Moore A, Crea PW, Makarious M, Bandres-Ciga S, Blauwendraat C, Diez-Fairen M: A genetic and transcriptomic assessment of the KTN1 gene in Parkinson's disease risk. Neurobiol Aging 2024, 134:66-73.
Badu-Mensah A, Guo X, Mendez R, Parsaud H, Hickman JJ: The Effect of Skeletal Muscle-Specific Creatine Treatment on ALS NMJ Integrity and Function. Int J Mol Sci 2023, 24(17). PMC10487911
Becerra-Calixto A, Mukherjee A, Ramirez S, Sepulveda S, Sinha T, Al-Lahham R, De Gregorio N, Gherardelli C, Soto C: Lewy Body-like Pathology and Loss of Dopaminergic Neurons in Midbrain Organoids Derived from Familial Parkinson's Disease Patient. Cells 2023, 12(4). PMC9954141
Carido M, Volkner M, Steinheuer LM, Wagner F, Kurth T, Dumler N, Ulusoy S, Wieneke S, Norniella AV, Golfieri C et al: Reliability of human retina organoid generation from hiPSC-derived neuroepithelial cysts. Front Cell Neurosci 2023, 17:1166641. PMC10587494
de Rus Jacquet A, Alpaugh M, Denis HL, Tancredi JL, Boutin M, Decaestecker J, Beauparlant C, Herrmann L, Saint-Pierre M, Parent M et al: The contribution of inflammatory astrocytes to BBB impairments in a brain-chip model of Parkinson's disease. Nat Commun 2023, 14(1):3651. PMC10282096
Dong X, Bai Y, Liao Z, Gritsch D, Liu X, Wang T, Borges-Monroy R, Ehrlich A, Serrano GE, Feany MB et al: Circular RNAs in the human brain are tailored to neuron identity and neuropsychiatric disease. Nat Commun 2023, 14(1):5327. PMC10507039
Fang L, Monteys AM, Durr A, Keiser M, Cheng C, Harapanahalli A, Gonzalez-Alegre P, Davidson BL, Wang K: Haplotyping SNPs for allele-specific gene editing of the expanded huntingtin allele using long-read sequencing. HGG Adv 2023, 4(1):100146. PMC9574884
Flinkman D, Hong Y, Gnjatovic J, Deshpande P, Ortutay Z, Peltonen S, Kaasinen V, James P, Coffey E: Regulators of proteostasis are translationally repressed in fibroblasts from patients with sporadic and LRRK2-G2019S Parkinson's disease. NPJ Parkinsons Dis 2023, 9(1):20. PMC9902458
Foddis M, Blumenau S, Holtgrewe M, Paquette K, Westra K, Alonso I, Macario MDC, Morgadinho AS, Velon AG, Santo G et al: TREX1 p.A129fs and p.Y305C variants in a large multi-ethnic cohort of CADASIL-like unrelated patients. Neurobiol Aging 2023, 123:208-215.
Fukushi M, Ohsawa R, Okinaka Y, Oikawa D, Kiyono T, Moriwaki M, Irie T, Oda K, Kamei Y, Tokunaga F et al: Optineurin deficiency impairs autophagy to cause interferon beta overproduction and increased survival of mice following viral infection. PLoS One 2023, 18(6):e0287545. PMC10289332
Guo X, Akanda N, Fiorino G, Nimbalkar S, Long CJ, Colon A, Patel A, Tighe PJ, Hickman JJ: Human IPSC-Derived PreBotC-Like Neurons and Development of an Opiate Overdose and Recovery Model. Adv Biol (Weinh) 2023:e2300276. PMC10921423
Gutierrez-Garcia R, Koyuncu S, Hommen F, Bilican S, Lee HJ, Fatima A, Vilchez D: G3BP1-dependent mechanism suppressing protein aggregation in Huntington's models and its demise upon stress granule assembly. Hum Mol Genet 2023.
Hendricks E, Quihuis AM, Hung ST, Chang J, Dorjsuren N, Der B, Staats KA, Shi Y, Sta Maria NS, Jacobs RE et al: The C9ORF72 repeat expansion alters neurodevelopment. Cell Rep 2023, 42(8):112983.
Horvath JD, Casas M, Kutchukian C, Sanchez SC, Pergande MR, Cologna SM, Simo S, Dixon RE, Dickson EJ: alpha-Synuclein-dependent increases in PIP5K1gamma drive inositol signaling to promote neurotoxicity. Cell Rep 2023, 42(10):113244.
Hung ST, Linares GR, Chang WH, Eoh Y, Krishnan G, Mendonca S, Hong S, Shi Y, Santana M, Kueth C et al: PIKFYVE inhibition mitigates disease in models of diverse forms of ALS. Cell 2023, 186(4):786-802 e728. PMC10062012
Jangir H, Hickman JJ: Mimicking the Tendon Microenvironment to Enhance Skeletal Muscle Adhesion and Longevity in a Functional Microcantilever Platform. ACS Biomater Sci Eng 2023, 9(8):4698-4708. PMC10430766
Jeyakumar JM, Kia A, Tam LCS, McIntosh J, Spiewak J, Mills K, Heywood W, Chisari E, Castaldo N, Verhoef D et al: Preclinical evaluation of FLT190, a liver-directed AAV gene therapy for Fabry disease. Gene Ther 2023, 30(6):487-502. PMC10284695
Kamienieva I, Charzynska A, Duszynski J, Malinska D, Szczepanowska J: In search for mitochondrial biomarkers of Parkinson's disease: Findings in parkin-mutant human fibroblasts. Biochim Biophys Acta Mol Basis Dis 2023, 1869(7):166787.
Labrador-Garrido A, Zhong S, Hughes L, Keshiya S, Kim WS, Halliday GM, Dzamko N: Live cell in situ lysosomal GCase activity correlates to alpha-synuclein levels in human differentiated neurons with LRRK2 and GBA1 mutations. Front Cell Neurosci 2023, 17:1229213. PMC10613732
Lee S, Jun YW, Linares GR, Butler B, Yuva-Adyemir Y, Moore J, Krishnan G, Ruiz-Juarez B, Santana M, Pons M et al: Downregulation of Hsp90 and the antimicrobial peptide Mtk suppresses poly(GR)-induced neurotoxicity in C9ORF72-ALS/FTD. Neuron 2023.
Leon KE, Khalid MM, Flynn RA, Fontaine KA, Nguyen TT, Kumar GR, Simoneau CR, Tomar S, Jimenez-Morales D, Dunlap M et al: Nuclear accumulation of host transcripts during Zika Virus Infection. PLoS Pathog 2023, 19(1):e1011070. PMC9847913
Li QS, Shabalin AA, DiBlasi E, Gopal S, Canuso CM, FinnGen ISGC, Palotie A, Drevets WC, Docherty AR, Coon H: Genome-wide association study meta-analysis of suicide death and suicidal behavior. Mol Psychiatry 2023, 28(2):891-900. PMC9908547
Liaudanskaya V, Fiore NJ, Zhang Y, Milton Y, Kelly MF, Coe M, Barreiro A, Rose VK, Shapiro MR, Mullis AS et al: Mitochondria dysregulation contributes to secondary neurodegeneration progression post-contusion injury in human 3D in vitro triculture brain tissue model. Cell Death Dis 2023, 14(8):496. PMC10400598
Linares GR, Li Y, Chang WH, Rubin-Sigler J, Mendonca S, Hong S, Eoh Y, Guo W, Huang YH, Chang J et al: SYF2 suppression mitigates neurodegeneration in models of diverse forms of ALS. Cell Stem Cell 2023, 30(2):171-187 e114. PMC10062011
Liu Y, Huang Z, Liu H, Ji Z, Arora A, Cai D, Wang H, Liu M, Simko EAJ, Zhang Y et al: DNA-initiated epigenetic cascades driven by C9orf72 hexanucleotide repeat. Neuron 2023.
McCaughey-Chapman A, Tarczyluk-Wells M, Combrinck C, Edwards N, Jones K, Connor B: Reprogramming of adult human dermal fibroblasts to induced dorsal forebrain precursor cells maintains aging signatures. Front Cell Neurosci 2023, 17:1003188. PMC9922835
Miller KE, Rivaldi AC, Shinagawa N, Sran S, Navarro JB, Westfall JJ, Miller AR, Roberts RD, Akkari Y, Supinger R et al: Post-zygotic rescue of meiotic errors causes brain mosaicism and focal epilepsy. Nat Genet 2023, 55(11):1920-1928. PMC10714261
Nim S, O'Hara DM, Corbi-Verge C, Perez-Riba A, Fujisawa K, Kapadia M, Chau H, Albanese F, Pawar G, De Snoo ML et al: Disrupting the alpha-synuclein-ESCRT interaction with a peptide inhibitor mitigates neurodegeneration in preclinical models of Parkinson's disease. Nat Commun 2023, 14(1):2150. PMC10115881
Nimbalkar S, Guo X, Colon A, Jackson M, Akanda N, Patel A, Grillo M, Hickman JJ: Development of a functional human induced pluripotent stem cell-derived nociceptor MEA system as a pain model for analgesic drug testing. Front Cell Dev Biol 2023, 11:1011145. PMC10014464
Oh M, Nam J, Baek A, Seo JH, Chae JI, Lee SY, Chung SK, Park BC, Park SG, Kim J et al: Neuroprotective Effects of Licochalcone D in Oxidative-Stress-Induced Primitive Neural Stem Cells from Parkinson's Disease Patient-Derived iPSCs. Biomedicines 2023, 11(1). PMC9856162
Ortega JA, Sasselli IR, Boccitto M, Fleming AC, Fortuna TR, Li Y, Sato K, Clemons TD, McKenna ED, Nguyen TP et al: CLIP-Seq analysis enables the design of protective ribosomal RNA bait oligonucleotides against C9ORF72 ALS/FTD poly-GR pathophysiology. Sci Adv 2023, 9(45):eadf7997. PMC10637751
Park DS, Kozaki T, Tiwari SK, Moreira M, Khalilnezhad A, Torta F, Olivie N, Thiam CH, Liani O, Silvin A et al: iPS-cell-derived microglia promote brain organoid maturation via cholesterol transfer. Nature 2023, 623(7986):397-405.
Pitcairn C, Murata N, Zalon AJ, Stojkovska I, Mazzulli JR: Impaired Autophagic-Lysosomal Fusion in Parkinson's Patient Midbrain Neurons Occurs through Loss of ykt6 and Is Rescued by Farnesyltransferase Inhibition. J Neurosci 2023, 43(14):2615-2629. PMC10082462
Popova G, Retallack H, Kim CN, Wang A, Shin D, DeRisi JL, Nowakowski T: Rubella virus tropism and single-cell responses in human primary tissue and microglia-containing organoids. Elife 2023, 12. PMC10370260
Qi R, Sammler E, Gonzalez-Hunt CP, Barraza I, Pena N, Rouanet JP, Naaldijk Y, Goodson S, Fuzzati M, Blandini F et al: A blood-based marker of mitochondrial DNA damage in Parkinson's disease. Sci Transl Med 2023, 15(711):eabo1557.
Rizig M, Bandres-Ciga S, Makarious MB, Ojo OO, Crea PW, Abiodun OV, Levine KS, Abubakar SA, Achoru CO, Vitale D et al: Identification of genetic risk loci and causal insights associated with Parkinson's disease in African and African admixed populations: a genome-wide association study. Lancet Neurol 2023.
Rosety I, Zagare A, Saraiva C, Nickels S, Antony P, Almeida C, Glaab E, Halder R, Velychko S, Rauen T et al: Impaired neuron differentiation in GBA-associated Parkinson's disease is linked to cell cycle defects in organoids. NPJ Parkinsons Dis 2023, 9(1):166. PMC10728202
Saeirad S, LeDoux MS: TOR2A Variants in Blepharospasm. Tremor Other Hyperkinet Mov (N Y) 2023, 13:44. PMC10705022
San Roman AK, Godfrey AK, Skaletsky H, Bellott DW, Groff AF, Harris HL, Blanton LV, Hughes JF, Brown L, Phou S et al: The human inactive X chromosome modulates expression of the active X chromosome. Cell Genom 2023, 3(2):100259. PMC9932992
San Roman AK, Skaletsky H, Godfrey AK, Bokil NV, Teitz L, Singh I, Blanton LV, Bellott DW, Pyntikova T, Lange J et al: The human Y and inactive X chromosomes similarly modulate autosomal gene expression. bioRxiv 2023. PMC10274745
Sharma SD, Reddy BK, Pal R, Ritakari TE, Cooper JD, Selvaraj BT, Kind PC, Chandran S, Wyllie DJA, Chattarji S: Astrocytes mediate cell non-autonomous correction of aberrant firing in human FXS neurons. Cell Rep 2023, 42(4):112344. PMC10157295
Sun D, Du Q, Wang R, Shi Z, Chen H, Zhou H: COVID-19 and the risk of neuromyelitis optica spectrum disorder: a Mendelian randomization study. Front Immunol 2023, 14:1207514. PMC10414539
Travaglio M, Michopoulos F, Yu Y, Popovic R, Foster E, Coen M, Martins LM: Increased cysteine metabolism in PINK1 models of Parkinson's disease. Dis Model Mech 2023, 16(1). PMC9903142
Tufi R, Clark EH, Hoshikawa T, Tsagkaraki C, Stanley J, Takeda K, Staddon JM, Briston T: High-content phenotypic screen to identify small molecule enhancers of Parkin-dependent ubiquitination and mitophagy. SLAS Discov 2023.
Voelkl K, Gutierrez-Angel S, Keeling S, Koyuncu S, da Silva Padilha M, Feigenbutz D, Arzberger T, Vilchez D, Klein R, Dudanova I: Neuroprotective effects of hepatoma-derived growth factor in models of Huntington's disease. Life Sci Alliance 2023, 6(11). PMC10427761
Wang G: Digenic Analysis Finds Highly Interactive Genetic Variants Underlying Polygenic Traits. Medical Research Archives, European Society of Medicine 2023.
Warden AS, Han C, Hansen E, Trescott S, Nguyen C, Kim R, Schafer D, Johnson A, Wright M, Ramirez G et al: Tools for studying human microglia: In vitro and in vivo strategies. Brain Behav Immun 2023, 107:369-382. PMC9810377
Whitham D, Belenkiy E, Darie CC, Radu A: Proteomics Analysis of Lymphoblastoid Cell Lines from Patients with Amyotrophic Lateral Sclerosis. Molecules 2023, 28(5). PMC10004326
Woo E, Bredvik K, Liu B, Fuchs TJ, Manfredi G, Konrad C: Machine learning approaches based on fibroblast morphometry do not predict ALS. Neurobiol Aging 2023, 130:80-83.
Zhang Q, Bhatia M, Park T, Ott J: A multi-threaded approach to genotype pattern mining for detecting digenic disease genes. Front Genet 2023, 14:1222517. PMC10483394
Ziff OJ, Harley J, Wang Y, Neeves J, Tyzack G, Ibrahim F, Skehel M, Chakrabarti AM, Kelly G, Patani R: Nucleocytoplasmic mRNA redistribution accompanies RNA binding protein mislocalization in ALS motor neurons and is restored by VCP ATPase inhibition. Neuron 2023, 111(19):3011-3027 e3017.
Alpaugh M, Masnata M, de Rus Jacquet A, Lepinay E, Denis HL, Saint-Pierre M, Davies P, Planel E, Cicchetti F: Passive immunization against phosphorylated tau improves features of Huntington's disease pathology. Mol Ther 2022.
Autar K, Guo X, Rumsey JW, Long CJ, Akanda N, Jackson M, Narasimhan NS, Caneus J, Morgan D, Hickman JJ: A functional hiPSC-cortical neuron differentiation and maturation model and its application to neurological disorders. Stem Cell Reports 2022, 17(1):96-109. PMC8758945
Badu-Mensah A, Guo X, Nimbalkar S, Cai Y, Hickman JJ: ALS mutations in both human skeletal muscle and motoneurons differentially affects neuromuscular junction integrity and function. Biomaterials 2022, 289:121752.
Badu-Mensah A, Valinski P, Parsaud H, Hickman JJ, Guo X: Hyperglycemia Negatively Affects IPSC-Derived Myoblast Proliferation and Skeletal Muscle Regeneration and Function. Cells 2022, 11(22). PMC9688533
Bush JA, Meyer SM, Fuerst R, Tong Y, Li Y, Benhamou RI, Aikawa H, Zanon PRA, Gibaut QMR, Angelbello AJ et al: A blood-brain penetrant RNA-targeted small molecule triggers elimination of r(G(4)C(2))(exp) in c9ALS/FTD via the nuclear RNA exosome. Proc Natl Acad Sci U S A 2022, 119(48):e2210532119. PMC9860304
Chedid J, Labrador-Garrido A, Zhong S, Gao J, Zhao Y, Perera G, Kim WS, Halliday GM, Dzamko N: A small molecule toll-like receptor antagonist rescues alpha-synuclein fibril pathology. J Biol Chem 2022, 298(8):102260. PMC9364105
Chirila FV, Xu G, Fontaine D, Kern G, Khan TK, Brandt J, Konishi Y, Nebe-von-Caron G, White CL, 3rd, Alkon DL: Morphometric imaging biomarker identifies Alzheimer's disease even among mixed dementia patients. Sci Rep 2022, 12(1):17675. PMC9626495
Cho IK, Easley CAt, Chan AWS: Suppression of trinucleotide repeat expansion in spermatogenic cells in Huntington's disease. J Assist Reprod Genet 2022, 39(10):2413-2430. PMC9596677
Coelho AVC, Mascaro-Cordeiro B, Lucon DR, Nobrega MS, Reis RS, de Alexandre RB, Moura LMS, de Oliveira GS, Guedes RLM, Caraciolo MP et al: The Brazilian Rare Genomes Project: Validation of Whole Genome Sequencing for Rare Diseases Diagnosis. Front Mol Biosci 2022, 9:821582. PMC9108541
Cunha-Oliveira T, Carvalho M, Sardao V, Ferreiro E, Mena D, Pereira FB, Borges F, Oliveira PJ, Silva FSG: Integrative Profiling of Amyotrophic Lateral Sclerosis Lymphoblasts Identifies Unique Metabolic and Mitochondrial Disease Fingerprints. Mol Neurobiol 2022, 59(10):6373-6396.
Cunha-Oliveira T, Silva DF, Segura L, Baldeiras I, Marques R, Rosenstock T, Oliveira PJ, Silva FSG: Redox profiles of amyotrophic lateral sclerosis lymphoblasts with or without known SOD1 mutations. Eur J Clin Invest 2022, 52(9):e13798.
Czuppa M, Dhingra A, Zhou Q, Schludi C, Konig L, Scharf E, Farny D, Dalmia A, Tager J, Castillo-Lizardo M et al: Drug screen in iPSC-Neurons identifies nucleoside analogs as inhibitors of (G4C2)n expression in C9orf72 ALS/FTD. Cell Rep 2022, 39(10):110913.
Dang X, Walton EK, Zablocka B, Baloh RH, Shy ME, Dorn GW, 2nd: Mitochondrial Phenotypes in Genetically Diverse Neurodegenerative Diseases and Their Response to Mitofusin Activation. Cells 2022, 11(6). PMC8947610
Eitan C, Siany A, Barkan E, Olender T, van Eijk KR, Moisse M, Farhan SMK, Danino YM, Yanowski E, Marmor-Kollet H et al: Whole-genome sequencing reveals that variants in the Interleukin 18 Receptor Accessory Protein 3'UTR protect against ALS. Nat Neurosci 2022, 25(4):433-445.
Ghosh S, Zulkifli M, Joshi A, Venkatesan M, Cristel A, Vishnu N, Madesh M, Gohil VM: MCU-complex-mediated mitochondrial calcium signaling is impaired in Barth syndrome. Hum Mol Genet 2022, 31(3):376-385. PMC8825335
Hallacli E, Kayatekin C, Nazeen S, Wang XH, Sheinkopf Z, Sathyakumar S, Sarkar S, Jiang X, Dong X, Di Maio R et al: The Parkinson's disease protein alpha-synuclein is a modulator of processing bodies and mRNA stability. Cell 2022, 185(12):2035-2056 e2033. PMC9394447
Han SS, Wen KK, Garcia-Rubio ML, Wold MS, Aguilera A, Niedzwiedz W, Vyas YM: WASp modulates RPA function on single-stranded DNA in response to replication stress and DNA damage. Nat Commun 2022, 13(1):3743.
Jarazo J, Barmpa K, Modamio J, Saraiva C, Sabate-Soler S, Rosety I, Griesbeck A, Skwirblies F, Zaffaroni G, Smits LM et al: Parkinson's Disease Phenotypes in Patient Neuronal Cultures and Brain Organoids Improved by 2-Hydroxypropyl-beta-Cyclodextrin Treatment. Mov Disord 2022, 37(1):80-94.
Kaye J, Reisine T, Finkbeiner S: Huntington's disease iPSC models-using human patient cells to understand the pathology caused by expanded CAG repeats. Fac Rev 2022, 11:16. PMC9264339
Kedariti M, Frattini E, Baden P, Cogo S, Civiero L, Ziviani E, Zilio G, Bertoli F, Aureli M, Kaganovich A et al: LRRK2 kinase activity regulates GCase level and enzymatic activity differently depending on cell type in Parkinson's disease. NPJ Parkinsons Dis 2022, 8(1):92. PMC9296523
Keller CG, Shin Y, Monteys AM, Renaud N, Beibel M, Teider N, Peters T, Faller T, St-Cyr S, Knehr J et al: An orally available, brain penetrant, small molecule lowers huntingtin levels by enhancing pseudoexon inclusion. Nat Commun 2022, 13(1):1150. PMC8894458
Killoy KM, Harlan BA, Pehar M, Vargas MR: NR1D1 downregulation in astrocytes induces a phenotype that is detrimental to cocultured motor neurons. FASEB J 2022, 36(4):e22262. PMC9223394
Krzystek TJ, White JA, Rathnayake R, Thurston L, Hoffmar-Glennon H, Li Y, Gunawardena S: HTT (huntingtin) and RAB7 co-migrate retrogradely on a signaling LAMP1-containing late endosome during axonal injury. Autophagy 2022:1-22.
Kuang C, Xiao Y, Hondmann D: Cleavage-free human genome editing. Mol Ther 2022, 30(1):268-282. PMC8753458
Kuo SH, Tasset I, Cheng MM, Diaz A, Pan MK, Lieberman OJ, Hutten SJ, Alcalay RN, Kim S, Ximenez-Embun P et al: Mutant glucocerebrosidase impairs alpha-synuclein degradation by blockade of chaperone-mediated autophagy. Sci Adv 2022, 8(6):eabm6393.
Li M, Zhong A, Wu Y, Sidharta M, Beaury M, Zhao X, Studer L, Zhou T: Transient inhibition of p53 enhances prime editing and cytosine base-editing efficiencies in human pluripotent stem cells. Nat Commun 2022, 13(1):6354. PMC9613702
McAllister B, Donaldson J, Binda CS, Powell S, Chughtai U, Edwards G, Stone J, Lobanov S, Elliston L, Schuhmacher LN et al: Exome sequencing of individuals with Huntington's disease implicates FAN1 nuclease activity in slowing CAG expansion and disease onset. Nat Neurosci 2022, 25(4):446-457. PMC8986535
Mishra A, Malik R, Hachiya T, Jurgenson T, Namba S, Posner DC, Kamanu FK, Koido M, Le Grand Q, Shi M et al: Stroke genetics informs drug discovery and risk prediction across ancestries. Nature 2022, 611(7934):115-123. PMC9524349
Morais R, Sogorb-Gonzalez M, Bar C, Timmer NC, Van der Bent ML, Wartel M, Valles A: Functional Intercellular Transmission of miHTT via Extracellular Vesicles: An In Vitro Proof-of-Mechanism Study. Cells 2022, 11(17). PMC9455173
Nath S, Caron NS, May L, Gluscencova OB, Kolesar J, Brady L, Kaufman BA, Boulianne GL, Rodriguez AR, Tarnopolsky MA et al: Functional characterization of variants of unknown significance in a spinocerebellar ataxia patient using an unsupervised machine learning pipeline. Hum Genome Var 2022, 9(1):10. PMC9010413
Novak G, Finkbeiner S, Skibinski G, Bernini M, Donato C, Skupin A: Generation of two human induced pluripotent stem cell lines from fibroblasts of Parkinson's disease patients carrying the ILE368ASN mutation in PINK1 (LCSBi002) and the R275W mutation in Parkin (LCSBI004). Stem Cell Res 2022, 61:102765.
Novak G, Kyriakis D, Grzyb K, Bernini M, Rodius S, Dittmar G, Finkbeiner S, Skupin A: Single-cell transcriptomics of human iPSC differentiation dynamics reveal a core molecular network of Parkinson's disease. Commun Biol 2022, 5(1):49. PMC8758783
Oh YM, Lee SW, Kim WK, Chen S, Church VA, Cates K, Li T, Zhang B, Dolle RE, Dahiya S et al: Age-related Huntington's disease progression modeled in directly reprogrammed patient-derived striatal neurons highlights impaired autophagy. Nat Neurosci 2022, 25(11):1420-1433.
Ojha R, Tantray I, Rimal S, Mitra S, Cheshier S, Lu B: Regulation of reverse electron transfer at mitochondrial complex I by unconventional Notch action in cancer stem cells. Dev Cell 2022, 57(2):260-276 e269. PMC8852348
Paul S, Dansithong W, Gandelman M, Figueroa KP, Zu T, Ranum LPW, Scoles DR, Pulst SM: Staufen impairs autophagy in neurodegeneration. Ann Neurol 2022.
Raja WK, Neves E, Burke C, Jiang X, Xu P, Rhodes KJ, Khurana V, Scannevin RH, Chung CY: Patient-derived three-dimensional cortical neurospheres to model Parkinson's disease. PLoS One 2022, 17(12):e0277532. PMC9714816
Rumsey JW, Lorance C, Jackson M, Sasserath T, McAleer CW, Long CJ, Goswami A, Russo MA, Raja SM, Gable KL: Classical Complement Pathway Inhibition in a “Human‐On‐A‐Chip” Model of Autoimmune Demyelinating Neuropathies. Advanced Therapeutics 2022:2200030.
Rusilowicz-Jones EV, Barone FG, Lopes FM, Stephen E, Mortiboys H, Urbe S, Clague MJ: Benchmarking a highly selective USP30 inhibitor for enhancement of mitophagy and pexophagy. Life Sci Alliance 2022, 5(2). PMC8645336
San Roman AK, Godfrey AK, Skaletsky H, Bellott DW, Groff AF, Harris HL, Blanton LV, Hughes JF, Brown L, Phou S et al: Quantitative analysis of gene expression on the inactive human X chromosome. bioRxiv 2022:2021.2008.2009.455676.
Shao C, Zhu J, Ma X, Siedlak SL, Cohen ML, Lerner A, Wang W: C19orf12 ablation causes ferroptosis in mitochondrial membrane protein-associated with neurodegeneration. Free Radic Biol Med 2022, 182:23-33. PMC8957567
Sheta R, Teixeira M, Idi W, Pierre M, de Rus Jacquet A, Emond V, Zorca CE, Vanderperre B, Durcan TM, Fon EA et al: Combining NGN2 programming and dopaminergic patterning for a rapid and efficient generation of hiPSC-derived midbrain neurons. Sci Rep 2022, 12(1):17176. PMC9562300
Smith LJ, Bolsinger MM, Chau K-Y, Gegg ME, Schapira AH: The GBA variant E326K is associated with alpha-synuclein aggregation and lipid droplet accumulation in human cell lines. bioRxiv 2022.
Stevanovski I, Chintalaphani SR, Gamaarachchi H, Ferguson JM, Pineda SS, Scriba CK, Tchan M, Fung V, Ng K, Cortese A et al: Comprehensive genetic diagnosis of tandem repeat expansion disorders with programmable targeted nanopore sequencing. Sci Adv 2022, 8(9):eabm5386. PMC8896783
Theunissen F, Anderton RS, Mastaglia FL, James I, Bedlack R, Akkari PA: Intronic NEFH variant is associated with reduced risk for sporadic ALS and later age of disease onset. Sci Rep 2022, 12(1):14739. PMC9427846
Uhrig M, Ezquer F, Ezquer M: Improving Cell Recovery: Freezing and Thawing Optimization of Induced Pluripotent Stem Cells. Cells 2022, 11(5). PMC8909336
van Bree EJ, Guimaraes R, Lundberg M, Blujdea ER, Rosenkrantz JL, White FTG, Poppinga J, Ferrer-Raventos P, Schneider AE, Clayton I et al: A hidden layer of structural variation in transposable elements reveals potential genetic modifiers in human disease-risk loci. Genome Res 2022.
Zhang ZW, Tu H, Jiang M, Vanan S, Chia SY, Jang SE, Saw WT, Ong ZW, Ma DR, Zhou ZD et al: The APP intracellular domain promotes LRRK2 expression to enable feed-forward neurodegenerative mechanisms in Parkinson's disease. Sci Signal 2022, 15(748):eabk3411.
Zhu W, Huang X, Yoon E, Bandres-Ciga S, Blauwendraat C, Billingsley KJ, Cade JH, Wu BP, Williams VH, Schindler AB et al: Heterozygous PRKN mutations are common but do not increase the risk of Parkinson's disease. Brain 2022, 145(6):2077-2091. PMC9423714
Abramzon Y, Dewan R, Cortese A, Resnick S, Ferrucci L, Houlden H, Traynor BJ: Investigating RFC1 expansions in sporadic amyotrophic lateral sclerosis. J Neurol Sci 2021, 430:118061. PMC9014296
Al-Ahmad AJ, Pervaiz I, Karamyan VT: Neurolysin substrates bradykinin, neurotensin and substance P enhance brain microvascular permeability in a human in vitro model. J Neuroendocrinol 2021, 33(2):e12931. PMC8166215
Anzmann AF, Sniezek, O., Pado, A., Busa, V.F., Vaz, F.M., Kreimer, S., Cole, N.R., Le, A., Kirsch, B., Claypool, S.M. and Vernon, H.: Barth syndrome cellular models have dysregulated respiratory chain complex I and mitochondrial quality control due to abnormal cardiolipin. bioRxiv 2021, 2021-01.
Assali A, Cho JY, Tsvetkov E, Gupta AR, Cowan CW: Sex-dependent role for EPHB2 in brain development and autism-associated behavior. Neuropsychopharmacology 2021.
Bakeberg MC, Hoes ME, Gorecki AM, Theunissen F, Pfaff AL, Kenna JE, Plunkett K, Koks S, Akkari PA, Mastaglia FL et al: The TOMM40 '523' polymorphism in disease risk and age of symptom onset in two independent cohorts of Parkinson's disease. Sci Rep 2021, 11(1):6363. PMC7973542
Barak T, Ristori E, Ercan-Sencicek AG, Miyagishima DF, Nelson-Williams C, Dong W, Jin SC, Prendergast A, Armero W, Henegariu O et al: PPIL4 is essential for brain angiogenesis and implicated in intracranial aneurysms in humans. Nat Med 2021, 27(12):2165-2175. PMC8768030
Bledsoe MJ, Rechtman L, Wagner L, Mehta P, Horton DK, Kaye WE: Analysis of Biospecimen Demand and Utilization of Samples from the National Amyotrophic Lateral Sclerosis Biorepository. Biopreserv Biobank 2021, 19(5):432-437. PMC9082877
Bowles KR, Silva MC, Whitney K, Bertucci T, Berlind JE, Lai JD, Garza JC, Boles NC, Mahali S, Strang KH et al: ELAVL4, splicing, and glutamatergic dysfunction precede neuron loss in MAPT mutation cerebral organoids. Cell 2021, 184(17):4547-4563 e4517. PMC8635409
Burbulla LF, Zheng J, Song P, Jiang W, Johnson ME, Brundin P, Krainc D: Direct targeting of wild-type glucocerebrosidase by antipsychotic quetiapine improves pathogenic phenotypes in Parkinson's disease models. JCI Insight 2021, 6(19). PMC8525588
Byeon SK, Ramarajan MG, Madugundu AK, Oglesbee D, Vernon HJ, Pandey A: High-resolution mass spectrometric analysis of cardiolipin profiles in Barth syndrome. Mitochondrion 2021, 60:27-32.
C Eitan EB, T Olender, KR van Eijk, M Moisse: Non-Coding Genetic Analysis Implicates Interleukin 18 Receptor Accessory Protein 3'UTR in Amyotrophic Lateral Sclerosis. BioRxiv 2021.
Cai J, Kropf E, Hou YM, Iacovitti L: A stress-free strategy to correct point mutations in patient iPS cells. Stem Cell Res 2021, 53:102332. PMC8283763
Chia R: Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture. Nat Genet 2021.
Ciesiolka A, Stroynowska-Czerwinska A, Joachimiak P, Ciolak A, Kozlowska E, Michalak M, Dabrowska M, Olejniczak M, Raczynska KD, Zielinska D et al: Artificial miRNAs targeting CAG repeat expansion in ORFs cause rapid deadenylation and translation inhibition of mutant transcripts. Cell Mol Life Sci 2021, 78(4):1577-1596. PMC7904544
Deus CM, Pereira SP, Cunha-Oliveira T, Teixeira J, Simoes RF, Cagide F, Benfeito S, Borges F, Raimundo N, Oliveira PJ: A mitochondria-targeted caffeic acid derivative reverts cellular and mitochondrial defects in human skin fibroblasts from male sporadic Parkinson's disease patients. Redox Biol 2021, 45:102037. PMC8220403
Drabik K, Malinska D, Piecyk K, Debska-Vielhaber G, Vielhaber S, Duszynski J, Szczepanowska J: Effect of Chronic Stress Present in Fibroblasts Derived from Patients with a Sporadic Form of AD on Mitochondrial Function and Mitochondrial Turnover. Antioxidants (Basel) 2021, 10(6). PMC8229029
Epi25 Collaborative. Electronic address jcce, Epi C: Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals. Am J Hum Genet 2021, 108(6):965-982. PMC8206159
Epilepsy Phenome/Genome Project EKC: Diverse genetic causes of polymicrogyria with epilepsy. Epilepsia 2021, 62(4):973-983.
Esteras N, Kopach O, Maiolino M, Lariccia V, Amoroso S, Qamar S, Wray S, Rusakov DA, Jaganjac M, Abramov AY: Mitochondrial ROS control neuronal excitability and cell fate in frontotemporal dementia. Alzheimers Dement 2021.
Frison M, Faccenda D, Abeti R, Rigon M, Strobbe D, England-Rendon BS, Cash D, Barnes K, Sadeghian M, Sajic M et al: The translocator protein (TSPO) is prodromal to mitophagy loss in neurotoxicity. Mol Psychiatry 2021, 26(7):2721-2739. PMC8505241
Fukusumi H, Togo K, Sumida M, Nakamori M, Obika S, Baba K, Shofuda T, Ito D, Okano H, Mochizuki H et al: Alpha-synuclein dynamics in induced pluripotent stem cell-derived dopaminergic neurons from a Parkinson's disease patient (PARK4) with SNCA triplication. FEBS Open Bio 2021, 11(2):354-366. PMC7876504
Gandelman M, Dansithong W, Kales SC, Paul S, Maag G, Aoyama E, Zakharov A, Rai G, Dexheimer T, Whitehill BM et al: The AKT modulator A-443654 reduces alpha-synuclein expression and normalizes ER stress and autophagy. J Biol Chem 2021:101191.
Gaweda-Walerych K, Walerych D, Berdynski M, Buratti E, Zekanowski C: Parkin Levels Decrease in Fibroblasts With Progranulin (PGRN) Pathogenic Variants and in a Cellular Model of PGRN Deficiency. Front Mol Neurosci 2021, 14:676478. PMC8155584
Gilmozzi V, Gentile G, Riekschnitz DA, Von Troyer M, Lavdas AA, Kerschbamer E, Weichenberger CX, Rosato-Siri MD, Casarosa S, Conti L et al: Generation of hiPSC-Derived Functional Dopaminergic Neurons in Alginate-Based 3D Culture. Front Cell Dev Biol 2021, 9:708389. PMC8365765
Goveas L, Mutez E, Chartier-Harlin MC, Taymans JM: Mind the Gap: LRRK2 Phenotypes in the Clinic vs. in Patient Cells. Cells 2021, 10(5). PMC8145309
Han SS, Wen KK, Vyas YM: Deficiency of Wiskott-Aldrich syndrome protein has opposing effect on the pro-oncogenic pathway activation in nonmalignant versus malignant lymphocytes. Oncogene 2021, 40(2):345-354. PMC7855887
Harley J, Hagemann C, Serio A, Patani R: TDP-43 and FUS mislocalization in VCP mutant motor neurons is reversed by pharmacological inhibition of the VCP D2 ATPase domain. Brain Commun 2021, 3(3):fcab166. PMC8361416
Horner SJ, Couturier N, Bruch R, Koch P, Hafner M, Rudolf R: hiPSC-Derived Schwann Cells Influence Myogenic Differentiation in Neuromuscular Cocultures. Cells 2021, 10(12). PMC8699767
Jo J, Yang L, Tran HD, Yu W, Sun AX, Chang YY, Jung BC, Lee SJ, Saw TY, Xiao B et al: Lewy Body-like Inclusions in Human Midbrain Organoids Carrying Glucocerebrosidase and alpha-Synuclein Mutations. Ann Neurol 2021, 90(3):490-505. PMC9543721
Johnson JO, Chia R, Miller DE, Li R, Kumaran R, Abramzon Y, Alahmady N, Renton AE, Topp SD, Gibbs JR et al: Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis. JAMA Neurol 2021, 78(10):1236-1248. PMC8406220
Kilic-Berkmen G, Wright LJ, Perlmutter JS, Comella C, Hallett M, Teller J, Pirio Richardson S, Peterson DA, Cruchaga C, Lungu C et al: The Dystonia Coalition: A Multicenter Network for Clinical and Translational Studies. Front Neurol 2021, 12:660909. PMC8060489
Killoy KM, Pehar M, Harlan BA, Vargas MR: Altered expression of clock and clock-controlled genes in a hSOD1-linked amyotrophic lateral sclerosis mouse model. FASEB J 2021, 35(2):e21343. PMC7963346
Kim H, Sim H, Lee JE, Seo MK, Lim J, Bang Y, Nam D, Lee SY, Chung SK, Choi HJ et al: Ciliogenesis is Not Directly Regulated by LRRK2 Kinase Activity in Neurons. Exp Neurobiol 2021, 30(3):232-243. PMC8278138
Knock E, Julian LM: Building on a Solid Foundation: Adding Relevance and Reproducibility to Neurological Modeling Using Human Pluripotent Stem Cells. Front Cell Neurosci 2021, 15:767457. PMC8637745
Laffita-Mesa JM, Nennesmo I, Paucar M, Svenningsson P: A Novel Duplication in ATXN2 as Modifier for Spinocerebellar Ataxia 3 (SCA3) and C9ORF72-ALS. Mov Disord 2021, 36(2):508-514. PMC7983901
Madrid L, Moreno-Grau S, Ahmad S, Gonzalez-Perez A, de Rojas I, Xia R, Martino Adami PV, Garcia-Gonzalez P, Kleineidam L, Yang Q et al: Multiomics integrative analysis identifies APOE allele-specific blood biomarkers associated to Alzheimer's disease etiopathogenesis. Aging (Albany NY) 2021, 13(7):9277-9329. PMC8064208
Maor-Nof M, Shipony Z, Lopez-Gonzalez R, Nakayama L, Zhang YJ, Couthouis J, Blum JA, Castruita PA, Linares GR, Ruan K et al: p53 is a central regulator driving neurodegeneration caused by C9orf72 poly(PR). Cell 2021, 184(3):689-708 e620. PMC7886018
Mazurek S, Oleksiewicz U, Czerwinska P, Wroblewska J, Klimczak M, Wiznerowicz M: Disruption of RING and PHD Domains of TRIM28 Evokes Differentiation in Human iPSCs. Cells 2021, 10(8). PMC8394524
Mohamed NV, Sirois J, Ramamurthy J, Mathur M, Lepine P, Deneault E, Maussion G, Nicouleau M, Chen CX, Abdian N et al: Midbrain organoids with an SNCA gene triplication model key features of synucleinopathy. Brain Commun 2021, 3(4):fcab223. PMC8495137
Namboori SC, Thomas P, Ames R, Hawkins S, Garrett LO, Willis CRG, Rosa A, Stanton LW, Bhinge A: Single-cell transcriptomics identifies master regulators of neurodegeneration in SOD1 ALS iPSC-derived motor neurons. Stem Cell Reports 2021, 16(12):3020-3035. PMC8693652
Nicholatos JW, Groot J, Dhokai S, Tran D, Hrdlicka L, Carlile TM, Bennion M, Dalkilic-Liddle I, Hirst WD, Weihofen A: SCD Inhibition Protects from alpha-Synuclein-Induced Neurotoxicity But Is Toxic to Early Neuron Cultures. eNeuro 2021, 8(4). PMC8387157
Paul S, Dansithong W, Figueroa KP, Gandelman M, Scoles DR, Pulst SM: Staufen1 in Human Neurodegeneration. Ann Neurol 2021, 89(6):1114-1128. PMC9724591
Ren J, Li C, Zhang M, Wang H, Xie Y, Tang Y: A Step-by-Step Refined Strategy for Highly Efficient Generation of Neural Progenitors and Motor Neurons from Human Pluripotent Stem Cells. Cells 2021, 10(11). PMC8625124
Saez-Atienzar S, Bandres-Ciga S, Langston RG, Kim JJ, Choi SW, Reynolds RH, International ALSGC, Italsgen, Abramzon Y, Dewan R et al: Genetic analysis of amyotrophic lateral sclerosis identifies contributing pathways and cell types. Sci Adv 2021, 7(3). PMC7810371
Santoso JW, Li X, Gupta D, Suh GC, Hendricks E, Lin S, Perry S, Ichida JK, Dickman D, McCain ML: Engineering skeletal muscle tissues with advanced maturity improves synapse formation with human induced pluripotent stem cell-derived motor neurons. APL Bioeng 2021, 5(3):036101. PMC8282350
Simone R, Javad F, Emmett W, Wilkins OG, Almeida FL, Barahona-Torres N, Zareba-Paslawska J, Ehteramyan M, Zuccotti P, Modelska A et al: MIR-NATs repress MAPT translation and aid proteostasis in neurodegeneration. Nature 2021, 594(7861):117-123. PMC7610982
Singh T, Jiao Y, Ferrando LM, Yablonska S, Li F, Horoszko EC, Lacomis D, Friedlander RM, Carlisle DL: Neuronal mitochondrial dysfunction in sporadic amyotrophic lateral sclerosis is developmentally regulated. Sci Rep 2021, 11(1):18916. PMC8460779
Smith G, Mathews D, Sander-Effron S, Requesens D, Turan N, Scheinfeldt L: Microsatellite Markers in Biobanking: A New Multiplexed Assay. Biopreserv Biobank 2021.
Smith VM, Nguyen H, Rumsey JW, Long CJ, Shuler ML, Hickman JJ: A Functional Human-on-a-Chip Autoimmune Disease Model of Myasthenia Gravis for Development of Therapeutics. Front Cell Dev Biol 2021, 9:745897. PMC8645836
Soldati C, Lopez-Fabuel I, Wanderlingh LG, Garcia-Macia M, Monfregola J, Esposito A, Napolitano G, Guevara-Ferrer M, Scotto Rosato A, Krogsaeter EK et al: Repurposing of tamoxifen ameliorates CLN3 and CLN7 disease phenotype. EMBO Mol Med 2021:e13742.
Sonobe Y, Aburas J, Krishnan G, Fleming AC, Ghadge G, Islam P, Warren EC, Gu Y, Kankel MW, Brown AEX et al: A C. elegans model of C9orf72-associated ALS/FTD uncovers a conserved role for eIF2D in RAN translation. Nat Commun 2021, 12(1):6025. PMC8519953
Stabley DL, Holbrook J, Scavina M, Crawford TO, Swoboda KJ, Robbins KM, Butchbach MER: Detection of SMN1 to SMN2 gene conversion events and partial SMN1 gene deletions using array digital PCR. Neurogenetics 2021, 22(1):53-64.
Stelcer E, Kulcenty K, Rucinski M, Kruszyna-Mochalska M, Skrobala A, Sobecka A, Jopek K, Suchorska WM: Ionizing radiation exposure of stem cell-derived chondrocytes affects their gene and microRNA expression profiles and cytokine production. Sci Rep 2021, 11(1):7481. PMC8021574
Stojkovska I, Wani WY, Zunke F, Belur NR, Pavlenko EA, Mwenda N, Sharma K, Francelle L, Mazzulli JR: Rescue of alpha-synuclein aggregation in Parkinson's patient neurons by synergistic enhancement of ER proteostasis and protein trafficking. Neuron 2021.
Sun YV, Li C, Hui Q, Huang Y, Barbano R, Rodriguez R, Malaty IA, Reich S, Bambarger K, Holmes K et al: A Multi-center Genome-wide Association Study of Cervical Dystonia. Mov Disord 2021, 36(12):2795-2801. PMC8688173
Tanudjojo B, Shaikh SS, Fenyi A, Bousset L, Agarwal D, Marsh J, Zois C, Heman-Ackah S, Fischer R, Sims D et al: Phenotypic manifestation of alpha-synuclein strains derived from Parkinson's disease and multiple system atrophy in human dopaminergic neurons. Nat Commun 2021, 12(1):3817.
Theunissen F, Anderton RS, Mastaglia FL, Flynn LL, Winter SJ, James I, Bedlack R, Hodgetts S, Fletcher S, Wilton SD et al: Novel STMN2 Variant Linked to Amyotrophic Lateral Sclerosis Risk and Clinical Phenotype. Front Aging Neurosci 2021, 13:658226. PMC8033025
Thomas R, Moloney EB, Macbain ZK, Hallett PJ, Isacson O: Fibroblasts from idiopathic Parkinson's disease exhibit deficiency of lysosomal glucocerebrosidase activity associated with reduced levels of the trafficking receptor LIMP2. Mol Brain 2021, 14(1):16. PMC7816505
Tsefou E, Walker AS, Clark EH, Hicks AR, Luft C, Takeda K, Watanabe T, Ramazio B, Staddon JM, Briston T et al: Investigation of USP30 inhibition to enhance Parkin-mediated mitophagy: tools and approaches. Biochem J 2021, 478(23):4099-4118. PMC8718267
Umek T, Olsson T, Gissberg O, Saher O, Zaghloul EM, Lundin KE, Wengel J, Hanse E, Zetterberg H, Vizlin-Hodzic D et al: Oligonucleotides Targeting DNA Repeats Downregulate Huntingtin Gene Expression in Huntington's Patient-Derived Neural Model System. Nucleic Acid Ther 2021.
Virlogeux A, Scaramuzzino C, Lenoir S, Carpentier R, Louessard M, Genoux A, Lino P, Hinckelmann MV, Perrier AL, Humbert S et al: Increasing brain palmitoylation rescues behavior and neuropathology in Huntington disease mice. Sci Adv 2021, 7(14). PMC8011966
Wallace AD, Sasani TA, Swanier J, Gates BL, Greenland J, Pedersen BS, Varley KE, Quinlan AR: CaBagE: A Cas9-based Background Elimination strategy for targeted, long-read DNA sequencing. PLoS One 2021, 16(4):e0241253. PMC8031414
Walter J, Bolognin S, Poovathingal SK, Magni S, Gerard D, Antony PMA, Nickels SL, Salamanca L, Berger E, Smits LM et al: The Parkinson's-disease-associated mutation LRRK2-G2019S alters dopaminergic differentiation dynamics via NR2F1. Cell Rep 2021, 37(3):109864.
Wang S, Latallo MJ, Zhang Z, Huang B, Bobrovnikov DG, Dong D, Livingston NM, Tjoeng W, Hayes LR, Rothstein JD et al: Nuclear export and translation of circular repeat-containing intronic RNA in C9ORF72-ALS/FTD. Nat Commun 2021, 12(1):4908. PMC8363653
Williams E, Bagarova J, Kerr G, Xia DD, Place ES, Dey D, Shen Y, Bocobo GA, Mohedas AH, Huang X et al: Saracatinib is an efficacious clinical candidate for fibrodysplasia ossificans progressiva. JCI Insight 2021, 6(8). PMC8119212
XR Ma MP, Y Koike, SC Vatsavayai, G Kim: TDP-43 represses cryptic exon inclusion in FTD/ALS gene UNC13A. BioRxiv 2021.
Yau WY, Sullivan R, Rocca C, Cali E, Vandrovcova J, Wood NW, Houlden H: NOTCH2NLC Intermediate-Length Repeat Expansion and Parkinson's Disease in Patients of European Descent. Ann Neurol 2021, 89(3):633-635.
Yau WY, Vandrovcova J, Sullivan R, Chen Z, Zecchinelli A, Cilia R, Duga S, Murray M, Carmona S, Genomics England Research C et al: Low Prevalence of NOTCH2NLC GGC Repeat Expansion in White Patients with Movement Disorders. Mov Disord 2021, 36(1):251-255. PMC8436747
Anderson KM, Augusto DG, Dandekar R, Shams H, Zhao C, Yusufali T, Montero-Martin G, Marin WM, Nemat-Gorgani N, Creary LE et al: Killer Cell Immunoglobulin-like Receptor Variants Are Associated with Protection from Symptoms Associated with More Severe Course in Parkinson Disease. J Immunol 2020, 205(5):1323-1330. PMC7484130
Arber C, Toombs J, Lovejoy C, Ryan NS, Paterson RW, Willumsen N, Gkanatsiou E, Portelius E, Blennow K, Heslegrave A et al: Familial Alzheimer's disease patient-derived neurons reveal distinct mutation-specific effects on amyloid beta. Mol Psychiatry 2020, 25(11):2919-2931. PMC7577860
Arnold M, Nho K, Kueider-Paisley A, Massaro T, Huynh K, Brauner B, MahmoudianDehkordi S, Louie G, Moseley MA, Thompson JW et al: Sex and APOE epsilon4 genotype modify the Alzheimer's disease serum metabolome. Nat Commun 2020, 11(1):1148. PMC7052223
Badu-Mensah A, Guo X, McAleer CW, Rumsey JW, Hickman JJ: Functional skeletal muscle model derived from SOD1-mutant ALS patient iPSCs recapitulates hallmarks of disease progression. Sci Rep 2020, 10(1):14302. PMC7459299
Chamberlain JM, Kapur J, Shinnar S, Elm J, Holsti M, Babcock L, Rogers A, Barsan W, Cloyd J, Lowenstein D et al: Efficacy of levetiracetam, fosphenytoin, and valproate for established status epilepticus by age group (ESETT): a double-blind, responsive-adaptive, randomised controlled trial. Lancet 2020.
Chen V, Moncalvo M, Tringali D, Tagliafierro L, Shriskanda A, Ilich E, Dong W, Kantor B, Chiba-Falek O: The mechanistic role of alpha-synuclein in the nucleus: impaired nuclear function caused by familial Parkinson's disease SNCA mutations. Hum Mol Genet 2020, 29(18):3107-3121. PMC7645704
Colon A, Badu-Mensah A, Guo X, Goswami A, Hickman JJ: Differentiation of Intrafusal Fibers from Human Induced Pluripotent Stem Cells. ACS Chem Neurosci 2020, 11(7):1085-1092.
Course MM, Gudsnuk K, Smukowski SN, Winston K, Desai N, Ross JP, Sulovari A, Bourassa CV, Spiegelman D, Couthouis J et al: Evolution of a Human-Specific Tandem Repeat Associated with ALS. Am J Hum Genet 2020, 107(3):445-460. PMC7477013
Dabrowska M, Ciolak A, Kozlowska E, Fiszer A, Olejniczak M: Generation of New Isogenic Models of Huntington's Disease Using CRISPR-Cas9 Technology. Int J Mol Sci 2020, 21(5). PMC7084361
Das Sharma S, Pal R, Reddy BK, Selvaraj BT, Raj N, Samaga KK, Srinivasan DJ, Ornelas L, Sareen D, Livesey MR et al: Cortical neurons derived from human pluripotent stem cells lacking FMRP display altered spontaneous firing patterns. Mol Autism 2020, 11(1):52. PMC7304215
Depla JA, Sogorb-Gonzalez M, Mulder LA, Heine VM, Konstantinova P, van Deventer SJ, Wolthers KC, Pajkrt D, Sridhar A, Evers MM: Cerebral Organoids: A Human Model for AAV Capsid Selection and Therapeutic Transgene Efficacy in the Brain. Mol Ther Methods Clin Dev 2020, 18:167-175. PMC7327852
Deshpande P, Flinkman, D., Hong, Y., Goltseva, E., Siino, V., Sun, L., Peltonen, S., Elo, L., Kaasinen, V., James, P. and Coffey, E.T.: Protein synthesis is suppressed in sporadic and familial Parkinson’s Disease by LRRK2. BioRxiv 2020.
Dhingra A, Tager J, Bressan E, Rodriguez-Nieto S, Bedi MS, Broer S, Sadikoglou E, Fernandes N, Castillo-Lizardo M, Rizzu P et al: Automated Production of Human Induced Pluripotent Stem Cell-Derived Cortical and Dopaminergic Neurons with Integrated Live-Cell Monitoring. J Vis Exp 2020(162).
Fischer DL, Auinger P, Goudreau JL, Cole-Strauss A, Kieburtz K, Elm JJ, Hacker ML, Charles PD, Lipton JW, Pickut BA et al: BDNF rs6265 Variant Alters Outcomes with Levodopa in Early-Stage Parkinson's Disease. Neurotherapeutics 2020.
Franco A, Dang X, Walton EK, Ho JN, Zablocka B, Ly C, Miller TM, Baloh RH, Shy ME, Yoo AS et al: Burst mitofusin activation reverses neuromuscular dysfunction in murine CMT2A. Elife 2020, 9. PMC7655101
Gandelman M, Dansithong W, Figueroa KP, Paul S, Scoles DR, Pulst SM: Staufen 1 amplifies proapoptotic activation of the unfolded protein response. Cell Death Differ 2020.
Garcia-Leon JA, Garcia-Diaz B, Eggermont K, Caceres-Palomo L, Neyrinck K, Madeiro da Costa R, Davila JC, Baron-Van Evercooren A, Gutierrez A, Verfaillie CM: Generation of oligodendrocytes and establishment of an all-human myelinating platform from human pluripotent stem cells. Nat Protoc 2020, 15(11):3716-3744.
Ghosh S, Basu Ball W, Madaris TR, Srikantan S, Madesh M, Mootha VK, Gohil VM: An essential role for cardiolipin in the stability and function of the mitochondrial calcium uniporter. Proc Natl Acad Sci U S A 2020, 117(28):16383-16390. PMC7368250
Gonzalez-Hunt CP, Thacker EA, Toste CM, Boularand S, Deprets S, Dubois L, Sanders LH: Mitochondrial DNA damage as a potential biomarker of LRRK2 kinase activity in LRRK2 Parkinson's disease. Sci Rep 2020, 10(1):17293. PMC7557909
Gorecki AM, Bakeberg MC, Theunissen F, Kenna JE, Hoes ME, Pfaff AL, Akkari PA, Dunlop SA, Koks S, Mastaglia FL et al: Single Nucleotide Polymorphisms Associated With Gut Homeostasis Influence Risk and Age-at-Onset of Parkinson's Disease. Front Aging Neurosci 2020, 12:603849. PMC7718032
Gregory JM, Fagegaltier D, Phatnani H, Harms MB: Genetics of Amyotrophic Lateral Sclerosis. Current Genetic Medicine Reports 2020:1-11.
Guo X, Badu-Mensah A, Thomas MC, McAleer CW, Hickman JJ: Characterization of Functional Human Skeletal Myotubes and Neuromuscular Junction Derived-From the Same Induced Pluripotent Stem Cell Source. Bioengineering (Basel) 2020, 7(4). PMC7712960
Guo X, Smith V, Jackson M, Tran M, Thomas M, Patel A, Lorusso E, Nimbalkar S, Cai Y, McAleer CW et al: A Human-Based Functional NMJ System for Personalized ALS Modeling and Drug Testing. Adv Ther (Weinh) 2020, 3(11). PMC7942691
Hor P, Ichida JK, Borok Z, Ryan AL: Protocol for Differentiation of Human iPSCs into Pulmonary Neuroendocrine Cells. STAR Protoc 2020, 1(2):100068. PMC7580194
Hor P, Punj, V., Borok, Z., Ryan, A. and Ichida, J.: Single Cell Transcriptomics-guided Antisense Treatment Improves Endoderm Differentiation of iPSCs. BioRxiv 2020.
Huang H, Bader TN, Jin S: Signaling Molecules Regulating Pancreatic Endocrine Development from Pluripotent Stem Cell Differentiation. Int J Mol Sci 2020, 21(16). PMC7461594
JD Lai JB, G Fricklas, NS Maria, R Jacobs…: A model of traumatic brain injury using human iPSC-derived cortical brain organoids. BioRxiv 2020.
Keene KL, Hyacinth HI, Bis JC, Kittner SJ, Mitchell BD, Cheng YC, Pare G, Chong M, O'Donnell M, Meschia JF et al: Genome-Wide Association Study Meta-Analysis of Stroke in 22 000 Individuals of African Descent Identifies Novel Associations With Stroke. Stroke 2020, 51(8):2454-2463. PMC7387190
Korecka JA, Thomas R, Hinrich AJ, Moskites AM, Macbain ZK, Hallett PJ, Isacson O, Hastings ML: Splice-Switching Antisense Oligonucleotides Reduce LRRK2 Kinase Activity in Human LRRK2 Transgenic Mice. Mol Ther Nucleic Acids 2020, 21:623-635. PMC7393423
Krohn L, Grenn FP, Makarious MB, Kim JJ, Bandres-Ciga S, Roosen DA, Gan-Or Z, Nalls MA, Singleton AB, Blauwendraat C et al: Comprehensive assessment of PINK1 variants in Parkinson's disease. Neurobiol Aging 2020.
Lee JE, Sim H, Yoo HM, Lee M, Baek A, Jeon YJ, Seo KS, Son MY, Yoon JS, Kim J: Neuroprotective Effects of Cryptotanshinone in a Direct Reprogramming Model of Parkinson's Disease. Molecules 2020, 25(16). PMC7463464
Leon K, Flynn R, Khalid MM, Fontaine KA, Nguyen T, Kumar GR, Simoneau CR, Tomar S, Jimenez-Morales D, Dunlap M: Zika Virus Infection Prevents Host mRNA Nuclear Export by Disrupting UPF1 Function. bioRxiv 2020.
Li S, Wu Z, Li Y, Tantray I, De Stefani D, Mattarei A, Krishnan G, Gao FB, Vogel H, Lu B: Altered MICOS Morphology and Mitochondrial Ion Homeostasis Contribute to Poly(GR) Toxicity Associated with C9-ALS/FTD. Cell Rep 2020, 32(5):107989. PMC7433775
Lungu C, Ozelius L, Standaert D, Hallett M, Sieber BA, Swanson-Fisher C, Berman BD, Calakos N, Moore JC, Perlmutter JS et al: Defining research priorities in dystonia. Neurology 2020, 94(12):526-537.
Martin S, Smolders S, Van den Haute C, Heeman B, van Veen S, Crosiers D, Beletchi I, Verstraeten A, Gossye H, Gelders G et al: Mutated ATP10B increases Parkinson's disease risk by compromising lysosomal glucosylceramide export. Acta Neuropathol 2020.
Monzel AS, Hemmer K, Kaoma T, Smits LM, Bolognin S, Lucarelli P, Rosety I, Zagare A, Antony P, Nickels SL et al: Machine learning-assisted neurotoxicity prediction in human midbrain organoids. Parkinsonism Relat Disord 2020, 75:105-109.
Nehme R, Barrett LE: Using human pluripotent stem cell models to study autism in the era of big data. Mol Autism 2020, 11(1):21. PMC7087382
Ortega JA, Daley EL, Kour S, Samani M, Tellez L, Smith HS, Hall EA, Esengul YT, Tsai YH, Gendron TF et al: Nucleocytoplasmic Proteomic Analysis Uncovers eRF1 and Nonsense-Mediated Decay as Modifiers of ALS/FTD C9orf72 Toxicity. Neuron 2020.
Patel A, Rumsey JW, Lorance C, Long CJ, Lee B, Tetard L, Lambert S, Hickman JJ: Myelination and Node of Ranvier Formation in a Human Motoneuron-Schwann Cell Serum-Free Coculture. ACS Chem Neurosci 2020, 11(17):2615-2623.
Qureshi AH, Liang D, Canas J, Hooks J, Arrregui SW, Saxena V, Rooney R, Nolan V, Schwaderer AL, Hains DS: DCHS1 DNA copy number loss associated with pediatric urinary tract infection risk. Innate Immun 2020:1753425920917193.
Rozpedek-Kaminska W, Siwecka N, Wawrzynkiewicz A, Wojtczak R, Pytel D, Diehl JA, Majsterek I: The PERK-Dependent Molecular Mechanisms as a Novel Therapeutic Target for Neurodegenerative Diseases. Int J Mol Sci 2020, 21(6).
Sanchez-Martin P, Lahuerta M, Viana R, Knecht E, Sanz P: Regulation of the autophagic PI3KC3 complex by laforin/malin E3-ubiquitin ligase, two proteins involved in Lafora disease. Biochim Biophys Acta Mol Cell Res 2020, 1867(2):118613. PMC6937399
Sarkar S, Nguyen HM, Malovic E, Luo J, Langley M, Palanisamy BN, Singh N, Manne S, Neal M, Gabrielle M et al: Kv1.3 modulates neuroinflammation and neurodegeneration in Parkinson's disease. J Clin Invest 2020, 130(8):4195-4212. PMC7410064
Schwartzentruber A, Boschian C, Lopes FM, Myszczynska MA, New EJ, Beyrath J, Smeitink J, Ferraiuolo L, Mortiboys H: Oxidative switch drives mitophagy defects in dopaminergic parkin mutant patient neurons. BioRxiv 2020.
Semmler S, Gagne M, Garg P, Pickles SR, Baudouin C, Hamon-Keromen E, Destroismaisons L, Khalfallah Y, Chaineau M, Caron E et al: TNF receptor-associated factor 6 interacts with ALS-linked misfolded superoxide dismutase 1 and promotes aggregation. J Biol Chem 2020, 295(12):3808-3825. PMC7086032
Sim H, Lee JE, Yoo HM, Cho S, Lee H, Baek A, Kim J, Seo H, Kweon MN, Kim HG et al: Iroquois Homeobox Protein 2 Identified as a Potential Biomarker for Parkinson's Disease. Int J Mol Sci 2020, 21(10). PMC7278941
Sim H, Seo JH, Kim J, Oh M, Lee JE, Baek A, Lee SY, Chung SK, Son MY, Chae JI et al: Quantitative Proteomic Analysis of Primitive Neural Stem Cells from LRRK2 G2019S-Associated Parkinson's Disease Patient-Derived iPSCs. Life (Basel) 2020, 10(12). PMC7762312
Svrzikapa N, Longo KA, Prasad N, Boyanapalli R, Brown JM, Dorset D, Yourstone S, Powers J, Levy SE, Morris AJ et al: Investigational Assay for Haplotype Phasing of the Huntingtin Gene. Mol Ther Methods Clin Dev 2020, 19:162-173. PMC7648085
Thelin EP, Hall CE, Tyzack GE, Frostell A, Giorgi-Coll S, Alam A, Carpenter KLH, Mitchell J, Tajsic T, Hutchinson PJ et al: Delineating Astrocytic Cytokine Responses in a Human Stem Cell Model of Neural Trauma. J Neurotrauma 2020, 37(1):93-105. PMC6921298
Thiruvalluvan A, de Mattos EP, Brunsting JF, Bakels R, Serlidaki D, Barazzuol L, Conforti P, Fatima A, Koyuncu S, Cattaneo E et al: DNAJB6, a Key Factor in Neuronal Sensitivity to Amyloidogenesis. Mol Cell 2020, 78(2):346-358 e349.
Uggenti C, Lepelley A, Depp M, Badrock AP, Rodero MP, El-Daher MT, Rice GI, Dhir S, Wheeler AP, Dhir A et al: cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing. Nat Genet 2020, 52(12):1364-1372.
Vazquez-Velez GE, Gonzales KA, Revelli JP, Adamski CJ, Alavi Naini F, Bajic A, Craigen E, Richman R, Heman-Ackah SM, Wood MJA et al: Doublecortin-like Kinase 1 Regulates alpha-Synuclein Levels and Toxicity. J Neurosci 2020, 40(2):459-477. PMC6948939
Voisin J, Farina F, Naphade S, Fontaine M, Tshilenge KT, Galicia Aguirre C, Lopez-Ramirez A, Dancourt J, Ginisty A, Sasidharan Nair S et al: FOXO3 targets are reprogrammed as Huntington's disease neural cells and striatal neurons face senescence with p16(INK4a) increase. Aging Cell 2020, 19(11):e13226. PMC7681055
Weisheit I, Kroeger JA, Malik R, Klimmt J, Crusius D, Dannert A, Dichgans M, Paquet D: Detection of Deleterious On-Target Effects after HDR-Mediated CRISPR Editing. Cell Rep 2020, 31(8):107689.
Wen KK, Han SS, Vyas YM: Wiskott-Aldrich syndrome protein senses irradiation-induced DNA damage to coordinate the cell-protective Golgi dispersal response in human T and B lymphocytes. J Allergy Clin Immunol 2020, 145(1):324-334. PMC6949418
White JA, 2nd, Krzystek TJ, Hoffmar-Glennon H, Thant C, Zimmerman K, Iacobucci G, Vail J, Thurston L, Rahman S, Gunawardena S: Excess Rab4 rescues synaptic and behavioral dysfunction caused by defective HTT-Rab4 axonal transport in Huntington's disease. Acta Neuropathol Commun 2020, 8(1):97. PMC7331280
Xu X, Ng B, Sim B, Radulescu CI, Yusof N, Goh WI, Lin S, Lim JSY, Cha Y, Kusko R et al: pS421 huntingtin modulates mitochondrial phenotypes and confers neuroprotection in an HD hiPSC model. Cell Death Dis 2020, 11(9):809.
Zhang W, Ma L, Yang M, Shao Q, Xu J, Lu Z, Zhao Z, Chen R, Chai Y, Chen JF: Cerebral organoid and mouse models reveal a RAB39b-PI3K-mTOR pathway-dependent dysregulation of cortical development leading to macrocephaly/autism phenotypes. Genes Dev 2020.
Zhao Y, Keshiya S, Perera G, Schramko L, Halliday GM, Dzamko N: LRRK2 kinase inhibitors reduce alpha-synuclein in human neuronal cell lines with the G2019S mutation. Neurobiol Dis 2020, 144:105049.
Abdul MM, Ibanez DP, Zhao P, Liu H, Zhong X, Li Y, Zhang M, Li W, Li Y, Ward C et al: Generation of an induced pluripotent stem cell line (GIBHi003-A) from a Parkinson's disease patient with mutant PINK1 (p. I368N). Stem Cell Res 2019, 41:101607.
Ahmed S, Fairen MD, Sabir MS, Pastor P, Ding J, Ispierto L, Butala A, Morris CM, Schulte C, Gasser T et al: MAPT p.V363I mutation: A rare cause of corticobasal degeneration. Neurol Genet 2019, 5(4):e347. PMC6659135
Aviolat H, Pinto RM, Godschall E, Murtha R, Richey HE, Sapp E, Vodicka P, Wheeler VC, Kegel-Gleason KB, DiFiglia M: Assessing average somatic CAG repeat instability at the protein level. Sci Rep 2019, 9(1):19152. PMC6915696
Babos KN, Galloway KE, Kisler K, Zitting M, Li Y, Shi Y, Quintino B, Chow RH, Zlokovic BV, Ichida JK: Mitigating Antagonism between Transcription and Proliferation Allows Near-Deterministic Cellular Reprogramming. Cell Stem Cell 2019.
Bascom R, Schubart JR, Mills S, Smith T, Zukley LM, Francomano CA, McDonnell N: Heritable disorders of connective tissue: Description of a data repository and initial cohort characterization. Am J Med Genet A 2019, 179(4):552-560.
Blauwendraat C, Reed, X., Krohn, L., Heilbron, K., Bandres-Ciga, S., Tan, M., Gibbs, R., Hernandez, D.G., Kumaran, R., Langston, R. and Ponce, L.B.: Genetic modifiers of risk and age at onset in GBA associated Parkinson’s disease and Lewy body dementia. BioRxiv 2019:p.738351.
Burbulla LF, Jeon S, Zheng J, Song P, Silverman RB, Krainc D: A modulator of wild-type glucocerebrosidase improves pathogenic phenotypes in dopaminergic neuronal models of Parkinson's disease. Sci Transl Med 2019, 11(514).
Candelario KM, Balaj L, Zheng T, Skog J, Scheffler B, Breakefield X, Schule B, Steindler DA: Exosome/microvesicle content is altered in leucine-rich repeat kinase 2 mutant induced pluripotent stem cell-derived neural cells. J Comp Neurol 2019.
Chauhan G, Adams HHH, Satizabal CL, Bis JC, Teumer A, Sargurupremraj M, Hofer E, Trompet S, Hilal S, Smith AV et al: Genetic and lifestyle risk factors for MRI-defined brain infarcts in a population-based setting. Neurology 2019. PMC6369905
Cheng W, Wang S, Zhang Z, Morgens DW, Hayes LR, Lee S, Portz B, Xie Y, Nguyen BV, Haney MS et al: CRISPR-Cas9 Screens Identify the RNA Helicase DDX3X as a Repressor of C9ORF72 (GGGGCC)n Repeat-Associated Non-AUG Translation. Neuron 2019, 104(5):885-898 e888. PMC6895427
Cuddy LK, Wani WY, Morella ML, Pitcairn C, Tsutsumi K, Fredriksen K, Justman CJ, Grammatopoulos TN, Belur NR, Zunke F et al: Stress-Induced Cellular Clearance Is Mediated by the SNARE Protein ykt6 and Disrupted by alpha-Synuclein. Neuron 2019, 104(5):869-884 e811. PMC6895429
Custer SK, Foster JN, Astroski JW, Androphy EJ: Abnormal Golgi morphology and decreased COPI function in cells with low levels of SMN. Brain Res 2019, 1706:135-146.
Dowjat K, Adayev T, Wojda U, Brzozowska K, Barczak A, Gabryelewicz T, Hwang YW: Abnormalities of DYRK1A-Cytoskeleton Complexes in the Blood Cells as Potential Biomarkers of Alzheimer's Disease. J Alzheimers Dis 2019, 72(4):1059-1075. PMC6971831
Ellis CA, Churilov L, Epstein MP, Xie SX, Bellows ST, Ottman R, Berkovic SF, Epi KC: Epilepsy in families: Age at onset is a familial trait, independent of syndrome. Ann Neurol 2019, 86(1):91-98. PMC6565452
Fernandez B, Lara Ordonez AJ, Fdez E, Mutez E, Comptdaer T, Leghay C, Kreisler A, Simonin C, Vandewynckel L, Defebvre L et al: Centrosomal cohesion deficits as cellular biomarker in lymphoblastoid cell lines from LRRK2 Parkinson's disease patients. Biochem J 2019.
Fox LM, Kim K, Johnson CW, Chen S, Croce KR, Victor MB, Eenjes E, Bosco JR, Randolph LK, Dragatsis I et al: Huntington's Disease Pathogenesis Is Modified In Vivo by Alfy/Wdfy3 and Selective Macroautophagy. Neuron 2019.
Freel BA, Sheets JN, Francis KR: iPSC modeling of rare pediatric disorders. J Neurosci Methods 2019, 332:108533.
Gelfman S, Dugger S, de Araujo Martins Moreno C, Ren Z, Wolock CJ, Shneider NA, Phatnani H, Cirulli ET, Lasseigne BN, Harris T et al: A new approach for rare variation collapsing on functional protein domains implicates specific genic regions in ALS. Genome Res 2019, 29(5):809-818. PMC6499321
Goodman LD, Prudencio M, Kramer NJ, Martinez-Ramirez LF, Srinivasan AR, Lan M, Parisi MJ, Zhu Y, Chew J, Cook CN et al: Toxic expanded GGGGCC repeat transcription is mediated by the PAF1 complex in C9orf72-associated FTD. Nat Neurosci 2019, 22(6):863-874. PMC6535128
Gouder L, Vitrac A, Goubran-Botros H, Danckaert A, Tinevez JY, Andre-Leroux G, Atanasova E, Lemiere N, Biton A, Leblond CS et al: Altered spinogenesis in iPSC-derived cortical neurons from patients with autism carrying de novo SHANK3 mutations. Sci Rep 2019, 9(1):94. PMC6331634
Hollenbach JA, Norman PJ, Creary LE, Damotte V, Montero-Martin G, Caillier S, Anderson KM, Misra MK, Nemat-Gorgani N, Osoegawa K et al: A specific amino acid motif of HLA-DRB1 mediates risk and interacts with smoking history in Parkinson's disease. Proc Natl Acad Sci U S A 2019.
Hsieh CH, Li L, Vanhauwaert R, Nguyen KT, Davis MD, Bu G, Wszolek ZK, Wang X: Miro1 Marks Parkinson's Disease Subset and Miro1 Reducer Rescues Neuron Loss in Parkinson's Models. Cell Metab 2019, 30(6):1131-1140 e1137. PMC6893131
Johnson JO, Chia, R., Kumaran, R., Alahmady, N., Miller, D.E., Abramzon, Y., Faghri, F., Renton, A.E., Topp, S.D., Pliner, H.A. and Gibbs, J.R.: Mutations in the SPTLC1 gene are a cause of amyotrophic lateral sclerosis that may be amenable to serine supplementation. bioRxiv 2019:p.770339.
Karch CM, Kao AW, Karydas A, Onanuga K, Martinez R, Argouarch A, Wang C, Huang C, Sohn PD, Bowles KR et al: A Comprehensive Resource for Induced Pluripotent Stem Cells from Patients with Primary Tauopathies. Stem Cell Reports 2019, 13(5):939-955. PMC6895712
Keskin S, Brouwers CC, Sogorb-Gonzalez M, Martier R, Depla JA, Valles A, van Deventer SJ, Konstantinova P, Evers MM: AAV5-miHTT Lowers Huntingtin mRNA and Protein without Off-Target Effects in Patient-Derived Neuronal Cultures and Astrocytes. Mol Ther Methods Clin Dev 2019, 15:275-284. PMC6849441
Kim J, Daadi MM: Non-cell autonomous mechanism of Parkinson's disease pathology caused by G2019S LRRK2 mutation in Ashkenazi Jewish patient: Single cell analysis. Brain Res 2019, 1722:146342.
Kulcenty K, Wroblewska JP, Rucinski M, Kozlowska E, Jopek K, Suchorska WM: MicroRNA Profiling During Neural Differentiation of Induced Pluripotent Stem Cells. Int J Mol Sci 2019, 20(15). PMC6696086
Lansdell TA, Fisher C, Simmonds K, Reeves MJ, Woo D, Dorrance AM, Demel SL: Rs10230207 genotype confers changes in HDAC9 and TWIST1, but not FERD3L in lymphoblasts from patients with intracranial aneurysm. Neurogenetics 2019.
Le Caignec C, Pichon O, Briand A, de Courtivron B, Bonnard C, Lindenbaum P, Redon R, Schluth-Bolard C, Diguet F, Rollat-Farnier PA et al: Fryns type mesomelic dysplasia of the upper limbs caused by inverted duplications of the HOXD gene cluster. Eur J Hum Genet 2019.
Lee M, Sim H, Ahn H, Ha J, Baek A, Jeon YJ, Son MY, Kim J: Direct Reprogramming to Human Induced Neuronal Progenitors from Fibroblasts of Familial and Sporadic Parkinson's Disease Patients. Int J Stem Cells 2019, 12(3):474-483. PMC6881039
Lerche H, Berkovic SF, Lowenstein DH, Euro E-CC, Epi PGXC, Epi KCEPGP: Intestinal-Cell Kinase and Juvenile Myoclonic Epilepsy. N Engl J Med 2019, 380(16):e24.
Li H, Ham A, Ma TC, Kuo SH, Kanter E, Kim D, Ko HS, Quan Y, Sardi SP, Li A et al: Mitochondrial dysfunction and mitophagy defect triggered by heterozygous GBA mutations. Autophagy 2019, 15(1):113-130. PMC6287702
Linville RM, DeStefano JG, Sklar MB, Xu Z, Farrell AM, Bogorad MI, Chu C, Walczak P, Cheng L, Mahairaki V et al: Human iPSC-derived blood-brain barrier microvessels: validation of barrier function and endothelial cell behavior. Biomaterials 2019, 190-191:24-37. PMC6289621
Martier R, Liefhebber JM, Garcia-Osta A, Miniarikova J, Cuadrado-Tejedor M, Espelosin M, Ursua S, Petry H, van Deventer SJ, Evers MM et al: Targeting RNA-Mediated Toxicity in C9orf72 ALS and/or FTD by RNAi-Based Gene Therapy. Mol Ther Nucleic Acids 2019, 16:26-37. PMC6393708
Martier R, Liefhebber JM, Miniarikova J, van der Zon T, Snapper J, Kolder I, Petry H, van Deventer SJ, Evers MM, Konstantinova P: Artificial MicroRNAs Targeting C9orf72 Can Reduce Accumulation of Intra-nuclear Transcripts in ALS and FTD Patients. Mol Ther Nucleic Acids 2019, 14:593-608. PMC6378669
Martier R, Sogorb-Gonzalez M, Stricker-Shaver J, Hubener-Schmid J, Keskin S, Klima J, Toonen LJ, Juhas S, Juhasova J, Ellederova Z et al: Development of an AAV-Based MicroRNA Gene Therapy to Treat Machado-Joseph Disease. Mol Ther Methods Clin Dev 2019, 15:343-358. PMC6889651
Nel M, Agenbag GM, Henning F, Cross HM, Esterhuizen A, Heckmann JM: C9orf72 repeat expansions in South Africans with amyotrophic lateral sclerosis. J Neurol Sci 2019, 401:51-54. PMC6556408
Nickels SL, Walter J, Bolognin S, Gerard D, Jaeger C, Qing X, Tisserand J, Jarazo J, Hemmer K, Harms A et al: Impaired serine metabolism complements LRRK2-G2019S pathogenicity in PD patients. Parkinsonism Relat Disord 2019, 67:48-55.
Norris S, Perlmutter J, Wright LJ, Hieshetter J, Kuman K, Jinnah H: The Dystonia Coalition Natural History Project: Nine Years of Progress (P4.8-004). Neurology 2019, 92(15 Supplement):P4.8-004.
Page S, Raut S, Al-Ahmad A: Oxygen-Glucose Deprivation/Reoxygenation-Induced Barrier Disruption at the Human Blood-Brain Barrier is Partially Mediated Through the HIF-1 Pathway. Neuromolecular Med 2019, 21(4):414-431.
Pescosolido MF, Kavanaugh BC, Pochet N, Schmidt M, Jerskey BA, Rogg JM, De Jager PL, Young-Pearse TL, Liu JS, Morrow EM: Complex Neurological Phenotype in Female Carriers of NHE6 Mutations. Mol Neuropsychiatry 2019, 5(2):98-108. PMC6528080
Pungpapong V, Zhang M, Zhang D: Integrating Biological Knowledge Into Case-Control Analysis Through Iterated Conditional Modes/Medians Algorithm. J Comput Biol 2019.
Rafehi H, Szmulewicz DJ, Bennett MF, Sobreira NLM, Pope K, Smith KR, Gillies G, Diakumis P, Dolzhenko E, Eberle MA et al: Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS. Am J Hum Genet 2019, 105(1):151-165. PMC6612533
Ramírez-Nuñez O, Jové, M., Torres, P., Sol, J., Fontdevila, L., Romero-Guevara, R., Ayala, V., Rossi, C., Boada, J., Povedano, M. and Andrés-Benito, P: Nuclear lipidome is altered in amyotrophic lateral sclerosis: a preliminary study. bioRxiv 2019:p.682526.
Ren C, Wang F, Guan LN, Cheng XY, Zhang CY, Geng DQ, Liu CF: A compendious summary of Parkinson's disease patient-derived iPSCs in the first decade. Ann Transl Med 2019, 7(22):685. PMC6944564
Sabir MS, Blauwendraat C, Ahmed S, Serrano GE, Beach TG, Perkins M, Rice AC, Masliah E, Morris CM, Pihlstrom L et al: Assessment of APOE in atypical parkinsonism syndromes. Neurobiol Dis 2019, 127:142-146.
Saez ME, Gonzalez-Perez A, Hernandez-Olasagarre B, Bea A, Moreno-Grau S, de Rojas I, Monte-Rubio G, Orellana A, Valero S, Comella JX et al: Genome Wide Meta-Analysis identifies common genetic signatures shared by heart function and Alzheimer's disease. Sci Rep 2019, 9(1):16665. PMC6853976
Salani M, Urbina F, Brenner A, Morini E, Shetty R, Gallagher CS, Law EA, Sunshine S, Finneran DJ, Johnson G et al: Development of a Screening Platform to Identify Small Molecules That Modify ELP1 Pre-mRNA Splicing in Familial Dysautonomia. SLAS Discov 2019, 24(1):57-67.
Sarraf SA, Sideris DP, Giagtzoglou N, Ni L, Kankel MW, Sen A, Bochicchio LE, Huang CH, Nussenzweig SC, Worley SH et al: PINK1/Parkin Influences Cell Cycle by Sequestering TBK1 at Damaged Mitochondria, Inhibiting Mitosis. Cell Rep 2019, 29(1):225-235 e225. PMC6880866
Shi Y, Hung ST, Rocha G, Lin S, Linares GR, Staats KA, Seah C, Wang Y, Chickering M, Lai J et al: Identification and therapeutic rescue of autophagosome and glutamate receptor defects in C9ORF72 and sporadic ALS neurons. JCI Insight 2019, 5. PMC6693831
Tagliafierro L, Ilich E, Moncalvo M, Gu J, Sriskanda A, Grenier C, Murphy SK, Chiba-Falek O, Kantor B: Lentiviral Vector Platform for the Efficient Delivery of Epigenome-editing Tools into Human Induced Pluripotent Stem Cell-derived Disease Models. J Vis Exp 2019(145). PMC7144461
Tagliafierro L, Zamora ME, Chiba-Falek O: Multiplication of the SNCA locus exacerbates neuronal nuclear aging. Hum Mol Genet 2019, 28(3):407-421. PMC6337700
Tousley A, Iuliano M, Weisman E, Sapp E, Zhang N, Vodicka P, Alexander J, Aviolat H, Gatune L, Reeves P et al: Rac1 Activity Is Modulated by Huntingtin and Dysregulated in Models of Huntington's Disease. J Huntingtons Dis 2019, 8(1):53-69. PMC6398565
Valley HC, Bukis KM, Bell A, Cheng Y, Wong E, Jordan NJ, Allaire NE, Sivachenko A, Liang F, Bihler H et al: Isogenic cell models of cystic fibrosis-causing variants in natively expressing pulmonary epithelial cells. J Cyst Fibros 2019, 18(4):476-483.
van der Lee SJ, Conway OJ, Jansen I, Carrasquillo MM, Kleineidam L, van den Akker E, Hernandez I, van Eijk KR, Stringa N, Chen JA et al: A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer's disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity. Acta Neuropathol 2019, 138(2):237-250. PMC6660501
Vethe H, Ghila L, Berle M, Hoareau L, Haaland OA, Scholz H, Paulo JA, Chera S, Raeder H: The Effect of Wnt Pathway Modulators on Human iPSC-Derived Pancreatic Beta Cell Maturation. Front Endocrinol (Lausanne) 2019, 10:293. PMC6518024
Walter J, Bolognin S, Antony PMA, Nickels SL, Poovathingal SK, Salamanca L, Magni S, Perfeito R, Hoel F, Qing X et al: Neural Stem Cells of Parkinson's Disease Patients Exhibit Aberrant Mitochondrial Morphology and Functionality. Stem Cell Reports 2019, 12(5):878-889. PMC6522948
Wilkinson B, Evgrafov OV, Zheng D, Hartel N, Knowles JA, Graham NA, Ichida JK, Coba MP: Endogenous Cell Type-Specific Disrupted in Schizophrenia 1 Interactomes Reveal Protein Networks Associated With Neurodevelopmental Disorders. Biol Psychiatry 2019, 85(4):305-316. PMC6251761
Xue Y, Zhan X, Sun S, Karuppagounder SS, Xia S, Dawson VL, Dawson TM, Laterra J, Zhang J, Ying M: Synthetic mRNAs Drive Highly Efficient iPS Cell Differentiation to Dopaminergic Neurons. Stem Cells Transl Med 2019, 8(2):112-123. PMC6344911
Yamada SB, Gendron TF, Niccoli T, Genuth NR, Grosely R, Shi Y, Glaria I, Kramer NJ, Nakayama L, Fang S et al: RPS25 is required for efficient RAN translation of C9orf72 and other neurodegenerative disease-associated nucleotide repeats. Nat Neurosci 2019, 22(9):1383-1388. PMC6713615
Zeitler B, Froelich S, Marlen K, Shivak DA, Yu Q, Li D, Pearl JR, Miller JC, Zhang L, Paschon DE et al: Allele-selective transcriptional repression of mutant HTT for the treatment of Huntington's disease. Nat Med 2019, 25(7):1131-1142.
Argus JP, Wilks MQ, Zhou QD, Hsieh WY, Khialeeva E, Hoi XP, Bui V, Xu S, Yu AK, Wang ES et al: Development and Application of FASA, a Model for Quantifying Fatty Acid Metabolism Using Stable Isotope Labeling. Cell Rep 2018, 25(10):2919-2934 e2918. PMC6432944
Assoum M, Lines MA, Elpeleg O, Darmency V, Whiting S, Edvardson S, Devinsky O, Heinzen E, Hernan RR, Antignac C et al: Further delineation of the clinical spectrum of de novo TRIM8 truncating mutations. Am J Med Genet A 2018, 176(11):2470-2478.
Babos KN, Galloway KE, Kisler KK, Zitting M, Li Y, Quintino B, Chow RH, Zlokovic BV, Ichida JK: Balancing dynamic tradeoffs to drive cellular reprogramming. bioRxiv 2018:393934.
Bell SM, Barnes K, Clemmens H, Al-Rafiah AR, Al-Ofi EA, Leech V, Bandmann O, Shaw PJ, Blackburn DJ, Ferraiuolo L et al: Ursodeoxycholic Acid Improves Mitochondrial Function and Redistributes Drp1 in Fibroblasts from Patients with Either Sporadic or Familial Alzheimer's Disease. J Mol Biol 2018, 430(21):3942-3953. PMC6193139
Blauwendraat C, Reed X, Kia DA, Gan-Or Z, Lesage S, Pihlstrom L, Guerreiro R, Gibbs JR, Sabir M, Ahmed S et al: Frequency of Loss of Function Variants in LRRK2 in Parkinson Disease. JAMA Neurol 2018.
Bowie LE, Maiuri T, Alpaugh M, Gabriel M, Arbez N, Galleguillos D, Hung CLK, Patel S, Xia J, Hertz NT et al: N6-Furfuryladenine is protective in Huntington's disease models by signaling huntingtin phosphorylation. Proc Natl Acad Sci U S A 2018, 115(30):E7081-E7090. PMC6064984
Bram E, Javanmardi K, Nicholson K, Culp K, Thibert JR, Kemppainen J, Le V, Schlageter A, Hadd A, Latham GJ: Comprehensive genotyping of the C9orf72 hexanucleotide repeat region in 2095 ALS samples from the NINDS collection using a two-mode, long-read PCR assay. Amyotroph Lateral Scler Frontotemporal Degener 2018:1-8.
Cantley W, Du C, Lomoio S, DePalma T, Peirent E, Kleinknecht D, Hunter M, Tang-Schomer M, Tesco G, Kaplan DL: Functional and Sustainable 3D Human Neural Network Models from Pluripotent Stem Cells. ACS Biomater Sci Eng 2018, 4(12):4278-4288. PMC7725274
Chahine LM, Urbe L, Caspell-Garcia C, Aarsland D, Alcalay R, Barone P, Burn D, Espay AJ, Hamilton JL, Hawkins KA et al: Cognition among individuals along a spectrum of increased risk for Parkinson's disease. PLoS One 2018, 13(8):e0201964. PMC6101368
Cole JW, Xu H, Ryan K, Jaworek T, Dueker N, McArdle P, Gaynor B, Cheng YC, O'Connell J, Bevan S et al: Genetics of the thrombomodulin-endothelial cell protein C receptor system and the risk of early-onset ischemic stroke. PLoS One 2018, 13(11):e0206554. PMC6211695
Connolly B, Isaacs C, Cheng L, Asrani KH, Subramanian RR: SERPINA1 mRNA as a Treatment for Alpha-1 Antitrypsin Deficiency. J Nucleic Acids 2018, 2018:8247935. PMC6020464
Dairaghi L, Flannery E, Giacobini P, Saglam A, Saadi H, Constantin S, Casoni F, Howell BW, Wray S: Reelin Can Modulate Migration of Olfactory Ensheathing Cells and Gonadotropin Releasing Hormone Neurons via the Canonical Pathway. Front Cell Neurosci 2018, 12:228. PMC6088185
Estrada K, Whelan CW, Zhao F, Bronson P, Handsaker RE, Sun C, Carulli JP, Harris T, Ransohoff RM, McCarroll SA et al: A whole-genome sequence study identifies genetic risk factors for neuromyelitis optica. Nat Commun 2018, 9(1):1929. PMC5955905
Fog CK, Zago P, Malini E, Solanko LM, Peruzzo P, Bornaes C, Magnoni R, Mehmedbasic A, Petersen NHT, Bembi B et al: The heat shock protein amplifier arimoclomol improves refolding, maturation and lysosomal activity of glucocerebrosidase. EBioMedicine 2018, 38:142-153. PMC6306395
Fontaine KA, Leon KE, Khalid MM, Tomar S, Jimenez-Morales D, Dunlap M, Kaye JA, Shah PS, Finkbeiner S, Krogan NJ et al: The Cellular NMD Pathway Restricts Zika Virus Infection and Is Targeted by the Viral Capsid Protein. MBio 2018, 9(6). PMC6222128
Frederick NM, Shah PV, Didonna A, Langley MR, Kanthasamy AG, Opal P: Loss of the dystonia gene Thap1 leads to transcriptional deficits that converge on common pathogenic pathways in dystonic syndromes. Hum Mol Genet 2018.
Gray KM, Kaifer KA, Baillat D, Wen Y, Bonacci TR, Ebert AD, Raimer AC, Spring AM, Have ST, Glascock JJ et al: Self-oligomerization regulates stability of survival motor neuron protein isoforms by sequestering an SCF(Slmb) degron. Mol Biol Cell 2018, 29(2):96-110. PMC5909936
Heinzen EL, O'Neill AC, Zhu X, Allen AS, Bahlo M, Chelly J, Chen MH, Dobyns WB, Freytag S, Guerrini R et al: De novo and inherited private variants in MAP1B in periventricular nodular heterotopia. PLoS Genet 2018, 14(5):e1007281. PMC5965900
Ho DH, Kim H, Nam D, Sim H, Kim J, Kim HG, Son I, Seol W: LRRK2 impairs autophagy by mediating phosphorylation of leucyl-tRNA synthetase. Cell Biochem Funct 2018, 36(8):431-442.
Hoijer I, Tsai YC, Clark TA, Kotturi P, Dahl N, Stattin EL, Bondeson ML, Feuk L, Gyllensten U, Ameur A: Detailed analysis of HTT repeat elements in human blood using targeted amplification-free long-read sequencing. Hum Mutat 2018, 39(9):1262-1272. PMC6175010
Irmak D, Fatima A, Gutierrez-Garcia R, Rinschen MM, Wagle P, Altmuller J, Arrigoni L, Hummel B, Klein C, Frese CK et al: Mechanism suppressing H3K9 trimethylation in pluripotent stem cells and its demise by polyQ-expanded huntingtin mutations. Hum Mol Genet 2018, 27(23):4117-4134.
Janczura KJ, Volmar CH, Sartor GC, Rao SJ, Ricciardi NR, Lambert G, Brothers SP, Wahlestedt C: Inhibition of HDAC3 reverses Alzheimer's disease-related pathologies in vitro and in the 3xTg-AD mouse model. Proc Natl Acad Sci U S A 2018, 115(47):E11148-E11157. PMC6255210
Je G, Guhathakurta S, Yun SP, Ko HS, Kim YS: A novel extended form of alpha-synuclein 3'UTR in the human brain. Mol Brain 2018, 11(1):29. PMC5970512
Joshi AU, Saw NL, Vogel H, Cunnigham AD, Shamloo M, Mochly-Rosen D: Inhibition of Drp1/Fis1 interaction slows progression of amyotrophic lateral sclerosis. EMBO Mol Med 2018. PMC5840540
Kantor B, Tagliafierro L, Gu J, Zamora ME, Ilich E, Grenier C, Huang ZY, Murphy S, Chiba-Falek O: Downregulation of SNCA Expression by Targeted Editing of DNA Methylation: A Potential Strategy for Precision Therapy in PD. Mol Ther 2018, 26(11):2638-2649. PMC6224806
Kelley KW, Ben Haim L, Schirmer L, Tyzack GE, Tolman M, Miller JG, Tsai HH, Chang SM, Molofsky AV, Yang Y et al: Kir4.1-Dependent Astrocyte-Fast Motor Neuron Interactions Are Required for Peak Strength. Neuron 2018, 98(2):306-319 e307. PMC5919779
Kim S, Yun SP, Lee S, Umanah GE, Bandaru VVR, Yin X, Rhee P, Karuppagounder SS, Kwon SH, Lee H et al: GBA1 deficiency negatively affects physiological alpha-synuclein tetramers and related multimers. Proc Natl Acad Sci U S A 2018, 115(4):798-803. PMC5789900
Koyuncu S, Saez I, Lee HJ, Gutierrez-Garcia R, Pokrzywa W, Fatima A, Hoppe T, Vilchez D: The ubiquitin ligase UBR5 suppresses proteostasis collapse in pluripotent stem cells from Huntington's disease patients. Nat Commun 2018, 9(1):2886. PMC6056416
Lee SW, Oh YM, Lu YL, Kim WK, Yoo AS: MicroRNAs Overcome Cell Fate Barrier by Reducing EZH2-Controlled REST Stability during Neuronal Conversion of Human Adult Fibroblasts. Dev Cell 2018, 46(1):73-84 e77. PMC6082428
Li H, Jiang H, Zhang B, Feng J: Modeling Parkinson's Disease Using Patient-specific Induced Pluripotent Stem Cells. J Parkinsons Dis 2018, 8(4):479-493. PMC6218140
Lin YT, Seo J, Gao F, Feldman HM, Wen HL, Penney J, Cam HP, Gjoneska E, Raja WK, Cheng J et al: APOE4 Causes Widespread Molecular and Cellular Alterations Associated with Alzheimer's Disease Phenotypes in Human iPSC-Derived Brain Cell Types. Neuron 2018, 98(6):1294. PMC6048952
Lo Cicero A, Saidani M, Allouche J, Egesipe AL, Hoch L, Bruge C, Sigaudy S, De Sandre-Giovannoli A, Levy N, Baldeschi C et al: Pathological modelling of pigmentation disorders associated with Hutchinson-Gilford Progeria Syndrome (HGPS) revealed an impaired melanogenesis pathway in iPS-derived melanocytes. Sci Rep 2018, 8(1):9112. PMC6002548
Luisier R, Tyzack GE, Hall CE, Mitchell JS, Devine H, Taha DM, Malik B, Meyer I, Greensmith L, Newcombe J et al: Intron retention and nuclear loss of SFPQ are molecular hallmarks of ALS. Nat Commun 2018, 9(1):2010. PMC5964114
Malik R, Chauhan G, Traylor M, Sargurupremraj M, Okada Y, Mishra A, Rutten-Jacobs L, Giese AK, van der Laan SW, Gretarsdottir S et al: Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes. Nat Genet 2018, 50(4):524-537. PMC5968830
Mandel M, de Una-Alvarez J, Simon DK, Betensky RA: Inverse probability weighted Cox regression for doubly truncated data. Biometrics 2018, 74(2):481-487. PMC5843502
Marek K, Chowdhury S, Siderowf A, Lasch S, Coffey CS, Caspell-Garcia C, Simuni T, Jennings D, Tanner CM, Trojanowski JQ et al: The Parkinson's progression markers initiative (PPMI) - establishing a PD biomarker cohort. Ann Clin Transl Neurol 2018, 5(12):1460-1477. PMC6292383
McCoy MJ, Paul AJ, Victor MB, Richner M, Gabel HW, Gong H, Yoo AS, Ahn TH: LONGO: an R package for interactive gene length dependent analysis for neuronal identity. Bioinformatics 2018, 34(13):i422-i428. PMC6022641
McGowan H, Mirabella VR, Hamod A, Karakhanyan A, Mlynaryk N, Moore JC, Tischfield JA, Hart RP, Pang ZP: hsa-let-7c miRNA Regulates Synaptic and Neuronal Function in Human Neurons. Front Synaptic Neurosci 2018, 10:19. PMC6056636
Milanese C, Tapias V, Gabriels S, Cerri S, Levandis G, Blandini F, Tresini M, Shiva S, Greenamyre JT, Gladwin MT et al: Mitochondrial Complex I Reversible S-Nitrosation Improves Bioenergetics and Is Protective in Parkinson's Disease. Antioxid Redox Signal 2018, 28(1):44-61. PMC5749586
Mueller KA, Glajch KE, Huizenga MN, Wilson RA, Granucci EJ, Dios AM, Tousley AR, Iuliano M, Weisman E, LaQuaglia MJ et al: Hippo Signaling Pathway Dysregulation in Human Huntington's Disease Brain and Neuronal Stem Cells. Sci Rep 2018, 8(1):11355. PMC6063913
Nguyen M, Krainc D: LRRK2 phosphorylation of auxilin mediates synaptic defects in dopaminergic neurons from patients with Parkinson's disease. Proc Natl Acad Sci U S A 2018, 115(21):5576-5581.
Nicolas A, Kenna KP, Renton AE, Ticozzi N, Faghri F, Chia R, Dominov JA, Kenna BJ, Nalls MA, Keagle P et al: Genome-wide Analyses Identify KIF5A as a Novel ALS Gene. Neuron 2018, 97(6):1268-1283 e1266. PMC5867896
Osborn TM, Beagan J, Isacson O: Increased motor neuron resilience by small molecule compounds that regulate IGF-II expression. Neurobiol Dis 2018, 110:218-230.
Ottman R, Freyer C, Mefford HC, Poduri A, Lowenstein DH, Epilepsy Return of Results Workshop P: Return of individual results in epilepsy genomic research: A view from the field. Epilepsia 2018, 59(9):1635-1642. PMC6119474
Paul S, Dansithong W, Figueroa KP, Scoles DR, Pulst SM: Staufen1 links RNA stress granules and autophagy in a model of neurodegeneration. Nat Commun 2018, 9(1):3648. PMC6128856
Pavoni S, Jarray R, Nassor F, Guyot AC, Cottin S, Rontard J, Mikol J, Mabondzo A, Deslys JP, Yates F: Small-molecule induction of Abeta-42 peptide production in human cerebral organoids to model Alzheimer's disease associated phenotypes. PLoS One 2018, 13(12):e0209150. PMC6296660
Pawlikowska L, Nelson J, Guo DE, McCulloch CE, Lawton MT, Kim H, Faughnan ME, Brain Vascular Malformation Consortium HHTIG: Association of common candidate variants with vascular malformations and intracranial hemorrhage in hereditary hemorrhagic telangiectasia. Mol Genet Genomic Med 2018, 6(3):350-356. PMC6014448
Phelps IG, Dempsey JC, Grout ME, Isabella CR, Tully HM, Doherty D, Bachmann-Gagescu R: Interpreting the clinical significance of combined variants in multiple recessive disease genes: systematic investigation of Joubert syndrome yields little support for oligogenicity. Genet Med 2018, 20(2):223-233. PMC5797514
Pinarbasi ES, Karamyshev AL, Tikhonova EB, Wu IH, Hudson H, Thomas PJ: Pathogenic Signal Sequence Mutations in Progranulin Disrupt SRP Interactions Required for mRNA Stability. Cell Rep 2018, 23(10):2844-2851. PMC6097231
Ratcliffe LE, Vazquez Villasenor I, Jennings L, Heath PR, Mortiboys H, Schwartzentruber A, Karyka E, Simpson JE, Ince PG, Garwood CJ et al: Loss of IGF1R in Human Astrocytes Alters Complex I Activity and Support for Neurons. Neuroscience 2018, 390:46-59. PMC6372003
Romano G, Holodkov N, Klima R, Grilli F, Guarnaccia C, Nizzardo M, Rizzo F, Garcia R, Feiguin F: Downregulation of glutamic acid decarboxylase in Drosophila TDP-43-null brains provokes paralysis by affecting the organization of the neuromuscular synapses. Sci Rep 2018, 8(1):1809. PMC5789004
Santarriaga S, Haver HN, Kanack AJ, Fikejs AS, Sison SL, Egner JM, Bostrom JR, Seminary ER, Hill RB, Link BA et al: SRCP1 Conveys Resistance to Polyglutamine Aggregation. Mol Cell 2018, 71(2):216-228 e217. PMC6091221
Santhanam N, Kumanchik L, Guo X, Sommerhage F, Cai Y, Jackson M, Martin C, Saad G, McAleer CW, Wang Y et al: Stem cell derived phenotypic human neuromuscular junction model for dose response evaluation of therapeutics. Biomaterials 2018, 166:64-78. PMC5866791
Santiago JA, Bottero V, Potashkin JA: Evaluation of RNA Blood Biomarkers in the Parkinson's Disease Biomarkers Program. Front Aging Neurosci 2018, 10:157. PMC5986959
Schwartzenburg J, Juncker M, Reed R, Desai S: Increased ISGylation in Cases of TBI-Exposed ALS Veterans. J Neuropathol Exp Neurol 2018. PMC6380302
Seminary ER, Sison SL, Ebert AD: Modeling Protein Aggregation and the Heat Shock Response in ALS iPSC-Derived Motor Neurons. Front Neurosci 2018, 12:86. PMC5826239
Shaltouki A, Hsieh CH, Kim MJ, Wang X: Alpha-synuclein delays mitophagy and targeting Miro rescues neuron loss in Parkinson's models. Acta Neuropathol 2018, 136(4):607-620. PMC6123262
Shendre A, Parmar GM, Dillon C, Beasley TM, Limdi NA: Influence of Age on Warfarin Dose, Anticoagulation Control, and Risk of Hemorrhage. Pharmacotherapy 2018.
Shi Y, Lin S, Staats KA, Li Y, Chang WH, Hung ST, Hendricks E, Linares GR, Wang Y, Son EY et al: Haploinsufficiency leads to neurodegeneration in C9ORF72 ALS/FTD human induced motor neurons. Nat Med 2018, 24(3):313-325.
Sima N, Li R, Huang W, Xu M, Beers J, Zou J, Titus S, Ottinger EA, Marugan JJ, Xie X et al: Neural stem cells for disease modeling and evaluation of therapeutics for infantile (CLN1/PPT1) and late infantile (CLN2/TPP1) neuronal ceroid lipofuscinoses. Orphanet J Rare Dis 2018, 13(1):54. PMC5891977
Stelcer E, Kulcenty K, Suchorska WM: Chondrocytes differentiated from human induced pluripotent stem cells: Response to ionizing radiation. PLoS One 2018, 13(10):e0205691. PMC6198947
Suh E, Grando K, Van Deerlin VM: Validation of a Long-Read PCR Assay for Sensitive Detection and Sizing of C9orf72 Hexanucleotide Repeat Expansions. J Mol Diagn 2018, 20(6):871-882. PMC6222278
Sung YJ, Winkler TW, de Las Fuentes L, Bentley AR, Brown MR, Kraja AT, Schwander K, Ntalla I, Guo X, Franceschini N et al: A Large-Scale Multi-ancestry Genome-wide Study Accounting for Smoking Behavior Identifies Multiple Significant Loci for Blood Pressure. Am J Hum Genet 2018, 102(3):375-400. PMC5985266
Swaroop M, Brooks MJ, Gieser L, Swaroop A, Zheng W: Patient iPSC-derived neural stem cells exhibit phenotypes in concordance with the clinical severity of mucopolysaccharidosis I. Hum Mol Genet 2018, 27(20):3612-3626.
Switonska K, Szlachcic WJ, Handschuh L, Wojciechowski P, Marczak L, Stelmaszczuk M, Figlerowicz M, Figiel M: Identification of Altered Developmental Pathways in Human Juvenile HD iPSC With 71Q and 109Q Using Transcriptome Profiling. Front Cell Neurosci 2018, 12:528. PMC6345698
Tank EM, Figueroa-Romero C, Hinder LM, Bedi K, Archbold HC, Li X, Weskamp K, Safren N, Paez-Colasante X, Pacut C et al: Abnormal RNA stability in amyotrophic lateral sclerosis. Nat Commun 2018, 9(1):2845. PMC6054632
Teng YD, Wang L, Zeng X, Wu L, Toktas Z, Kabatas S, Zafonte RD: Updates on Human Neural Stem Cells: From Generation, Maintenance, and Differentiation to Applications in Spinal Cord Injury Research. Results Probl Cell Differ 2018, 66:233-248.
Victor MB, Richner M, Olsen HE, Lee SW, Monteys AM, Ma C, Huh CJ, Zhang B, Davidson BL, Yang XW et al: Striatal neurons directly converted from Huntington's disease patient fibroblasts recapitulate age-associated disease phenotypes. Nat Neurosci 2018, 21(3):341-352. PMC5857213
Vijayan M, Kumar S, Yin X, Zafer D, Chanana V, Cengiz P, Reddy PH: Identification of novel circulatory microRNA signatures linked to patients with ischemic stroke. Hum Mol Genet 2018, 27(13):2318-2329. PMC6005038
Wong MY, Doan ND, DiChiara AS, Papa LJ, 3rd, Cheah JH, Soule CK, Watson N, Hulleman JD, Shoulders MD: A High-Throughput Assay for Collagen Secretion Suggests an Unanticipated Role for Hsp90 in Collagen Production. Biochemistry 2018, 57(19):2814-2827. PMC6231715
Zafar F, Valappil RA, Kim S, Johansen KK, Chang ALS, Tetrud JW, Eis PS, Hatchwell E, Langston JW, Dickson DW et al: Genetic fine-mapping of the Iowan SNCA gene triplication in a patient with Parkinson's disease. NPJ Parkinsons Dis 2018, 4:18. PMC6003950 competing interests.
Zou L, Xue Y, Jones M, Heinbockel T, Ying M, Zhan X: The Effects of Quinine on Neurophysiological Properties of Dopaminergic Neurons. Neurotox Res 2018, 34(1):62-73.
Zunke F, Moise AC, Belur NR, Gelyana E, Stojkovska I, Dzaferbegovic H, Toker NJ, Jeon S, Fredriksen K, Mazzulli JR: Reversible Conformational Conversion of alpha-Synuclein into Toxic Assemblies by Glucosylceramide. Neuron 2018, 97(1):92-107 e110. PMC6013314
Abernathy DG, Kim WK, McCoy MJ, Lake AM, Ouwenga R, Lee SW, Xing X, Li D, Lee HJ, Heuckeroth RO et al: MicroRNAs Induce a Permissive Chromatin Environment that Enables Neuronal Subtype-Specific Reprogramming of Adult Human Fibroblasts. Cell Stem Cell 2017, 21(3):332-348 e339. PMC5679239
Aguisanda F, Yeh CD, Chen CZ, Li R, Beers J, Zou J, Thorne N, Zheng W: Neural stem cells for disease modeling of Wolman disease and evaluation of therapeutics. Orphanet J Rare Dis 2017, 12(1):120. PMC5490176
Al-Ahmad AJ: Comparative study of expression and activity of glucose transporters between stem cell-derived brain microvascular endothelial cells and hCMEC/D3 cells. Am J Physiol Cell Physiol 2017, 313(4):C421-C429. PMC5668574
Ash PEA, Stanford EA, Al Abdulatif A, Ramirez-Cardenas A, Ballance HI, Boudeau S, Jeh A, Murithi JM, Tripodis Y, Murphy GJ et al: Dioxins and related environmental contaminants increase TDP-43 levels. Mol Neurodegener 2017, 12(1):35. PMC5420162
Bhinge A, Namboori SC, Zhang X, VanDongen AMJ, Stanton LW: Genetic Correction of SOD1 Mutant iPSCs Reveals ERK and JNK Activated AP1 as a Driver of Neurodegeneration in Amyotrophic Lateral Sclerosis. Stem Cell Reports 2017, 8(4):856-869. PMC5390134
Celestino-Soper PB, Gao H, Lynnes TC, Lin H, Liu Y, Spoonamore KG, Chen PS, Vatta M: Validation and Utilization of a Clinical Next-Generation Sequencing Panel for Selected Cardiovascular Disorders. Front Cardiovasc Med 2017, 4:11. PMC5350117
Chao MJ, Gillis T, Atwal RS, Mysore JS, Arjomand J, Harold D, Holmans P, Jones L, Orth M, Myers RH et al: Haplotype-based stratification of Huntington's disease. Eur J Hum Genet 2017, 25(11):1202-1209. PMC5643960
Chen MZ, Moily NS, Bridgford JL, Wood RJ, Radwan M, Smith TA, Song Z, Tang BZ, Tilley L, Xu X et al: A thiol probe for measuring unfolded protein load and proteostasis in cells. Nat Commun 2017, 8(1):474. PMC5589734
Core JQ, Mehrabi M, Robinson ZR, Ochs AR, McCarthy LA, Zaragoza MV, Grosberg A: Age of heart disease presentation and dysmorphic nuclei in patients with LMNA mutations. PLoS One 2017, 12(11):e0188256. PMC5693421
Dai S, Dulcey AE, Hu X, Wassif CA, Porter FD, Austin CP, Ory DS, Marugan J, Zheng W: Methyl-beta-cyclodextrin restores impaired autophagy flux in Niemann-Pick C1-deficient cells through activation of AMPK. Autophagy 2017, 13(8):1435-1451. PMC5584846
Dennis MY, Harshman L, Nelson BJ, Penn O, Cantsilieris S, Huddleston J, Antonacci F, Penewit K, Denman L, Raja A et al: The evolution and population diversity of human-specific segmental duplications. Nat Ecol Evol 2017, 1(3):69. PMC5450946
Donlin-Asp PG, Fallini C, Campos J, Chou CC, Merritt ME, Phan HC, Bassell GJ, Rossoll W: The Survival of Motor Neuron Protein Acts as a Molecular Chaperone for mRNP Assembly. Cell Rep 2017, 18(7):1660-1673. PMC5492976
Dzamko N, Gysbers A, Perera G, Bahar A, Shankar A, Gao J, Fu Y, Halliday GM: Toll-like receptor 2 is increased in neurons in Parkinson's disease brain and may contribute to alpha-synuclein pathology. Acta Neuropathol 2017, 133(2):303-319. PMC5250664
Epi KC: Phenotypic analysis of 303 multiplex families with common epilepsies. Brain 2017, 140(8):2144-2156. PMC6059182
Epi Kc, Epilepsy Phenome/Genome P: Ultra-rare genetic variation in common epilepsies: a case-control sequencing study. Lancet Neurol 2017, 16(2):135-143.
Epi KC, Euro E-RESC, Epilepsy Phenome Genome P: Application of rare variant transmission disequilibrium tests to epileptic encephalopathy trio sequence data. Eur J Hum Genet 2017, 25(7):894-899. PMC5520073
Gallagher MD, Posavi M, Huang P, Unger TL, Berlyand Y, Gruenewald AL, Chesi A, Manduchi E, Wells AD, Grant SFA et al: A Dementia-Associated Risk Variant near TMEM106B Alters Chromatin Architecture and Gene Expression. Am J Hum Genet 2017, 101(5):643-663. PMC5673619
Garcia-Sanz P, Orgaz L, Bueno-Gil G, Espadas I, Rodriguez-Traver E, Kulisevsky J, Gutierrez A, Davila JC, Gonzalez-Polo RA, Fuentes JM et al: N370S-GBA1 mutation causes lysosomal cholesterol accumulation in Parkinson's disease. Mov Disord 2017, 32(10):1409-1422.
Griffin NG, Cronin KD, Walley NM, Hulette CM, Grant GA, Mikati MA, LaBreche HG, Rehder CW, Allen AS, Crino PB et al: Somatic uniparental disomy of Chromosome 16p in hemimegalencephaly. Cold Spring Harb Mol Case Stud 2017, 3(5). PMC5593155
Grima JC, Daigle JG, Arbez N, Cunningham KC, Zhang K, Ochaba J, Geater C, Morozko E, Stocksdale J, Glatzer JC et al: Mutant Huntingtin Disrupts the Nuclear Pore Complex. Neuron 2017, 94(1):93-107 e106. PMC5595097
Hall CE, Yao Z, Choi M, Tyzack GE, Serio A, Luisier R, Harley J, Preza E, Arber C, Crisp SJ et al: Progressive Motor Neuron Pathology and the Role of Astrocytes in a Human Stem Cell Model of VCP-Related ALS. Cell Rep 2017, 19(9):1739-1749. PMC5464993
Heman-Ackah SM, Manzano R, Hoozemans JJM, Scheper W, Flynn R, Haerty W, Cowley SA, Bassett AR, Wood MJA: Alpha-synuclein induces the unfolded protein response in Parkinson's disease SNCA triplication iPSC-derived neurons. Hum Mol Genet 2017, 26(22):4441-4450. PMC5886237
Howlett EH, Jensen N, Belmonte F, Zafar F, Hu X, Kluss J, Schule B, Kaufman BA, Greenamyre JT, Sanders LH: LRRK2 G2019S-induced mitochondrial DNA damage is LRRK2 kinase dependent and inhibition restores mtDNA integrity in Parkinson's disease. Hum Mol Genet 2017, 26(22):4340-4351. PMC5886254
Huang KL, Marcora E, Pimenova AA, Di Narzo AF, Kapoor M, Jin SC, Harari O, Bertelsen S, Fairfax BP, Czajkowski J et al: A common haplotype lowers PU.1 expression in myeloid cells and delays onset of Alzheimer's disease. Nat Neurosci 2017, 20(8):1052-1061. PMC5759334
Jansen IE, Ye H, Heetveld S, Lechler MC, Michels H, Seinstra RI, Lubbe SJ, Drouet V, Lesage S, Majounie E et al: Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing. Genome Biol 2017, 18(1):22. PMC5282828
Kambouris M, Thevenon J, Soldatos A, Cox A, Stephen J, Ben-Omran T, Al-Sarraj Y, Boulos H, Bone W, Mullikin JC et al: Biallelic SCN10A mutations in neuromuscular disease and epileptic encephalopathy. Ann Clin Transl Neurol 2017, 4(1):26-35. PMC5221474
Konrad C, Kawamata H, Bredvik KG, Arreguin AJ, Cajamarca SA, Hupf JC, Ravits JM, Miller TM, Maragakis NJ, Hales CM et al: Fibroblast bioenergetics to classify amyotrophic lateral sclerosis patients. Mol Neurodegener 2017, 12(1):76. PMC5655870
Lacaze P, Ryan J, Woods R, Winship I, McNeil J: Pathogenic variants in the healthy elderly: unique ethical and practical challenges. J Med Ethics 2017, 43(10):714-722. PMC5629947
Larsson SC, Scott RA, Traylor M, Langenberg CC, Hindy G, Melander O, Orho-Melander M, Seshadri S, Wareham NJ, Markus HS et al: Type 2 diabetes, glucose, insulin, BMI, and ischemic stroke subtypes: Mendelian randomization study. Neurology 2017, 89(5):454-460. PMC5539736
Lavado A, Guo X, Smith AS, Akanda N, Martin C, Cai Y, Elbrecht D, Tran M, Bryant JP, Colon A et al: Evaluation of Holistic Treatment for ALS Reveals Possible Mechanism and Therapeutic Potential. Int J Pharm Pharm Res 2017, 11(1):348-374. PMC6326589
Li R, Hao J, Fujiwara H, Xu M, Yang S, Dai S, Long Y, Swaroop M, Li C, Vu M et al: Analytical Characterization of Methyl-beta-Cyclodextrin for Pharmacological Activity to Reduce Lysosomal Cholesterol Accumulation in Niemann-Pick Disease Type C1 Cells. Assay Drug Dev Technol 2017, 15(4):154-166. PMC5510037
Limdi NA, Brown TM, Shendre A, Liu N, Hill CE, Beasley TM: Quality of anticoagulation control and hemorrhage risk among African American and European American warfarin users. Pharmacogenet Genomics 2017, 27(10):347-355. PMC5657532
Ludtmann MHR, Arber C, Bartolome F, de Vicente M, Preza E, Carro E, Houlden H, Gandhi S, Wray S, Abramov AY: Mutations in valosin-containing protein (VCP) decrease ADP/ATP translocation across the mitochondrial membrane and impair energy metabolism in human neurons. J Biol Chem 2017, 292(21):8907-8917. PMC5448124
Mackenzie IR, Nicholson AM, Sarkar M, Messing J, Purice MD, Pottier C, Annu K, Baker M, Perkerson RB, Kurti A et al: TIA1 Mutations in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Promote Phase Separation and Alter Stress Granule Dynamics. Neuron 2017, 95(4):808-816 e809. PMC5576574
Maiuri T, Mocle AJ, Hung CL, Xia J, van Roon-Mom WM, Truant R: Huntingtin is a scaffolding protein in the ATM oxidative DNA damage response complex. Hum Mol Genet 2017, 26(2):395-406.
Malloy KE, Li J, Choudhury GR, Torres A, Gupta S, Kantorak C, Goble T, Fox PT, Clarke GD, Daadi MM: Magnetic Resonance Imaging-Guided Delivery of Neural Stem Cells into the Basal Ganglia of Nonhuman Primates Reveals a Pulsatile Mode of Cell Dispersion. Stem Cells Transl Med 2017, 6(3):877-885. PMC5442780
Monteys AM, Ebanks SA, Keiser MS, Davidson BL: CRISPR/Cas9 Editing of the Mutant Huntingtin Allele In Vitro and In Vivo. Mol Ther 2017, 25(1):12-23. PMC5363210
Morgan AR, Touchard S, O'Hagan C, Sims R, Majounie E, Escott-Price V, Jones L, Williams J, Morgan BP: The Correlation between Inflammatory Biomarkers and Polygenic Risk Score in Alzheimer's Disease. J Alzheimers Dis 2017, 56(1):25-36.
Murphy NA, Arthur KC, Tienari PJ, Houlden H, Chio A, Traynor BJ: Age-related penetrance of the C9orf72 repeat expansion. Sci Rep 2017, 7(1):2116. PMC5437033
Oleksiewicz U, Gladych M, Raman AT, Heyn H, Mereu E, Chlebanowska P, Andrzejewska A, Sozanska B, Samant N, Fak K et al: TRIM28 and Interacting KRAB-ZNFs Control Self-Renewal of Human Pluripotent Stem Cells through Epigenetic Repression of Pro-differentiation Genes. Stem Cell Reports 2017, 9(6):2065-2080. PMC5785758
Patel R, Page S, Al-Ahmad AJ: Isogenic blood-brain barrier models based on patient-derived stem cells display inter-individual differences in cell maturation and functionality. J Neurochem 2017, 142(1):74-88.
Pepper JP, Wang TV, Hennes V, Sun SY, Ichida JK: Human Induced Pluripotent Stem Cell-Derived Motor Neuron Transplant for Neuromuscular Atrophy in a Mouse Model of Sciatic Nerve Injury. JAMA Facial Plast Surg 2017, 19(3):197-205. PMC5815137
Quinti L, Dayalan Naidu S, Trager U, Chen X, Kegel-Gleason K, Lleres D, Connolly C, Chopra V, Low C, Moniot S et al: KEAP1-modifying small molecule reveals muted NRF2 signaling responses in neural stem cells from Huntington's disease patients. Proc Natl Acad Sci U S A 2017, 114(23):E4676-E4685. PMC5468652
Rannikmae K, Sivakumaran V, Millar H, Malik R, Anderson CD, Chong M, Dave T, Falcone GJ, Fernandez-Cadenas I, Jimenez-Conde J et al: COL4A2 is associated with lacunar ischemic stroke and deep ICH: Meta-analyses among 21,500 cases and 40,600 controls. Neurology 2017, 89(17):1829-1839. PMC5664302
Romo L, Ashar-Patel A, Pfister E, Aronin N: Alterations in mRNA 3' UTR Isoform Abundance Accompany Gene Expression Changes in Human Huntington's Disease Brains. Cell Rep 2017, 20(13):3057-3070. PMC5625827
Ruiz-Martinez J, Azcona LJ, Bergareche A, Marti-Masso JF, Paisan-Ruiz C: Whole-exome sequencing associates novel CSMD1 gene mutations with familial Parkinson disease. Neurol Genet 2017, 3(5):e177. PMC5540655
Schwab AJ, Sison SL, Meade MR, Broniowska KA, Corbett JA, Ebert AD: Decreased Sirtuin Deacetylase Activity in LRRK2 G2019S iPSC-Derived Dopaminergic Neurons. Stem Cell Reports 2017, 9(6):1839-1852. PMC5785678
Sison SL, Patitucci TN, Seminary ER, Villalon E, Lorson CL, Ebert AD: Astrocyte-produced miR-146a as a mediator of motor neuron loss in spinal muscular atrophy. Hum Mol Genet 2017, 26(17):3409-3420.
Smith BN, Topp SD, Fallini C, Shibata H, Chen HJ, Troakes C, King A, Ticozzi N, Kenna KP, Soragia-Gkazi A et al: Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis. Sci Transl Med 2017, 9(388). PMC6599403
Son MY, Sim H, Son YS, Jung KB, Lee MO, Oh JH, Chung SK, Jung CR, Kim J: Distinctive genomic signature of neural and intestinal organoids from familial Parkinson's disease patient-derived induced pluripotent stem cells. Neuropathol Appl Neurobiol 2017, 43(7):584-603.
Szlachcic WJ, Wiatr K, Trzeciak M, Figlerowicz M, Figiel M: The Generation of Mouse and Human Huntington Disease iPS Cells Suitable for In vitro Studies on Huntingtin Function. Front Mol Neurosci 2017, 10:253. PMC5550714
Tagliafierro L, Glenn OC, Zamora ME, Beach TG, Woltjer RL, Lutz MW, Chiba-Falek O: Genetic analysis of alpha-synuclein 3' untranslated region and its corresponding microRNAs in relation to Parkinson's disease compared to dementia with Lewy bodies. Alzheimers Dement 2017, 13(11):1237-1250. PMC5647200
Takata K, Kozaki T, Lee CZW, Thion MS, Otsuka M, Lim S, Utami KH, Fidan K, Park DS, Malleret B et al: Induced-Pluripotent-Stem-Cell-Derived Primitive Macrophages Provide a Platform for Modeling Tissue-Resident Macrophage Differentiation and Function. Immunity 2017, 47(1):183-198 e186.
Teves JMY, Bhargava V, Kirwan KR, Corenblum MJ, Justiniano R, Wondrak GT, Anandhan A, Flores AJ, Schipper DA, Khalpey Z et al: Parkinson's Disease Skin Fibroblasts Display Signature Alterations in Growth, Redox Homeostasis, Mitochondrial Function, and Autophagy. Front Neurosci 2017, 11:737. PMC5770791
Tobochnik S, Fahlstrom R, Shain C, Winawer MR, Investigators E: Familial aggregation of focal seizure semiology in the Epilepsy Phenome/Genome Project. Neurology 2017, 89(1):22-28. PMC5496514
Traylor M, Malik R, Nalls MA, Cotlarciuc I, Radmanesh F, Thorleifsson G, Hanscombe KB, Langefeld C, Saleheen D, Rost NS et al: Genetic variation at 16q24.2 is associated with small vessel stroke. Ann Neurol 2017, 81(3):383-394. PMC5366092
Vasquez V, Mitra J, Hegde PM, Pandey A, Sengupta S, Mitra S, Rao KS, Hegde ML: Chromatin-Bound Oxidized alpha-Synuclein Causes Strand Breaks in Neuronal Genomes in in vitro Models of Parkinson's Disease. J Alzheimers Dis 2017, 60(s1):S133-S150. PMC6172953
Verma M, Callio J, Otero PA, Sekler I, Wills ZP, Chu CT: Mitochondrial Calcium Dysregulation Contributes to Dendrite Degeneration Mediated by PD/LBD-Associated LRRK2 Mutants. J Neurosci 2017, 37(46):11151-11165. PMC5688524
von Spiczak S, Helbig KL, Shinde DN, Huether R, Pendziwiat M, Lourenco C, Nunes ME, Sarco DP, Kaplan RA, Dlugos DJ et al: DNM1 encephalopathy: A new disease of vesicle fission. Neurology 2017, 89(4):385-394. PMC5574673
Wang L, Yi F, Fu L, Yang J, Wang S, Wang Z, Suzuki K, Sun L, Xu X, Yu Y et al: CRISPR/Cas9-mediated targeted gene correction in amyotrophic lateral sclerosis patient iPSCs. Protein Cell 2017, 8(5):365-378. PMC5413600
Xu X, Tay Y, Sim B, Yoon SI, Huang Y, Ooi J, Utami KH, Ziaei A, Ng B, Radulescu C et al: Reversal of Phenotypic Abnormalities by CRISPR/Cas9-Mediated Gene Correction in Huntington Disease Patient-Derived Induced Pluripotent Stem Cells. Stem Cell Reports 2017, 8(3):619-633. PMC5355646
Zhang M, Mu H, Shang Z, Kang K, Lv H, Duan L, Li J, Chen X, Teng Y, Jiang Y et al: Genome-wide pathway-based association analysis identifies risk pathways associated with Parkinson's disease. Neuroscience 2017, 340:398-410.
Zhong P, Hu Z, Jiang H, Yan Z, Feng J: Dopamine Induces Oscillatory Activities in Human Midbrain Neurons with Parkin Mutations. Cell Rep 2017, 19(5):1033-1044. PMC5492970
Borgs L, Peyre E, Alix P, Hanon K, Grobarczyk B, Godin JD, Purnelle A, Krusy N, Maquet P, Lefebvre P et al: Dopaminergic neurons differentiating from LRRK2 G2019S induced pluripotent stem cells show early neuritic branching defects. Sci Rep 2016, 6:33377. PMC5027571
Cheng YC, Stanne TM, Giese AK, Ho WK, Traylor M, Amouyel P, Holliday EG, Malik R, Xu H, Kittner SJ et al: Genome-Wide Association Analysis of Young-Onset Stroke Identifies a Locus on Chromosome 10q25 Near HABP2. Stroke 2016, 47(2):307-316. PMC4729659
Cho KJ, van der Hoeven D, Zhou Y, Maekawa M, Ma X, Chen W, Fairn GD, Hancock JF: Inhibition of Acid Sphingomyelinase Depletes Cellular Phosphatidylserine and Mislocalizes K-Ras from the Plasma Membrane. Mol Cell Biol 2016, 36(2):363-374. PMC4719297
Cleary EM, Pal S, Azam T, Moore DJ, Swingler R, Gorrie G, Stephenson L, Colville S, Chandran S, Porteous M et al: Improved PCR based methods for detecting C9orf72 hexanucleotide repeat expansions. Mol Cell Probes 2016, 30(4):218-224. PMC4978699
Dai S, Li R, Long Y, Titus S, Zhao J, Huang R, Xia M, Zheng W: One-Step Seeding of Neural Stem Cells with Vitronectin-Supplemented Medium for High-Throughput Screening Assays. J Biomol Screen 2016, 21(10):1112-1124. PMC5285267
DiChiara AS, Taylor RJ, Wong MY, Doan ND, Rosario AM, Shoulders MD: Mapping and Exploring the Collagen-I Proteostasis Network. ACS Chem Biol 2016, 11(5):1408-1421. PMC4910512
Epi KC: De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies. Am J Hum Genet 2016, 99(2):287-298. PMC4974067
Federoff M, Price TR, Sailer A, Scholz S, Hernandez D, Nicolas A, Singleton AB, Nalls M, Houlden H: Genome-wide estimate of the heritability of Multiple System Atrophy. Parkinsonism Relat Disord 2016, 22:35-41. PMC4695377
Ferraiuolo L, Meyer K, Sherwood TW, Vick J, Likhite S, Frakes A, Miranda CJ, Braun L, Heath PR, Pineda R et al: Oligodendrocytes contribute to motor neuron death in ALS via SOD1-dependent mechanism. Proc Natl Acad Sci U S A 2016, 113(42):E6496-E6505. PMC5081600
Golas MM, Sander B: Use of human stem cells in Huntington disease modeling and translational research. Exp Neurol 2016, 278:76-90.
Guerreiro R, Escott-Price V, Darwent L, Parkkinen L, Ansorge O, Hernandez DG, Nalls MA, Clark L, Honig L, Marder K et al: Genome-wide analysis of genetic correlation in dementia with Lewy bodies, Parkinson's and Alzheimer's diseases. Neurobiol Aging 2016, 38:214 e217-214 e210. PMC4759606
Guo X, Sun X, Hu D, Wang YJ, Fujioka H, Vyas R, Chakrapani S, Joshi AU, Luo Y, Mochly-Rosen D et al: VCP recruitment to mitochondria causes mitophagy impairment and neurodegeneration in models of Huntington's disease. Nat Commun 2016, 7:12646. PMC5007466 filed. The authors declare no conflict of interest.
He F, Jones JM, Figueroa-Romero C, Zhang D, Feldman EL, Goutman SA, Meisler MH, Callaghan BC, Todd PK: Screening for novel hexanucleotide repeat expansions at ALS- and FTD-associated loci. Neurol Genet 2016, 2(3):e71. PMC4865132
Heman-Ackah SM, Bassett AR, Wood MJ: Precision Modulation of Neurodegenerative Disease-Related Gene Expression in Human iPSC-Derived Neurons. Sci Rep 2016, 6:28420. PMC4920027
Hsieh CH, Shaltouki A, Gonzalez AE, Bettencourt da Cruz A, Burbulla LF, St Lawrence E, Schule B, Krainc D, Palmer TD, Wang X: Functional Impairment in Miro Degradation and Mitophagy Is a Shared Feature in Familial and Sporadic Parkinson's Disease. Cell Stem Cell 2016, 19(6):709-724. PMC5135570
Huh CJ, Zhang B, Victor MB, Dahiya S, Batista LF, Horvath S, Yoo AS: Maintenance of age in human neurons generated by microRNA-based neuronal conversion of fibroblasts. Elife 2016, 5. PMC5067114
Janve VS, Hernandez CC, Verdier KM, Hu N, Macdonald RL: Epileptic encephalopathy de novo GABRB mutations impair gamma-aminobutyric acid type A receptor function. Ann Neurol 2016, 79(5):806-825. PMC5014730
Jenkinson EM, Rodero MP, Kasher PR, Uggenti C, Oojageer A, Goosey LC, Rose Y, Kershaw CJ, Urquhart JE, Williams SG et al: Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts. Nat Genet 2016, 48(10):1185-1192. PMC5045717
Johnson EO, Hancock DB, Levy JL, Gaddis NC, Page GP, Glasheen C, Saccone NL, Bierut LJ, Kral AH: KAT2B polymorphism identified for drug abuse in African Americans with regulatory links to drug abuse pathways in human prefrontal cortex. Addict Biol 2016, 21(6):1217-1232. PMC4724343
Kang UJ, Goldman JG, Alcalay RN, Xie T, Tuite P, Henchcliffe C, Hogarth P, Amara AW, Frank S, Rudolph A et al: The BioFIND study: Characteristics of a clinically typical Parkinson's disease biomarker cohort. Mov Disord 2016, 31(6):924-932. PMC5021110
Kay C, Collins JA, Miedzybrodzka Z, Madore SJ, Gordon ES, Gerry N, Davidson M, Slama RA, Hayden MR: Huntington disease reduced penetrance alleles occur at high frequency in the general population. Neurology 2016, 87(3):282-288. PMC4955276
Kirkegaard T, Gray J, Priestman DA, Wallom KL, Atkins J, Olsen OD, Klein A, Drndarski S, Petersen NH, Ingemann L et al: Heat shock protein-based therapy as a potential candidate for treating the sphingolipidoses. Sci Transl Med 2016, 8(355):355ra118.
Lin L, Goke J, Cukuroglu E, Dranias MR, VanDongen AM, Stanton LW: Molecular Features Underlying Neurodegeneration Identified through In Vitro Modeling of Genetically Diverse Parkinson's Disease Patients. Cell Rep 2016, 15(11):2411-2426.
Liu ML, Zang T, Zhang CL: Direct Lineage Reprogramming Reveals Disease-Specific Phenotypes of Motor Neurons from Human ALS Patients. Cell Rep 2016, 14(1):115-128. PMC4706770
Long Y, Xu M, Li R, Dai S, Beers J, Chen G, Soheilian F, Baxa U, Wang M, Marugan JJ et al: Induced Pluripotent Stem Cells for Disease Modeling and Evaluation of Therapeutics for Niemann-Pick Disease Type A. Stem Cells Transl Med 2016, 5(12):1644-1655. PMC5189647
Malik R, Traylor M, Pulit SL, Bevan S, Hopewell JC, Holliday EG, Zhao W, Abrantes P, Amouyel P, Attia JR et al: Low-frequency and common genetic variation in ischemic stroke: The METASTROKE collaboration. Neurology 2016, 86(13):1217-1226. PMC4818561
Mazzulli JR, Zunke F, Isacson O, Studer L, Krainc D: alpha-Synuclein-induced lysosomal dysfunction occurs through disruptions in protein trafficking in human midbrain synucleinopathy models. Proc Natl Acad Sci U S A 2016, 113(7):1931-1936. PMC4763774
Mazzulli JR, Zunke F, Tsunemi T, Toker NJ, Jeon S, Burbulla LF, Patnaik S, Sidransky E, Marugan JJ, Sue CM et al: Activation of beta-Glucocerebrosidase Reduces Pathological alpha-Synuclein and Restores Lysosomal Function in Parkinson's Patient Midbrain Neurons. J Neurosci 2016, 36(29):7693-7706. PMC4951575
Mehta SH, Adler CH: Advances in Biomarker Research in Parkinson's Disease. Curr Neurol Neurosci Rep 2016, 16(1):7.
Momcilovic O, Sivapatham R, Oron TR, Meyer M, Mooney S, Rao MS, Zeng X: Derivation, Characterization, and Neural Differentiation of Integration-Free Induced Pluripotent Stem Cell Lines from Parkinson's Disease Patients Carrying SNCA, LRRK2, PARK2, and GBA Mutations. PLoS One 2016, 11(5):e0154890. PMC4871453
Mungenast AE, Siegert S, Tsai LH: Modeling Alzheimer's disease with human induced pluripotent stem (iPS) cells. Mol Cell Neurosci 2016, 73:13-31. PMC5930170
Narayan M, Seeley KW, Jinwal UK: Identification of Apo B48 and other novel biomarkers in amyotrophic lateral sclerosis patient fibroblasts. Biomark Med 2016, 10(5):453-462.
Network NSG, International Stroke Genetics C: Loci associated with ischaemic stroke and its subtypes (SiGN): a genome-wide association study. Lancet Neurol 2016, 15(2):174-184. PMC4912948
Noormohammadi A, Khodakarami A, Gutierrez-Garcia R, Lee HJ, Koyuncu S, Konig T, Schindler C, Saez I, Fatima A, Dieterich C et al: Somatic increase of CCT8 mimics proteostasis of human pluripotent stem cells and extends C. elegans lifespan. Nat Commun 2016, 7:13649. PMC5133698
Ofori E, Du G, Babcock D, Huang X, Vaillancourt DE: Parkinson's disease biomarkers program brain imaging repository. Neuroimage 2016, 124(Pt B):1120-1124. PMC4643422
Osman EY, Washington CW, 3rd, Kaifer KA, Mazzasette C, Patitucci TN, Florea KM, Simon ME, Ko CP, Ebert AD, Lorson CL: Optimization of Morpholino Antisense Oligonucleotides Targeting the Intronic Repressor Element1 in Spinal Muscular Atrophy. Mol Ther 2016, 24(9):1592-1601. PMC5113110
Paquet D, Kwart D, Chen A, Sproul A, Jacob S, Teo S, Olsen KM, Gregg A, Noggle S, Tessier-Lavigne M: Efficient introduction of specific homozygous and heterozygous mutations using CRISPR/Cas9. Nature 2016, 533(7601):125-129.
Patitucci TN, Ebert AD: SMN deficiency does not induce oxidative stress in SMA iPSC-derived astrocytes or motor neurons. Hum Mol Genet 2016, 25(3):514-523.
Pehlivan D, Beck CR, Okamoto Y, Harel T, Akdemir ZH, Jhangiani SN, Withers MA, Goksungur MT, Carvalho CM, Czesnik D et al: The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy. Genet Med 2016, 18(5):443-451. PMC5322766
Pryde KR, Smith HL, Chau KY, Schapira AH: PINK1 disables the anti-fission machinery to segregate damaged mitochondria for mitophagy. J Cell Biol 2016, 213(2):163-171. PMC5084273
Raja WK, Mungenast AE, Lin YT, Ko T, Abdurrob F, Seo J, Tsai LH: Self-Organizing 3D Human Neural Tissue Derived from Induced Pluripotent Stem Cells Recapitulate Alzheimer's Disease Phenotypes. PLoS One 2016, 11(9):e0161969. PMC5021368
Raza MH, Domingues CE, Webster R, Sainz E, Paris E, Rahn R, Gutierrez J, Chow HM, Mundorff J, Kang CS et al: Mucolipidosis types II and III and non-syndromic stuttering are associated with different variants in the same genes. Eur J Hum Genet 2016, 24(4):529-534. PMC4929873
Rittiner JE, Caffall ZF, Hernandez-Martinez R, Sanderson SM, Pearson JL, Tsukayama KK, Liu AY, Xiao C, Tracy S, Shipman MK et al: Functional Genomic Analyses of Mendelian and Sporadic Disease Identify Impaired eIF2alpha Signaling as a Generalizable Mechanism for Dystonia. Neuron 2016, 92(6):1238-1251. PMC5320521
Rosenthal LS, Drake D, Alcalay RN, Babcock D, Bowman FD, Chen-Plotkin A, Dawson TM, Dewey RB, Jr., German DC, Huang X et al: The NINDS Parkinson's disease biomarkers program. Mov Disord 2016, 31(6):915-923. PMC4824671
Rovozzo R, Korza G, Baker MW, Li M, Bhattacharyya A, Barbarese E, Carson JH: CGG Repeats in the 5'UTR of FMR1 RNA Regulate Translation of Other RNAs Localized in the Same RNA Granules. PLoS One 2016, 11(12):e0168204. PMC5179066
Rue L, Banez-Coronel M, Creus-Muncunill J, Giralt A, Alcala-Vida R, Mentxaka G, Kagerbauer B, Zomeno-Abellan MT, Aranda Z, Venturi V et al: Targeting CAG repeat RNAs reduces Huntington's disease phenotype independently of huntingtin levels. J Clin Invest 2016, 126(11):4319-4330. PMC5096913
Sailer A, Scholz SW, Nalls MA, Schulte C, Federoff M, Price TR, Lees A, Ross OA, Dickson DW, Mok K et al: A genome-wide association study in multiple system atrophy. Neurology 2016, 87(15):1591-1598. PMC5067544
Sepe S, Milanese C, Gabriels S, Derks KW, Payan-Gomez C, van IWF, Rijksen YM, Nigg AL, Moreno S, Cerri S et al: Inefficient DNA Repair Is an Aging-Related Modifier of Parkinson's Disease. Cell Rep 2016, 15(9):1866-1875. PMC4893155
Slaats GG, Isabella CR, Kroes HY, Dempsey JC, Gremmels H, Monroe GR, Phelps IG, Duran KJ, Adkins J, Kumar SA et al: MKS1 regulates ciliary INPP5E levels in Joubert syndrome. J Med Genet 2016, 53(1):62-72. PMC5060087
Smith GA, Jansson J, Rocha EM, Osborn T, Hallett PJ, Isacson O: Fibroblast Biomarkers of Sporadic Parkinson's Disease and LRRK2 Kinase Inhibition. Mol Neurobiol 2016, 53(8):5161-5177. PMC5012155
Tousley A, Kegel-Gleason KB: Induced Pluripotent Stem Cells in Huntington's Disease Research: Progress and Opportunity. J Huntingtons Dis 2016, 5(2):99-131. PMC4942721
Traylor M, Zhang CR, Adib-Samii P, Devan WJ, Parsons OE, Lanfranconi S, Gregory S, Cloonan L, Falcone GJ, Radmanesh F et al: Genome-wide meta-analysis of cerebral white matter hyperintensities in patients with stroke. Neurology 2016, 86(2):146-153. PMC4731688
Urbanek MO, Krzyzosiak WJ: RNA FISH for detecting expanded repeats in human diseases. Methods 2016, 98:115-123.
Vazquez-Arango P, Vowles J, Browne C, Hartfield E, Fernandes HJ, Mandefro B, Sareen D, James W, Wade-Martins R, Cowley SA et al: Variant U1 snRNAs are implicated in human pluripotent stem cell maintenance and neuromuscular disease. Nucleic Acids Res 2016, 44(22):10960-10973. PMC5159530
Wang W, Wang L, Lu J, Siedlak SL, Fujioka H, Liang J, Jiang S, Ma X, Jiang Z, da Rocha EL et al: The inhibition of TDP-43 mitochondrial localization blocks its neuronal toxicity. Nat Med 2016, 22(8):869-878. PMC4974139
Yealland G, Battaglia G, Bandmann O, Mortiboys H: Rescue of mitochondrial function in parkin-mutant fibroblasts using drug loaded PMPC-PDPA polymersomes and tubular polymersomes. Neurosci Lett 2016, 630:23-29. PMC5010038
Zheng X, Boyer L, Jin M, Kim Y, Fan W, Bardy C, Berggren T, Evans RM, Gage FH, Hunter T: Alleviation of neuronal energy deficiency by mTOR inhibition as a treatment for mitochondria-related neurodegeneration. Elife 2016, 5. PMC4846388
Zhou Q, Yen A, Rymarczyk G, Asai H, Trengrove C, Aziz N, Kirber MT, Mostoslavsky G, Ikezu T, Wolozin B et al: Impairment of PARK14-dependent Ca(2+) signalling is a novel determinant of Parkinson's disease. Nat Commun 2016, 7:10332. PMC4729940
Zuo L, Tan Y, Li CR, Wang Z, Wang K, Zhang X, Lin X, Chen X, Zhong C, Wang X et al: Associations of rare nicotinic cholinergic receptor gene variants to nicotine and alcohol dependence. Am J Med Genet B Neuropsychiatr Genet 2016, 171(8):1057-1071. PMC5587505
Baborie A, Griffiths TD, Jaros E, Perry R, McKeith IG, Burn DJ, Masuda-Suzukake M, Hasegawa M, Rollinson S, Pickering-Brown S et al: Accumulation of dipeptide repeat proteins predates that of TDP-43 in frontotemporal lobar degeneration associated with hexanucleotide repeat expansions in C9ORF72 gene. Neuropathol Appl Neurobiol 2015, 41(5):601-612. PMC4934135
Bachmann-Gagescu R, Dempsey JC, Phelps IG, O'Roak BJ, Knutzen DM, Rue TC, Ishak GE, Isabella CR, Gorden N, Adkins J et al: Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. J Med Genet 2015, 52(8):514-522. PMC5082428
Celestino-Soper PB, Doytchinova A, Steiner HA, Uradu A, Lynnes TC, Groh WJ, Miller JM, Lin H, Gao H, Wang Z et al: Evaluation of the Genetic Basis of Familial Aggregation of Pacemaker Implantation by a Large Next Generation Sequencing Panel. PLoS One 2015, 10(12):e0143588. PMC4670209
Chen H, Qian K, Chen W, Hu B, Blackbourn LWt, Du Z, Ma L, Liu H, Knobel KM, Ayala M et al: Human-derived neural progenitors functionally replace astrocytes in adult mice. J Clin Invest 2015, 125(3):1033-1042. PMC4362241
Desikan RS, Schork AJ, Wang Y, Witoelar A, Sharma M, McEvoy LK, Holland D, Brewer JB, Chen CH, Thompson WK et al: Genetic overlap between Alzheimer's disease and Parkinson's disease at the MAPT locus. Mol Psychiatry 2015, 20(12):1588-1595. PMC4539304
Du ZW, Chen H, Liu H, Lu J, Qian K, Huang CL, Zhong X, Fan F, Zhang SC: Generation and expansion of highly pure motor neuron progenitors from human pluripotent stem cells. Nat Commun 2015, 6:6626. PMC4375778
Ehrlich M, Hallmann AL, Reinhardt P, Arauzo-Bravo MJ, Korr S, Ropke A, Psathaki OE, Ehling P, Meuth SG, Oblak AL et al: Distinct Neurodegenerative Changes in an Induced Pluripotent Stem Cell Model of Frontotemporal Dementia Linked to Mutant TAU Protein. Stem Cell Reports 2015, 5(1):83-96. PMC4618448
Epilepsy Phenome/Genome Project Epi KC: Copy number variant analysis from exome data in 349 patients with epileptic encephalopathy. Ann Neurol 2015, 78(2):323-328. PMC4646089
Georges P, Boissart C, Poulet A, Peschanski M, Benchoua A: Protein Kinase-A Inhibition Is Sufficient to Support Human Neural Stem Cells Self-Renewal. Stem Cells 2015, 33(12):3666-3672.
Gray NE, Quinn JF: Alterations in mitochondrial number and function in Alzheimer's disease fibroblasts. Metab Brain Dis 2015, 30(5):1275-1278. PMC4800977
Griesi-Oliveira K, Acab A, Gupta AR, Sunaga DY, Chailangkarn T, Nicol X, Nunez Y, Walker MF, Murdoch JD, Sanders SJ et al: Modeling non-syndromic autism and the impact of TRPC6 disruption in human neurons. Mol Psychiatry 2015, 20(11):1350-1365. PMC4427554
Hancock DB, Levy JL, Gaddis NC, Glasheen C, Saccone NL, Page GP, Bierut LJ, Kral AH, Johnson EO: Replication of ZNF804A gene variant associations with risk of heroin addiction. Genes Brain Behav 2015, 14(8):635-640. PMC4715582
Hancock DB, Levy JL, Gaddis NC, Glasheen C, Saccone NL, Page GP, Hulse GK, Wildenauer D, Kelty EA, Schwab SG et al: Cis-Expression Quantitative Trait Loci Mapping Reveals Replicable Associations with Heroin Addiction in OPRM1. Biol Psychiatry 2015, 78(7):474-484. PMC4519434
Ho DH, Kim H, Kim J, Sim H, Ahn H, Kim J, Seo H, Chung KC, Park BJ, Son I et al: Leucine-Rich Repeat Kinase 2 (LRRK2) phosphorylates p53 and induces p21(WAF1/CIP1) expression. Mol Brain 2015, 8:54. PMC4575451
Hu Z, Pu J, Jiang H, Zhong P, Qiu J, Li F, Wang X, Zhang B, Yan Z, Feng J: Generation of Naivetropic Induced Pluripotent Stem Cells from Parkinson's Disease Patients for High-Efficiency Genetic Manipulation and Disease Modeling. Stem Cells Dev 2015, 24(21):2591-2604. PMC4620536
Iovino M, Agathou S, Gonzalez-Rueda A, Del Castillo Velasco-Herrera M, Borroni B, Alberici A, Lynch T, O'Dowd S, Geti I, Gaffney D et al: Early maturation and distinct tau pathology in induced pluripotent stem cell-derived neurons from patients with MAPT mutations. Brain 2015, 138(Pt 11):3345-3359. PMC4620511
Khan TK, Sen A, Hongpaisan J, Lim CS, Nelson TJ, Alkon DL: PKCepsilon deficits in Alzheimer's disease brains and skin fibroblasts. J Alzheimers Dis 2015, 43(2):491-509.
Kun-Rodrigues C, Ganos C, Guerreiro R, Schneider SA, Schulte C, Lesage S, Darwent L, Holmans P, Singleton A, International Parkinson's Disease Genomics C et al: A systematic screening to identify de novo mutations causing sporadic early-onset Parkinson's disease. Hum Mol Genet 2015, 24(23):6711-6720. PMC4634375
Lee YH, Song GG: Genome-wide pathway analysis in amyotrophic lateral sclerosis. Genet Mol Res 2015, 14(2):6429-6438.
Li QS, Cheng P, Favis R, Wickenden A, Romano G, Wang H: SCN9A Variants May be Implicated in Neuropathic Pain Associated With Diabetic Peripheral Neuropathy and Pain Severity. Clin J Pain 2015, 31(11):976-982. PMC4894774
Li Y, Balasubramanian U, Cohen D, Zhang PW, Mosmiller E, Sattler R, Maragakis NJ, Rothstein JD: A comprehensive library of familial human amyotrophic lateral sclerosis induced pluripotent stem cells. PLoS One 2015, 10(3):e0118266. PMC4356618
Limdi NA, Brown TM, Yan Q, Thigpen JL, Shendre A, Liu N, Hill CE, Arnett DK, Beasley TM: Race influences warfarin dose changes associated with genetic factors. Blood 2015, 126(4):539-545. PMC4513254
Limdi NA, Nolin TD, Booth SL, Centi A, Marques MB, Crowley MR, Allon M, Beasley TM: Influence of kidney function on risk of supratherapeutic international normalized ratio-related hemorrhage in warfarin users: a prospective cohort study. Am J Kidney Dis 2015, 65(5):701-709. PMC4414676
Liu H, Lu J, Chen H, Du Z, Li XJ, Zhang SC: Spinal muscular atrophy patient-derived motor neurons exhibit hyperexcitability. Sci Rep 2015, 5:12189. PMC4507262
Malik R, Freilinger T, Winsvold BS, Anttila V, Vander Heiden J, Traylor M, de Vries B, Holliday EG, Terwindt GM, Sturm J et al: Shared genetic basis for migraine and ischemic stroke: A genome-wide analysis of common variants. Neurology 2015, 84(21):2132-2145. PMC4451048
McGovern K, Karn CF, Fox K, Investigators E: Surpassing the Target: How a Recruitment Campaign Transformed the Participant Accrual Trajectory in the Epilepsy Phenome/Genome Project. Clin Transl Sci 2015, 8(5):518-525. PMC4626330
Murdoch JD, Gupta AR, Sanders SJ, Walker MF, Keaney J, Fernandez TV, Murtha MT, Anyanwu S, Ober GT, Raubeson MJ et al: No evidence for association of autism with rare heterozygous point mutations in Contactin-Associated Protein-Like 2 (CNTNAP2), or in Other Contactin-Associated Proteins or Contactins. PLoS Genet 2015, 11(1):e1004852. PMC4306541
Nalls MA, Bras J, Hernandez DG, Keller MF, Majounie E, Renton AE, Saad M, Jansen I, Guerreiro R, Lubbe S et al: NeuroX, a fast and efficient genotyping platform for investigation of neurodegenerative diseases. Neurobiol Aging 2015, 36(3):1605 e1607-1612. PMC4317375
Nalls MA, McLean CY, Rick J, Eberly S, Hutten SJ, Gwinn K, Sutherland M, Martinez M, Heutink P, Williams NM et al: Diagnosis of Parkinson's disease on the basis of clinical and genetic classification: a population-based modelling study. Lancet Neurol 2015, 14(10):1002-1009. PMC4575273
Ooi J, Hayden MR, Pouladi MA: Inhibition of Excessive Monoamine Oxidase A/B Activity Protects Against Stress-induced Neuronal Death in Huntington Disease. Mol Neurobiol 2015, 52(3):1850-1861. PMC4586002
Pawlikowska L, Nelson J, Guo DE, McCulloch CE, Lawton MT, Young WL, Kim H, Faughnan ME, Brain Vascular Malformation Consortium HHTIG: The ACVRL1 c.314-35A>G polymorphism is associated with organ vascular malformations in hereditary hemorrhagic telangiectasia patients with ENG mutations, but not in patients with ACVRL1 mutations. Am J Med Genet A 2015, 167(6):1262-1267. PMC4449292
Pu J, Frescas D, Zhang B, Feng J: Utilization of TALEN and CRISPR/Cas9 technologies for gene targeting and modification. Exp Biol Med (Maywood) 2015, 240(8):1065-1070. PMC4935289
Raza MH, Mattera R, Morell R, Sainz E, Rahn R, Gutierrez J, Paris E, Root J, Solomon B, Brewer C et al: Association between Rare Variants in AP4E1, a Component of Intracellular Trafficking, and Persistent Stuttering. Am J Hum Genet 2015, 97(5):715-725. PMC4667129
Ren Y, Jiang H, Hu Z, Fan K, Wang J, Janoschka S, Wang X, Ge S, Feng J: Parkin mutations reduce the complexity of neuronal processes in iPSC-derived human neurons. Stem Cells 2015, 33(1):68-78. PMC4429885
Richner M, Victor MB, Liu Y, Abernathy D, Yoo AS: MicroRNA-based conversion of human fibroblasts into striatal medium spiny neurons. Nat Protoc 2015, 10(10):1543-1555.
Rindt H, Feng Z, Mazzasette C, Glascock JJ, Valdivia D, Pyles N, Crawford TO, Swoboda KJ, Patitucci TN, Ebert AD et al: Astrocytes influence the severity of spinal muscular atrophy. Hum Mol Genet 2015, 24(14):4094-4102. PMC5007659
Ring KL, An MC, Zhang N, O'Brien RN, Ramos EM, Gao F, Atwood R, Bailus BJ, Melov S, Mooney SD et al: Genomic Analysis Reveals Disruption of Striatal Neuronal Development and Therapeutic Targets in Human Huntington's Disease Neural Stem Cells. Stem Cell Reports 2015, 5(6):1023-1038. PMC4682390
Russ J, Liu EY, Wu K, Neal D, Suh E, Irwin DJ, McMillan CT, Harms MB, Cairns NJ, Wood EM et al: Hypermethylation of repeat expanded C9orf72 is a clinical and molecular disease modifier. Acta Neuropathol 2015, 129(1):39-52. PMC4282973
Schwab AJ, Ebert AD: Neurite Aggregation and Calcium Dysfunction in iPSC-Derived Sensory Neurons with Parkinson's Disease-Related LRRK2 G2019S Mutation. Stem Cell Reports 2015, 5(6):1039-1052. PMC4682343
Shaltouki A, Sivapatham R, Pei Y, Gerencser AA, Momcilovic O, Rao MS, Zeng X: Mitochondrial alterations by PARKIN in dopaminergic neurons using PARK2 patient-specific and PARK2 knockout isogenic iPSC lines. Stem Cell Reports 2015, 4(5):847-859. PMC4437475
Shang H, Liu G, Jiang Y, Fu J, Zhang B, Song R, Wang W: Pathway analysis of two amyotrophic lateral sclerosis GWAS highlights shared genetic signals with Alzheimer's disease and Parkinson's disease. Mol Neurobiol 2015, 51(1):361-369.
Su YC, Guo X, Qi X: Threonine 56 phosphorylation of Bcl-2 is required for LRRK2 G2019S-induced mitochondrial depolarization and autophagy. Biochim Biophys Acta 2015, 1852(1):12-21. PMC4268371
Suh E, Lee EB, Neal D, Wood EM, Toledo JB, Rennert L, Irwin DJ, McMillan CT, Krock B, Elman LB et al: Semi-automated quantification of C9orf72 expansion size reveals inverse correlation between hexanucleotide repeat number and disease duration in frontotemporal degeneration. Acta Neuropathol 2015, 130(3):363-372. PMC4545720
Szlachcic WJ, Switonski PM, Krzyzosiak WJ, Figlerowicz M, Figiel M: Huntington disease iPSCs show early molecular changes in intracellular signaling, the expression of oxidative stress proteins and the p53 pathway. Dis Model Mech 2015, 8(9):1047-1057. PMC4582098
Takahashi M, Suzuki M, Fukuoka M, Fujikake N, Watanabe S, Murata M, Wada K, Nagai Y, Hohjoh H: Normalization of Overexpressed alpha-Synuclein Causing Parkinson's Disease By a Moderate Gene Silencing With RNA Interference. Mol Ther Nucleic Acids 2015, 4:e241.
Weihl CC, Baloh RH, Lee Y, Chou TF, Pittman SK, Lopate G, Allred P, Jockel-Balsarotti J, Pestronk A, Harms MB: Targeted sequencing and identification of genetic variants in sporadic inclusion body myositis. Neuromuscul Disord 2015, 25(4):289-296. PMC4372452
York AG, Williams KJ, Argus JP, Zhou QD, Brar G, Vergnes L, Gray EE, Zhen A, Wu NC, Yamada DH et al: Limiting Cholesterol Biosynthetic Flux Spontaneously Engages Type I IFN Signaling. Cell 2015, 163(7):1716-1729. PMC4783382
Zhao Z, Sagare AP, Ma Q, Halliday MR, Kong P, Kisler K, Winkler EA, Ramanathan A, Kanekiyo T, Bu G et al: Central role for PICALM in amyloid-beta blood-brain barrier transcytosis and clearance. Nat Neurosci 2015, 18(7):978-987. PMC4482781
Zuo L, Saba L, Lin X, Tan Y, Wang K, Krystal JH, Tabakoff B, Luo X: Significant association between rare IPO11-HTR1A variants and attention deficit hyperactivity disorder in Caucasians. Am J Med Genet B Neuropsychiatr Genet 2015, 168(7):544-556. PMC4851708
Zuo L, Wang T, Lin X, Wang J, Tan Y, Wang X, Yu X, Luo X: Sex difference of autosomal alleles in populations of European and African descent. Genes Genomics 2015, 37(12):1007-1016. PMC4684836
Alcalay RN, Caccappolo E, Mejia-Santana H, Tang MX, Rosado L, Orbe Reilly M, Ruiz D, Louis ED, Comella CL, Nance MA et al: Cognitive and motor function in long-duration PARKIN-associated Parkinson disease. JAMA Neurol 2014, 71(1):62-67. PMC3947132
Ay H, Arsava EM, Andsberg G, Benner T, Brown RD, Jr., Chapman SN, Cole JW, Delavaran H, Dichgans M, Engstrom G et al: Pathogenic ischemic stroke phenotypes in the NINDS-stroke genetics network. Stroke 2014, 45(12):3589-3596. PMC4286169
Bard J, Wall MD, Lazari O, Arjomand J, Munoz-Sanjuan I: Advances in huntington disease drug discovery: novel approaches to model disease phenotypes. J Biomol Screen 2014, 19(2):191-204.
Bellani S, Mescola A, Ronzitti G, Tsushima H, Tilve S, Canale C, Valtorta F, Chieregatti E: GRP78 clustering at the cell surface of neurons transduces the action of exogenous alpha-synuclein. Cell Death Differ 2014, 21(12):1971-1983. PMC4227148
Benitez BA, Jin SC, Guerreiro R, Graham R, Lord J, Harold D, Sims R, Lambert JC, Gibbs JR, Bras J et al: Missense variant in TREML2 protects against Alzheimer's disease. Neurobiol Aging 2014, 35(6):1510 e1519-1526. PMC3961557
Brandstaetter H, Kruppa AJ, Buss F: Huntingtin is required for ER-to-Golgi transport and for secretory vesicle fusion at the plasma membrane. Dis Model Mech 2014, 7(12):1335-1340. PMC4257002
Cady J, Koval ED, Benitez BA, Zaidman C, Jockel-Balsarotti J, Allred P, Baloh RH, Ravits J, Simpson E, Appel SH et al: TREM2 variant p.R47H as a risk factor for sporadic amyotrophic lateral sclerosis. JAMA Neurol 2014, 71(4):449-453. PMC4087113
Chen H, Qian K, Du Z, Cao J, Petersen A, Liu H, Blackbourn LWt, Huang CL, Errigo A, Yin Y et al: Modeling ALS with iPSCs reveals that mutant SOD1 misregulates neurofilament balance in motor neurons. Cell Stem Cell 2014, 14(6):796-809. PMC4230530
Choquet H, Pawlikowska L, Nelson J, McCulloch CE, Akers A, Baca B, Khan Y, Hart B, Morrison L, Kim H et al: Polymorphisms in inflammatory and immune response genes associated with cerebral cavernous malformation type 1 severity. Cerebrovasc Dis 2014, 38(6):433-440. PMC4297571
Cotlarciuc I, Malik R, Holliday EG, Ahmadi KR, Pare G, Psaty BM, Fornage M, Hasan N, Rinne PE, Ikram MA et al: Effect of genetic variants associated with plasma homocysteine levels on stroke risk. Stroke 2014, 45(7):1920-1924. PMC4083192
Couthouis J, Raphael AR, Daneshjou R, Gitler AD: Targeted exon capture and sequencing in sporadic amyotrophic lateral sclerosis. PLoS Genet 2014, 10(10):e1004704. PMC4191946
Dichgans M, Malik R, Konig IR, Rosand J, Clarke R, Gretarsdottir S, Thorleifsson G, Mitchell BD, Assimes TL, Levi C et al: Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants. Stroke 2014, 45(1):24-36. PMC4112102
Diekstra FP, Van Deerlin VM, van Swieten JC, Al-Chalabi A, Ludolph AC, Weishaupt JH, Hardiman O, Landers JE, Brown RH, Jr., van Es MA et al: C9orf72 and UNC13A are shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: a genome-wide meta-analysis. Ann Neurol 2014, 76(1):120-133. PMC4137231
Duan L, Bhattacharyya BJ, Belmadani A, Pan L, Miller RJ, Kessler JA: Stem cell derived basal forebrain cholinergic neurons from Alzheimer's disease patients are more susceptible to cell death. Mol Neurodegener 2014, 9:3. PMC3896712
Euro E-RESC, Epilepsy Phenome/Genome P, Epi KC: De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies. Am J Hum Genet 2014, 95(4):360-370. PMC4185114
Figley MD, Thomas A, Gitler AD: Evaluating noncoding nucleotide repeat expansions in amyotrophic lateral sclerosis. Neurobiol Aging 2014, 35(4):936 e931-934. PMC3880650
Gupta AR, Pirruccello M, Cheng F, Kang HJ, Fernandez TV, Baskin JM, Choi M, Liu L, Ercan-Sencicek AG, Murdoch JD et al: Rare deleterious mutations of the gene EFR3A in autism spectrum disorders. Mol Autism 2014, 5:31. PMC4032628
Gusareva ES, Carrasquillo MM, Bellenguez C, Cuyvers E, Colon S, Graff-Radford NR, Petersen RC, Dickson DW, Mahachie John JM, Bessonov K et al: Genome-wide association interaction analysis for Alzheimer's disease. Neurobiol Aging 2014, 35(11):2436-2443. PMC4370231
Haeusler AR, Donnelly CJ, Periz G, Simko EA, Shaw PG, Kim MS, Maragakis NJ, Troncoso JC, Pandey A, Sattler R et al: C9orf72 nucleotide repeat structures initiate molecular cascades of disease. Nature 2014, 507(7491):195-200. PMC4046618
Han TU, Park J, Domingues CF, Moretti-Ferreira D, Paris E, Sainz E, Gutierrez J, Drayna D: A study of the role of the FOXP2 and CNTNAP2 genes in persistent developmental stuttering. Neurobiol Dis 2014, 69:23-31. PMC4099264
Hill-Burns EM, Wissemann WT, Hamza TH, Factor SA, Zabetian CP, Payami H: Identification of a novel Parkinson's disease locus via stratified genome-wide association study. BMC Genomics 2014, 15:118. PMC3925254
Hottman DA, Chernick D, Cheng S, Wang Z, Li L: HDL and cognition in neurodegenerative disorders. Neurobiol Dis 2014, 72 Pt A:22-36. PMC4252583
Huang J, Huffman JE, Yamakuchi M, Trompet S, Asselbergs FW, Sabater-Lleal M, Tregouet DA, Chen WM, Smith NL, Kleber ME et al: Genome-wide association study for circulating tissue plasminogen activator levels and functional follow-up implicates endothelial STXBP5 and STX2. Arterioscler Thromb Vasc Biol 2014, 34(5):1093-1101. PMC4009733
Johnson JO, Glynn SM, Gibbs JR, Nalls MA, Sabatelli M, Restagno G, Drory VE, Chio A, Rogaeva E, Traynor BJ: Mutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosis. Brain 2014, 137(Pt 12):e311. PMC4240285
Johnson JO, Pioro EP, Boehringer A, Chia R, Feit H, Renton AE, Pliner HA, Abramzon Y, Marangi G, Winborn BJ et al: Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis. Nat Neurosci 2014, 17(5):664-666. PMC4000579
Kearney JA: Epi4K Phase I: Gene Discovery in Epileptic Encephalopathies by Exome Sequencing. Epilepsy Curr 2014, 14(4):208-210. PMC4120393
Keller MF, Ferrucci L, Singleton AB, Tienari PJ, Laaksovirta H, Restagno G, Chio A, Traynor BJ, Nalls MA: Genome-wide analysis of the heritability of amyotrophic lateral sclerosis. JAMA Neurol 2014, 71(9):1123-1134. PMC4566960
Kim EJ, Kwon JC, Park KH, Park KW, Lee JH, Choi SH, Jeong JH, Kim BC, Yoon SJ, Yoon YC et al: Clinical and genetic analysis of MAPT, GRN, and C9orf72 genes in Korean patients with frontotemporal dementia. Neurobiol Aging 2014, 35(5):1213 e1213-1217.
Lewis DV, Shinnar S, Hesdorffer DC, Bagiella E, Bello JA, Chan S, Xu Y, MacFall J, Gomes WA, Moshe SL et al: Hippocampal sclerosis after febrile status epilepticus: the FEBSTAT study. Ann Neurol 2014, 75(2):178-185. PMC3980500
Liu EY, Russ J, Wu K, Neal D, Suh E, McNally AG, Irwin DJ, Van Deerlin VM, Lee EB: C9orf72 hypermethylation protects against repeat expansion-associated pathology in ALS/FTD. Acta Neuropathol 2014, 128(4):525-541. PMC4161616
Liu G, Yao L, Liu J, Jiang Y, Ma G, Genetic, Environmental Risk for Alzheimer's disease C, Chen Z, Zhao B, Li K: Cardiovascular disease contributes to Alzheimer's disease: evidence from large-scale genome-wide association studies. Neurobiol Aging 2014, 35(4):786-792.
Lu HF, Chai C, Lim TC, Leong MF, Lim JK, Gao S, Lim KL, Wan AC: A defined xeno-free and feeder-free culture system for the derivation, expansion and direct differentiation of transgene-free patient-specific induced pluripotent stem cells. Biomaterials 2014, 35(9):2816-2826.
Malik R, Bevan S, Nalls MA, Holliday EG, Devan WJ, Cheng YC, Ibrahim-Verbaas CA, Verhaaren BF, Bis JC, Joon AY et al: Multilocus genetic risk score associates with ischemic stroke in case-control and prospective cohort studies. Stroke 2014, 45(2):394-402. PMC4006951
McClory H, Williams D, Sapp E, Gatune LW, Wang P, DiFiglia M, Li X: Glucose transporter 3 is a rab11-dependent trafficking cargo and its transport to the cell surface is reduced in neurons of CAG140 Huntington's disease mice. Acta Neuropathol Commun 2014, 2:179. PMC4297405
Mencacci NE, Isaias IU, Reich MM, Ganos C, Plagnol V, Polke JM, Bras J, Hersheson J, Stamelou M, Pittman AM et al: Parkinson's disease in GTP cyclohydrolase 1 mutation carriers. Brain 2014, 137(Pt 9):2480-2492. PMC4132650
Nalls MA, Pankratz N, Lill CM, Do CB, Hernandez DG, Saad M, DeStefano AL, Kara E, Bras J, Sharma M et al: Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease. Nat Genet 2014, 46(9):989-993. PMC4146673
Nalls MA, Saad M, Noyce AJ, Keller MF, Schrag A, Bestwick JP, Traynor BJ, Gibbs JR, Hernandez DG, Cookson MR et al: Genetic comorbidities in Parkinson's disease. Hum Mol Genet 2014, 23(3):831-841. PMC3888265
Renton AE, Chio A, Traynor BJ: State of play in amyotrophic lateral sclerosis genetics. Nat Neurosci 2014, 17(1):17-23. PMC4544832
Reynolds A, Doggett EA, Riddle SM, Lebakken CS, Nichols RJ: LRRK2 kinase activity and biology are not uniformly predicted by its autophosphorylation and cellular phosphorylation site status. Front Mol Neurosci 2014, 7:54. PMC4068021
Sagal J, Zhan X, Xu J, Tilghman J, Karuppagounder SS, Chen L, Dawson VL, Dawson TM, Laterra J, Ying M: Proneural transcription factor Atoh1 drives highly efficient differentiation of human pluripotent stem cells into dopaminergic neurons. Stem Cells Transl Med 2014, 3(8):888-898. PMC4116248
Sanders LH, Laganiere J, Cooper O, Mak SK, Vu BJ, Huang YA, Paschon DE, Vangipuram M, Sundararajan R, Urnov FD et al: LRRK2 mutations cause mitochondrial DNA damage in iPSC-derived neural cells from Parkinson's disease patients: reversal by gene correction. Neurobiol Dis 2014, 62:381-386. PMC3877733
Schwab AJ, Ebert AD: Sensory neurons do not induce motor neuron loss in a human stem cell model of spinal muscular atrophy. PLoS One 2014, 9(7):e103112. PMC4108398
Shannon B, Soto-Ortolaza A, Rayaprolu S, Cannon HD, Labbe C, Benitez BA, Choi J, Lynch T, Boczarska-Jedynak M, Opala G et al: Genetic variation of the retromer subunits VPS26A/B-VPS29 in Parkinson's disease. Neurobiol Aging 2014, 35(8):1958 e1951-1952. PMC4023811
Shendre A, Beasley TM, Brown TM, Hill CE, Arnett DK, Limdi NA: Influence of regular physical activity on warfarin dose and risk of hemorrhagic complications. Pharmacotherapy 2014, 34(6):545-554. PMC4109410
Skibinski G, Nakamura K, Cookson MR, Finkbeiner S: Mutant LRRK2 toxicity in neurons depends on LRRK2 levels and synuclein but not kinase activity or inclusion bodies. J Neurosci 2014, 34(2):418-433. PMC3870929
Soares FA, Sheldon M, Rao M, Mummery C, Vallier L: International coordination of large-scale human induced pluripotent stem cell initiatives: Wellcome Trust and ISSCR workshops white paper. Stem Cell Reports 2014, 3(6):931-939. PMC4263998
Srivastava AK: Clinical relevance of stem cell therapies in amyotrophic lateral sclerosis. Neurol India 2014, 62(3):239-248.
Traylor M, Makela KM, Kilarski LL, Holliday EG, Devan WJ, Nalls MA, Wiggins KL, Zhao W, Cheng YC, Achterberg S et al: A novel MMP12 locus is associated with large artery atherosclerotic stroke using a genome-wide age-at-onset informed approach. PLoS Genet 2014, 10(7):e1004469. PMC4117446
van Blitterswijk M, Mullen B, Heckman MG, Baker MC, DeJesus-Hernandez M, Brown PH, Murray ME, Hsiung GY, Stewart H, Karydas AM et al: Ataxin-2 as potential disease modifier in C9ORF72 expansion carriers. Neurobiol Aging 2014, 35(10):2421 e2413-2427. PMC4105839
van Blitterswijk M, Mullen B, Nicholson AM, Bieniek KF, Heckman MG, Baker MC, DeJesus-Hernandez M, Finch NA, Brown PH, Murray ME et al: TMEM106B protects C9ORF72 expansion carriers against frontotemporal dementia. Acta Neuropathol 2014, 127(3):397-406. PMC3944829
van Blitterswijk M, Mullen B, Wojtas A, Heckman MG, Diehl NN, Baker MC, DeJesus-Hernandez M, Brown PH, Murray ME, Hsiung GY et al: Genetic modifiers in carriers of repeat expansions in the C9ORF72 gene. Mol Neurodegener 2014, 9:38. PMC4190282
Vanoye CG, Gurnett CA, Holland KD, George AL, Jr., Kearney JA: Novel SCN3A variants associated with focal epilepsy in children. Neurobiol Dis 2014, 62:313-322. PMC3877720
Victor MB, Richner M, Hermanstyne TO, Ransdell JL, Sobieski C, Deng PY, Klyachko VA, Nerbonne JM, Yoo AS: Generation of human striatal neurons by microRNA-dependent direct conversion of fibroblasts. Neuron 2014, 84(2):311-323. PMC4223654
Wan JY, Edwards KL, Hutter CM, Mata IF, Samii A, Roberts JW, Agarwal P, Checkoway H, Farin FM, Yearout D et al: Association mapping of the PARK10 region for Parkinson's disease susceptibility genes. Parkinsonism Relat Disord 2014, 20(1):93-98. PMC3946853
Williams SR, Yang Q, Chen F, Liu X, Keene KL, Jacques P, Chen WM, Weinstein G, Hsu FC, Beiser A et al: Genome-wide meta-analysis of homocysteine and methionine metabolism identifies five one carbon metabolism loci and a novel association of ALDH1L1 with ischemic stroke. PLoS Genet 2014, 10(3):e1004214. PMC3961178
Woo D, Falcone GJ, Devan WJ, Brown WM, Biffi A, Howard TD, Anderson CD, Brouwers HB, Valant V, Battey TW et al: Meta-analysis of genome-wide association studies identifies 1q22 as a susceptibility locus for intracerebral hemorrhage. Am J Hum Genet 2014, 94(4):511-521. PMC3980413
Xu M, Liu K, Swaroop M, Sun W, Dehdashti SJ, McKew JC, Zheng W: A phenotypic compound screening assay for lysosomal storage diseases. J Biomol Screen 2014, 19(1):168-175. PMC4818652
Yager JR, Gasparovic C, Magnotta VA, Adams W, Fiedorowicz J, Paulsen J, Jorge R, Beglinger LJ: Preliminary study of the association of white-matter metabolite concentrations with disease severity in patients with Huntington's disease. J Neuropsychiatry Clin Neurosci 2014, 26(1):101-104.
Yu D, Swaroop M, Wang M, Baxa U, Yang R, Yan Y, Coksaygan T, DeTolla L, Marugan JJ, Austin CP et al: Niemann-Pick Disease Type C: Induced Pluripotent Stem Cell-Derived Neuronal Cells for Modeling Neural Disease and Evaluating Drug Efficacy. J Biomol Screen 2014, 19(8):1164-1173. PMC4529815
Yu L, Bennett JT, Wynn J, Carvill GL, Cheung YH, Shen Y, Mychaliska GB, Azarow KS, Crombleholme TM, Chung DH et al: Whole exome sequencing identifies de novo mutations in GATA6 associated with congenital diaphragmatic hernia. J Med Genet 2014, 51(3):197-202. PMC3955383
Zuo L, Wang K, Wang G, Pan X, Zhang X, Zhang H, Luo X: Common PTP4A1-PHF3-EYS variants are specific for alcohol dependence. Am J Addict 2014, 23(4):411-414. PMC4111256
Adib-Samii P, Rost N, Traylor M, Devan W, Biffi A, Lanfranconi S, Fitzpatrick K, Bevan S, Kanakis A, Valant V et al: 17q25 Locus is associated with white matter hyperintensity volume in ischemic stroke, but not with lacunar stroke status. Stroke 2013, 44(6):1609-1615. PMC3771337
Ahmeti KB, Ajroud-Driss S, Al-Chalabi A, Andersen PM, Armstrong J, Birve A, Blauw HM, Brown RH, Bruijn L, Chen W et al: Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1. Neurobiol Aging 2013, 34(1):357 e357-319. PMC3839234
Allen GF, Toth R, James J, Ganley IG: Loss of iron triggers PINK1/Parkin-independent mitophagy. EMBO Rep 2013, 14(12):1127-1135. PMC3981094
Anderson CD, Biffi A, Nalls MA, Devan WJ, Schwab K, Ayres AM, Valant V, Ross OA, Rost NS, Saxena R et al: Common variants within oxidative phosphorylation genes influence risk of ischemic stroke and intracerebral hemorrhage. Stroke 2013, 44(3):612-619. PMC3582722
Collaborative E, Abou-Khalil B, Alldredge B, Bautista J, Berkovic S, Bluvstein J, Boro A, Cascino G, Consalvo D, Cristofaro S et al: The epilepsy phenome/genome project. Clin Trials 2013, 10(4):568-586. PMC5951634
Dabell MP, Rosenfeld JA, Bader P, Escobar LF, El-Khechen D, Vallee SE, Dinulos MB, Curry C, Fisher J, Tervo R et al: Investigation of NRXN1 deletions: clinical and molecular characterization. Am J Med Genet A 2013, 161A(4):717-731.
Dombroski BA, Galasko DR, Mata IF, Zabetian CP, Craig UK, Garruto RM, Oyanagi K, Schellenberg GD: C9orf72 hexanucleotide repeat expansion and Guam amyotrophic lateral sclerosis-Parkinsonism-dementia complex. JAMA Neurol 2013, 70(6):742-745. PMC3771869
Ebert AD, Shelley BC, Hurley AM, Onorati M, Castiglioni V, Patitucci TN, Svendsen SP, Mattis VB, McGivern JV, Schwab AJ et al: EZ spheres: a stable and expandable culture system for the generation of pre-rosette multipotent stem cells from human ESCs and iPSCs. Stem Cell Res 2013, 10(3):417-427. PMC3786426
Epi KC, Epilepsy Phenome/Genome P, Allen AS, Berkovic SF, Cossette P, Delanty N, Dlugos D, Eichler EE, Epstein MP, Glauser T et al: De novo mutations in epileptic encephalopathies. Nature 2013, 501(7466):217-221. PMC3773011
Foroud T, Investigators FIAS: Whole exome sequencing of intracranial aneurysm. Stroke 2013, 44(6 Suppl 1):S26-28.
Guo X, Disatnik MH, Monbureau M, Shamloo M, Mochly-Rosen D, Qi X: Inhibition of mitochondrial fragmentation diminishes Huntington's disease-associated neurodegeneration. J Clin Invest 2013, 123(12):5371-5388. PMC3859413
Harms MB, Cady J, Zaidman C, Cooper P, Bali T, Allred P, Cruchaga C, Baughn M, Libby RT, Pestronk A et al: Lack of C9ORF72 coding mutations supports a gain of function for repeat expansions in amyotrophic lateral sclerosis. Neurobiol Aging 2013, 34(9):2234 e2213-2239. PMC3679344
Harms MB, Neumann D, Benitez BA, Cooper B, Carrell D, Racette BA, Perlmutter JS, Goate A, Cruchaga C: Parkinson disease is not associated with C9ORF72 repeat expansions. Neurobiol Aging 2013, 34(5):1519 e1511-1512. PMC3566343
Heckman MG, Soto-Ortolaza AI, Diehl NN, Rayaprolu S, Brott TG, Wszolek ZK, Meschia JF, Ross OA: Genetic variants associated with myocardial infarction in the PSMA6 gene and Chr9p21 are also associated with ischaemic stroke. Eur J Neurol 2013, 20(2):300-308. PMC3711397
Holmans P, Moskvina V, Jones L, Sharma M, International Parkinson's Disease Genomics C, Vedernikov A, Buchel F, Saad M, Bras JM, Bettella F et al: A pathway-based analysis provides additional support for an immune-related genetic susceptibility to Parkinson's disease. Hum Mol Genet 2013, 22(5):1039-1049. PMC3561909
Horstick EJ, Linsley JW, Dowling JJ, Hauser MA, McDonald KK, Ashley-Koch A, Saint-Amant L, Satish A, Cui WW, Zhou W et al: Stac3 is a component of the excitation-contraction coupling machinery and mutated in Native American myopathy. Nat Commun 2013, 4:1952. PMC4056023
Hudson G, Nalls M, Evans JR, Breen DP, Winder-Rhodes S, Morrison KE, Morris HR, Williams-Gray CH, Barker RA, Singleton AB et al: Two-stage association study and meta-analysis of mitochondrial DNA variants in Parkinson disease. Neurology 2013, 80(22):2042-2048. PMC3716399
Iakoubov L, Mossakowska M, Szwed M, Duan Z, Sesti F, Puzianowska-Kuznicka M: A common copy number variation (CNV) polymorphism in the CNTNAP4 gene: association with aging in females. PLoS One 2013, 8(11):e79790. PMC3819343
Jang JH, Kwon MJ, Choi WJ, Oh KW, Koh SH, Ki CS, Kim SH: Analysis of the C9orf72 hexanucleotide repeat expansion in Korean patients with familial and sporadic amyotrophic lateral sclerosis. Neurobiol Aging 2013, 34(4):1311 e1317-1319.
Karkheiran S, Krebs CE, Makarov V, Nilipour Y, Hubert B, Darvish H, Frucht S, Shahidi GA, Buxbaum JD, Paisan-Ruiz C: Identification of COL6A2 mutations in progressive myoclonus epilepsy syndrome. Hum Genet 2013, 132(3):275-283.
Kasperaviciute D, Catarino CB, Matarin M, Leu C, Novy J, Tostevin A, Leal B, Hessel EV, Hallmann K, Hildebrand MS et al: Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A. Brain 2013, 136(Pt 10):3140-3150. PMC3784283
Kaye JA, Finkbeiner S: Modeling Huntington's disease with induced pluripotent stem cells. Mol Cell Neurosci 2013, 56:50-64. PMC3791169
Khan TA, Shah T, Prieto D, Zhang W, Price J, Fowkes GR, Cooper J, Talmud PJ, Humphries SE, Sundstrom J et al: Apolipoprotein E genotype, cardiovascular biomarkers and risk of stroke: systematic review and meta-analysis of 14,015 stroke cases and pooled analysis of primary biomarker data from up to 60,883 individuals. Int J Epidemiol 2013, 42(2):475-492. PMC3619955
King G: Launch of a US$5 million Parkinson's Disease Biomarkers Program in the USA. Bioanalysis 2013, 5(5):527.
Klebe S, Golmard JL, Nalls MA, Saad M, Singleton AB, Bras JM, Hardy J, Simon-Sanchez J, Heutink P, Kuhlenbaumer G et al: The Val158Met COMT polymorphism is a modifier of the age at onset in Parkinson's disease with a sexual dimorphism. J Neurol Neurosurg Psychiatry 2013, 84(6):666-673. PMC3646288
Kodera H, Nakamura K, Osaka H, Maegaki Y, Haginoya K, Mizumoto S, Kato M, Okamoto N, Iai M, Kondo Y et al: De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathy. Hum Mutat 2013, 34(12):1708-1714.
Konno T, Shiga A, Tsujino A, Sugai A, Kato T, Kanai K, Yokoseki A, Eguchi H, Kuwabara S, Nishizawa M et al: Japanese amyotrophic lateral sclerosis patients with GGGGCC hexanucleotide repeat expansion in C9ORF72. J Neurol Neurosurg Psychiatry 2013, 84(4):398-401.
Krebs CE, Karkheiran S, Powell JC, Cao M, Makarov V, Darvish H, Di Paolo G, Walker RH, Shahidi GA, Buxbaum JD et al: The Sac1 domain of SYNJ1 identified mutated in a family with early-onset progressive Parkinsonism with generalized seizures. Hum Mutat 2013, 34(9):1200-1207. PMC3790461
Lagier-Tourenne C, Baughn M, Rigo F, Sun S, Liu P, Li HR, Jiang J, Watt AT, Chun S, Katz M et al: Targeted degradation of sense and antisense C9orf72 RNA foci as therapy for ALS and frontotemporal degeneration. Proc Natl Acad Sci U S A 2013, 110(47):E4530-4539. PMC3839752
Limdi MA, Crowley MR, Beasley TM, Limdi NA, Allon M: Influence of kidney function on risk of hemorrhage among patients taking warfarin: a cohort study. Am J Kidney Dis 2013, 61(2):354-357. PMC3654383
Liu ML, Zang T, Zou Y, Chang JC, Gibson JR, Huber KM, Zhang CL: Small molecules enable neurogenin 2 to efficiently convert human fibroblasts into cholinergic neurons. Nat Commun 2013, 4:2183. PMC3843951
Liu Y, Li X, Liu Z, Chen L, Ng MK: Construction and analysis of single nucleotide polymorphism-single nucleotide polymorphism interaction networks. IET Syst Biol 2013, 7(5):170-181. PMC8687305
Lu J, Liu H, Huang CT, Chen H, Du Z, Liu Y, Sherafat MA, Zhang SC: Generation of integration-free and region-specific neural progenitors from primate fibroblasts. Cell Rep 2013, 3(5):1580-1591. PMC3786191
Mann DM, Rollinson S, Robinson A, Bennion Callister J, Thompson JC, Snowden JS, Gendron T, Petrucelli L, Masuda-Suzukake M, Hasegawa M et al: Dipeptide repeat proteins are present in the p62 positive inclusions in patients with frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72. Acta Neuropathol Commun 2013, 1:68. PMC3893586
Meschia JF, Arnett DK, Ay H, Brown RD, Jr., Benavente OR, Cole JW, de Bakker PI, Dichgans M, Doheny KF, Fornage M et al: Stroke Genetics Network (SiGN) study: design and rationale for a genome-wide association study of ischemic stroke subtypes. Stroke 2013, 44(10):2694-2702. PMC4056331
Meschia JF, Tournier-Lasserve E: Advances in stroke: genetics 2012. Stroke 2013, 44(2):309-310.
Nag A, Bochukova EG, Kremeyer B, Campbell DD, Muller H, Valencia-Duarte AV, Cardona J, Rivas IC, Mesa SC, Cuartas M et al: CNV analysis in Tourette syndrome implicates large genomic rearrangements in COL8A1 and NRXN1. PLoS One 2013, 8(3):e59061. PMC3606459
Nesbitt G, McKenna K, Mays V, Carpenter A, Miller K, Williams M, Investigators E: The Epilepsy Phenome/Genome Project (EPGP) informatics platform. Int J Med Inform 2013, 82(4):248-259. PMC3655424
Novarino G, Baek ST, Gleeson JG: The sacred disease: the puzzling genetics of epileptic disorders. Neuron 2013, 80(1):9-11. PMC3984878
Nuytemans K, Bademci G, Kohli MM, Beecham GW, Wang L, Young JI, Nahab F, Martin ER, Gilbert JR, Benatar M et al: C9ORF72 intermediate repeat copies are a significant risk factor for Parkinson disease. Ann Hum Genet 2013, 77(5):351-363. PMC3815478
Poduri A, Heinzen EL, Chitsazzadeh V, Lasorsa FM, Elhosary PC, LaCoursiere CM, Martin E, Yuskaitis CJ, Hill RS, Atabay KD et al: SLC25A22 is a novel gene for migrating partial seizures in infancy. Ann Neurol 2013, 74(6):873-882. PMC4031329
Rayaprolu S, Mullen B, Baker M, Lynch T, Finger E, Seeley WW, Hatanpaa KJ, Lomen-Hoerth C, Kertesz A, Bigio EH et al: TREM2 in neurodegeneration: evidence for association of the p.R47H variant with frontotemporal dementia and Parkinson's disease. Mol Neurodegener 2013, 8:19. PMC3691612
Ross OA, Soto-Ortolaza AI, Heckman MG, Verbeeck C, Serie DJ, Rayaprolu S, Rich SS, Nalls MA, Singleton A, Guerreiro R et al: NOTCH3 variants and risk of ischemic stroke. PLoS One 2013, 8(9):e75035. PMC3781028
Scaramuzzino C, Monaghan J, Milioto C, Lanson NA, Jr., Maltare A, Aggarwal T, Casci I, Fackelmayer FO, Pennuto M, Pandey UB: Protein arginine methyltransferase 1 and 8 interact with FUS to modify its sub-cellular distribution and toxicity in vitro and in vivo. PLoS One 2013, 8(4):e61576. PMC3631215
Sherman AV, Gubitz AK, Al-Chalabi A, Bedlack R, Berry J, Conwit R, Harris BT, Horton DK, Kaufmann P, Leitner ML et al: Infrastructure resources for clinical research in amyotrophic lateral sclerosis. Amyotroph Lateral Scler Frontotemporal Degener 2013, 14 Suppl 1:53-61.
Siitonen A, Majounie E, Federoff M, Ding J, Majamaa K, Singleton AB: Mutations in EIF4G1 are not a common cause of Parkinson's disease. Eur J Neurol 2013, 20(4):e59.
Singleton AB, Farrer MJ, Bonifati V: The genetics of Parkinson's disease: progress and therapeutic implications. Mov Disord 2013, 28(1):14-23. PMC3578399
Su YC, Qi X: Inhibition of excessive mitochondrial fission reduced aberrant autophagy and neuronal damage caused by LRRK2 G2019S mutation. Hum Mol Genet 2013, 22(22):4545-4561.
Testa CM: Key issues in essential tremor genetics research: Where are we now and how can we move forward?Tremor Other Hyperkinet Mov (N Y) 2013, 3. PMC3582856
Thompson AJ, Scholz SW, Singleton AB, Hardwick A, McFarland NR, Okun MS: Variability in clinical phenotypes of heterozygous and homozygous cases of Parkin-related Parkinson's disease. Int J Neurosci 2013, 123(12):847-849. PMC4001762
Turner MR, Bowser R, Bruijn L, Dupuis L, Ludolph A, McGrath M, Manfredi G, Maragakis N, Miller RG, Pullman SL et al: Mechanisms, models and biomarkers in amyotrophic lateral sclerosis. Amyotroph Lateral Scler Frontotemporal Degener 2013, 14 Suppl 1:19-32. PMC4284067
van Blitterswijk M, Baker MC, DeJesus-Hernandez M, Ghidoni R, Benussi L, Finger E, Hsiung GY, Kelley BJ, Murray ME, Rutherford NJ et al: C9ORF72 repeat expansions in cases with previously identified pathogenic mutations. Neurology 2013, 81(15):1332-1341. PMC3806926
Vester A, Velez-Ruiz G, McLaughlin HM, Program NCS, Lupski JR, Talbot K, Vance JM, Zuchner S, Roda RH, Fischbeck KH et al: A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivo. Hum Mutat 2013, 34(1):191-199. PMC3535524
Williams FM, Carter AM, Hysi PG, Surdulescu G, Hodgkiss D, Soranzo N, Traylor M, Bevan S, Dichgans M, Rothwell PM et al: Ischemic stroke is associated with the ABO locus: the EuroCLOT study. Ann Neurol 2013, 73(1):16-31. PMC3582024
Winawer MR, Connors R, Investigators E: Evidence for a shared genetic susceptibility to migraine and epilepsy. Epilepsia 2013, 54(2):288-295. PMC3566298
Zuo L, Wang K, Zhang XY, Krystal JH, Li CS, Zhang F, Zhang H, Luo X: NKAIN1-SERINC2 is a functional, replicable and genome-wide significant risk gene region specific for alcohol dependence in subjects of European descent. Drug Alcohol Depend 2013, 129(3):254-264. PMC3628730
Zuo L, Wang K, Zhang XY, Pan X, Wang G, Tan Y, Zhong C, Krystal JH, State M, Zhang H et al: Association between common alcohol dehydrogenase gene (ADH) variants and schizophrenia and autism. Hum Genet 2013, 132(7):735-743. PMC3683370
Zuo L, Wang KS, Zhang XY, Li CS, Zhang F, Wang X, Chen W, Gao G, Zhang H, Krystal JH et al: Rare SERINC2 variants are specific for alcohol dependence in individuals of European descent. Pharmacogenet Genomics 2013, 23(8):395-402. PMC4287355
Zuo L, Zhang H, Malison RT, Li CS, Zhang XY, Wang F, Lu L, Lu L, Wang X, Krystal JH et al: Rare ADH variant constellations are specific for alcohol dependence. Alcohol Alcohol 2013, 48(1):9-14. PMC3523382
Abramzon Y, Johnson JO, Scholz SW, Taylor JP, Brunetti M, Calvo A, Mandrioli J, Benatar M, Mora G, Restagno G et al: Valosin-containing protein (VCP) mutations in sporadic amyotrophic lateral sclerosis. Neurobiol Aging 2012, 33(9):2231 e2231-2231 e2236. PMC3391327
Alcalay RN, Caccappolo E, Mejia-Santana H, Tang M, Rosado L, Orbe Reilly M, Ruiz D, Ross B, Verbitsky M, Kisselev S et al: Cognitive performance of GBA mutation carriers with early-onset PD: the CORE-PD study. Neurology 2012, 78(18):1434-1440. PMC3345785
Alcalay RN, Clark LN, Marder KS, Bradley WE: Lack of association between cancer history and PARKIN genotype: a family based study in PARKIN/Parkinson's families. Genes Chromosomes Cancer 2012, 51(12):1109-1113. PMC3465486
Cheng YC, Anderson CD, Bione S, Keene K, Maguire JM, Nalls M, Rasheed A, Zeginigg M, Attia J, Baker R et al: Are myocardial infarction--associated single-nucleotide polymorphisms associated with ischemic stroke?Stroke 2012, 43(4):980-986. PMC3622211
Consortium HDi: Induced pluripotent stem cells from patients with Huntington's disease show CAG-repeat-expansion-associated phenotypes. Cell Stem Cell 2012, 11(2):264-278. PMC3804072
Cooper O, Seo H, Andrabi S, Guardia-Laguarta C, Graziotto J, Sundberg M, McLean JR, Carrillo-Reid L, Xie Z, Osborn T et al: Pharmacological rescue of mitochondrial deficits in iPSC-derived neural cells from patients with familial Parkinson's disease. Sci Transl Med 2012, 4(141):141ra190. PMC3462009
Couthouis J, Hart MP, Erion R, King OD, Diaz Z, Nakaya T, Ibrahim F, Kim HJ, Mojsilovic-Petrovic J, Panossian S et al: Evaluating the role of the FUS/TLS-related gene EWSR1 in amyotrophic lateral sclerosis. Hum Mol Genet 2012, 21(13):2899-2911. PMC3373238
Dey R, Kemp K, Gray E, Rice C, Scolding N, Wilkins A: Human mesenchymal stem cells increase anti-oxidant defences in cells derived from patients with Friedreich's ataxia. Cerebellum 2012, 11(4):861-871.
Egan CA, Marakovitz SE, O'Rourke JA, Osiecki L, Illmann C, Barton L, McLaughlin E, Proujansky R, Royal J, Cowley H et al: Effectiveness of a web-based protocol for the screening and phenotyping of individuals with Tourette syndrome for genetic studies. Am J Med Genet B Neuropsychiatr Genet 2012, 159B(8):987-996. PMC3903004
Egawa N, Kitaoka S, Tsukita K, Naitoh M, Takahashi K, Yamamoto T, Adachi F, Kondo T, Okita K, Asaka I et al: Drug screening for ALS using patient-specific induced pluripotent stem cells. Sci Transl Med 2012, 4(145):145ra104.
Epi KC: Epi4K: gene discovery in 4,000 genomes. Epilepsia 2012, 53(8):1457-1467. PMC3418423
Federoff M, Jimenez-Rolando B, Nalls MA, Singleton AB: A large study reveals no association between APOE and Parkinson's disease. Neurobiol Dis 2012, 46(2):389-392. PMC3323723
Ferrari R, Mok K, Moreno JH, Cosentino S, Goldman J, Pietrini P, Mayeux R, Tierney MC, Kapogiannis D, Jicha GA et al: Screening for C9ORF72 repeat expansion in FTLD. Neurobiol Aging 2012, 33(8):1850 e1851-1811. PMC3743244
Ferrari R, Moreno JH, Minhajuddin AT, O'Bryant SE, Reisch JS, Barber RC, Momeni P: Implication of common and disease specific variants in CLU, CR1, and PICALM. Neurobiol Aging 2012, 33(8):1846 e1847-1818.
Foroud T, Koller DL, Lai D, Sauerbeck L, Anderson C, Ko N, Deka R, Mosley TH, Fornage M, Woo D et al: Genome-wide association study of intracranial aneurysms confirms role of Anril and SOX17 in disease risk. Stroke 2012, 43(11):2846-2852. PMC3752852
Gao J, Nalls MA, Shi M, Joubert BR, Hernandez DG, Huang X, Hollenbeck A, Singleton AB, Chen H: An exploratory analysis on gene-environment interactions for Parkinson disease. Neurobiol Aging 2012, 33(10):2528 e2521-2526. PMC3419385
Gerrish A, Russo G, Richards A, Moskvina V, Ivanov D, Harold D, Sims R, Abraham R, Hollingworth P, Chapman J et al: The role of variation at AbetaPP, PSEN1, PSEN2, and MAPT in late onset Alzheimer's disease. J Alzheimers Dis 2012, 28(2):377-387. PMC4118466
Gobel A, Macklin EA, Winkler S, Betensky RA, Klein C, Lohmann K, Simon DK: Genetic risk factors in Parkinson's disease: single gene effects and interactions of genotypes. J Neurol 2012, 259(11):2503-2505. PMC3670989
Grinnon ST, Miller K, Marler JR, Lu Y, Stout A, Odenkirchen J, Kunitz S: National Institute of Neurological Disorders and Stroke Common Data Element Project - approach and methods. Clin Trials 2012, 9(3):322-329. PMC3513359
Harms MB, Ori-McKenney KM, Scoto M, Tuck EP, Bell S, Ma D, Masi S, Allred P, Al-Lozi M, Reilly MM et al: Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy. Neurology 2012, 78(22):1714-1720. PMC3359582
Hart MP, Gitler AD: ALS-associated ataxin 2 polyQ expansions enhance stress-induced caspase 3 activation and increase TDP-43 pathological modifications. J Neurosci 2012, 32(27):9133-9142. PMC3418890
Heinzen EL, Depondt C, Cavalleri GL, Ruzzo EK, Walley NM, Need AC, Ge D, He M, Cirulli ET, Zhao Q et al: Exome sequencing followed by large-scale genotyping fails to identify single rare variants of large effect in idiopathic generalized epilepsy. Am J Hum Genet 2012, 91(2):293-302. PMC3415540
Hesdorffer DC, Shinnar S, Lewis DV, Moshe SL, Nordli DR, Jr., Pellock JM, MacFall J, Shinnar RC, Masur D, Frank LM et al: Design and phenomenology of the FEBSTAT study. Epilepsia 2012, 53(9):1471-1480. PMC3436982
Holliday EG, Maguire JM, Evans TJ, Koblar SA, Jannes J, Sturm JW, Hankey GJ, Baker R, Golledge J, Parsons MW et al: Common variants at 6p21.1 are associated with large artery atherosclerotic stroke. Nat Genet 2012, 44(10):1147-1151. PMC3651583
Huey ED, Ferrari R, Moreno JH, Jensen C, Morris CM, Potocnik F, Kalaria RN, Tierney M, Wassermann EM, Hardy J et al: FUS and TDP43 genetic variability in FTD and CBS. Neurobiol Aging 2012, 33(5):1016 e1019-1017. PMC4489700
International Stroke Genetics C, Wellcome Trust Case Control C, Bellenguez C, Bevan S, Gschwendtner A, Spencer CC, Burgess AI, Pirinen M, Jackson CA, Traylor M et al: Genome-wide association study identifies a variant in HDAC9 associated with large vessel ischemic stroke. Nat Genet 2012, 44(3):328-333. PMC3303115
Jiang H, Ren Y, Yuen EY, Zhong P, Ghaedi M, Hu Z, Azabdaftari G, Nakaso K, Yan Z, Feng J: Parkin controls dopamine utilization in human midbrain dopaminergic neurons derived from induced pluripotent stem cells. Nat Commun 2012, 3:668. PMC3498452
Karlsson R, Graae L, Lekman M, Wang D, Favis R, Axelsson T, Galter D, Belin AC, Paddock S: MAGI1 copy number variation in bipolar affective disorder and schizophrenia. Biol Psychiatry 2012, 71(10):922-930.
Keller MF, Saad M, Bras J, Bettella F, Nicolaou N, Simon-Sanchez J, Mittag F, Buchel F, Sharma M, Gibbs JR et al: Using genome-wide complex trait analysis to quantify 'missing heritability' in Parkinson's disease. Hum Mol Genet 2012, 21(22):4996-5009. PMC3576713
Kumar KR, Weissbach A, Heldmann M, Kasten M, Tunc S, Sue CM, Svetel M, Kostic VS, Segura-Aguilar J, Ramirez A et al: Frequency of the D620N mutation in VPS35 in Parkinson disease. Arch Neurol 2012, 69(10):1360-1364.
Lee Y: Systemic and Cell-Type Specific Profiling of Molecular Changes in Parkinson's Disease. Interdisciplinary Bio Central 2012, 4(6).
Long JD, Matson WR, Juhl AR, Leavitt BR, Paulsen JS, Investigators P-H, Coordinators of the Huntington Study G: 8OHdG as a marker for Huntington disease progression. Neurobiol Dis 2012, 46(3):625-634. PMC3784019
Mackey J, Brown RD, Jr., Moomaw CJ, Sauerbeck L, Hornung R, Gandhi D, Woo D, Kleindorfer D, Flaherty ML, Meissner I et al: Unruptured intracranial aneurysms in the Familial Intracranial Aneurysm and International Study of Unruptured Intracranial Aneurysms cohorts: differences in multiplicity and location. J Neurosurg 2012, 117(1):60-64. PMC3914137
Majounie E, Abramzon Y, Renton AE, Keller MF, Traynor BJ, Singleton AB: Large C9orf72 repeat expansions are not a common cause of Parkinson's disease. Neurobiol Aging 2012, 33(10):2527 e2521-2522. PMC4545506
Majounie E, Renton AE, Mok K, Dopper EG, Waite A, Rollinson S, Chio A, Restagno G, Nicolaou N, Simon-Sanchez J et al: Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study. Lancet Neurol 2012, 11(4):323-330. PMC3322422
Majounie E, Traynor BJ, Chio A, Restagno G, Mandrioli J, Benatar M, Taylor JP, Singleton AB: Mutational analysis of the VCP gene in Parkinson's disease. Neurobiol Aging 2012, 33(1):209 e201-202. PMC3221929
McLaughlin HM, Sakaguchi R, Giblin W, Program NCS, Wilson TE, Biesecker L, Lupski JR, Talbot K, Vance JM, Zuchner S et al: A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N). Hum Mutat 2012, 33(1):244-253. PMC3240693
Mittag F, Buchel F, Saad M, Jahn A, Schulte C, Bochdanovits Z, Simon-Sanchez J, Nalls MA, Keller M, Hernandez DG et al: Use of support vector machines for disease risk prediction in genome-wide association studies: concerns and opportunities. Hum Mutat 2012, 33(12):1708-1718. PMC5968822
Ott J, Liu Z, Shen Y: Challenging false discovery rate: a partition test based on p values in human case-control association studies. Hum Hered 2012, 74(1):45-50.
Pankratz N, Beecham GW, DeStefano AL, Dawson TM, Doheny KF, Factor SA, Hamza TH, Hung AY, Hyman BT, Ivinson AJ et al: Meta-analysis of Parkinson's disease: identification of a novel locus, RIT2. Ann Neurol 2012, 71(3):370-384. PMC3354734
Pu J, Jiang H, Zhang B, Feng J: Redefining Parkinson's disease research using induced pluripotent stem cells. Curr Neurol Neurosci Rep 2012, 12(4):392-398. PMC3398463
Rutherford NJ, DeJesus-Hernandez M, Baker MC, Kryston TB, Brown PE, Lomen-Hoerth C, Boylan K, Wszolek ZK, Rademakers R: C9ORF72 hexanucleotide repeat expansions in patients with ALS from the Coriell Cell Repository. Neurology 2012, 79(5):482-483. PMC3467648
Rutherford NJ, Finch NA, DeJesus-Hernandez M, Crook RJ, Lomen-Hoerth C, Wszolek ZK, Uitti RJ, Graff-Radford NR, Rademakers R: Pathogenicity of exonic indels in fused in sarcoma in amyotrophic lateral sclerosis. Neurobiol Aging 2012, 33(2):424 e423-424. PMC3130814
Rutherford NJ, Heckman MG, Dejesus-Hernandez M, Baker MC, Soto-Ortolaza AI, Rayaprolu S, Stewart H, Finger E, Volkening K, Seeley WW et al: Length of normal alleles of C9ORF72 GGGGCC repeat do not influence disease phenotype. Neurobiol Aging 2012, 33(12):2950 e2955-2957. PMC3617405
Sebastiani P, Solovieff N, Dewan AT, Walsh KM, Puca A, Hartley SW, Melista E, Andersen S, Dworkis DA, Wilk JB et al: Genetic signatures of exceptional longevity in humans. PLoS One 2012, 7(1):e29848. PMC3261167
Traylor M, Farrall M, Holliday EG, Sudlow C, Hopewell JC, Cheng YC, Fornage M, Ikram MA, Malik R, Bevan S et al: Genetic risk factors for ischaemic stroke and its subtypes (the METASTROKE collaboration): a meta-analysis of genome-wide association studies. Lancet Neurol 2012, 11(11):951-962. PMC3490334
Willer T, Lee H, Lommel M, Yoshida-Moriguchi T, de Bernabe DB, Venzke D, Cirak S, Schachter H, Vajsar J, Voit T et al: ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome. Nat Genet 2012, 44(5):575-580. PMC3371168
Wolf SM, Crock BN, Van Ness B, Lawrenz F, Kahn JP, Beskow LM, Cho MK, Christman MF, Green RC, Hall R et al: Managing incidental findings and research results in genomic research involving biobanks and archived data sets. Genet Med 2012, 14(4):361-384. PMC3597341
Wray S, Self M, Consortium NPsDi, Consortium NHsDi, Consortium NAi, Lewis PA, Taanman JW, Ryan NS, Mahoney CJ, Liang Y et al: Creation of an open-access, mutation-defined fibroblast resource for neurological disease research. PLoS One 2012, 7(8):e43099. PMC3428297
Wu CH, Fallini C, Ticozzi N, Keagle PJ, Sapp PC, Piotrowska K, Lowe P, Koppers M, McKenna-Yasek D, Baron DM et al: Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis. Nature 2012, 488(7412):499-503. PMC3575525
Xiao J, Uitti RJ, Zhao Y, Vemula SR, Perlmutter JS, Wszolek ZK, Maraganore DM, Auburger G, Leube B, Lehnhoff K et al: Mutations in CIZ1 cause adult onset primary cervical dystonia. Ann Neurol 2012, 71(4):458-469. PMC3334472
Xu M, Liu K, Swaroop M, Porter FD, Sidhu R, Firnkes S, Ory DS, Marugan JJ, Xiao J, Southall N et al: delta-Tocopherol reduces lipid accumulation in Niemann-Pick type C1 and Wolman cholesterol storage disorders. J Biol Chem 2012, 287(47):39349-39360. PMC3501083
Yagi T, Kosakai A, Ito D, Okada Y, Akamatsu W, Nihei Y, Nabetani A, Ishikawa F, Arai Y, Hirose N et al: Establishment of induced pluripotent stem cells from centenarians for neurodegenerative disease research. PLoS One 2012, 7(7):e41572. PMC3405135
Alcalay RN, Siderowf A, Ottman R, Caccappolo E, Mejia-Santana H, Tang MX, Rosado L, Louis E, Ruiz D, Waters C et al: Olfaction in Parkin heterozygotes and compound heterozygotes: the CORE-PD study. Neurology 2011, 76(4):319-326. PMC3034420
Baker M: Neurons from reprogrammed cells. Nature Methods 2011, 8(11):905-909.
Brooks JA, Houlden H, Melchers A, Islam AJ, Ding J, Li A, Paudel R, Revesz T, Holton JL, Wood N et al: Mutational analysis of parkin and PINK1 in multiple system atrophy. Neurobiol Aging 2011, 32(3):548 e545-547. PMC3934211
Cheng YC, O'Connell JR, Cole JW, Stine OC, Dueker N, McArdle PF, Sparks MJ, Shen J, Laurie CC, Nelson S et al: Genome-wide association analysis of ischemic stroke in young adults. G3 (Bethesda) 2011, 1(6):505-514. PMC3276159
Clark J, Reddy S, Zheng K, Betensky RA, Simon DK: Association of PGC-1alpha polymorphisms with age of onset and risk of Parkinson's disease. BMC Med Genet 2011, 12:69. PMC3112073
Cundiff PE, Anderson SA: Impact of induced pluripotent stem cells on the study of central nervous system disease. Curr Opin Genet Dev 2011, 21(3):354-361. PMC3932563
DeJesus-Hernandez M, Desaro P, Johnston A, Ross OA, Wszolek ZK, Ertekin-Taner N, Graff-Radford NR, Rademakers R, Boylan K: Novel p.Ile151Val mutation in VCP in a patient of African American descent with sporadic ALS. Neurology 2011, 77(11):1102-1103. PMC3174069
Devine MJ, Ryten M, Vodicka P, Thomson AJ, Burdon T, Houlden H, Cavaleri F, Nagano M, Drummond NJ, Taanman JW et al: Parkinson's disease induced pluripotent stem cells with triplication of the alpha-synuclein locus. Nat Commun 2011, 2:440. PMC3265381
Dranchak PK, Di Pietro E, Snowden A, Oesch N, Braverman NE, Steinberg SJ, Hacia JG: Nonsense suppressor therapies rescue peroxisome lipid metabolism and assembly in cells from patients with specific PEX gene mutations. J Cell Biochem 2011, 112(5):1250-1258. PMC3136445
Faucz FR, Horvath A, Rothenbuhler A, Almeida MQ, Libe R, Raffin-Sanson ML, Bertherat J, Carraro DM, Soares FA, Molina Gde C et al: Phosphodiesterase 11A (PDE11A) genetic variants may increase susceptibility to prostatic cancer. J Clin Endocrinol Metab 2011, 96(1):E135-140. PMC3038491
Girirajan S, Brkanac Z, Coe BP, Baker C, Vives L, Vu TH, Shafer N, Bernier R, Ferrero GB, Silengo M et al: Relative burden of large CNVs on a range of neurodevelopmental phenotypes. PLoS Genet 2011, 7(11):e1002334. PMC3213131
Jorge BS, Campbell CM, Miller AR, Rutter ED, Gurnett CA, Vanoye CG, George AL, Jr., Kearney JA: Voltage-gated potassium channel KCNV2 (Kv8.2) contributes to epilepsy susceptibility. Proc Natl Acad Sci U S A 2011, 108(13):5443-5448. PMC3069171
Karakoc E, Alkan C, O'Roak BJ, Dennis MY, Vives L, Mark K, Rieder MJ, Nickerson DA, Eichler EE: Detection of structural variants and indels within exome data. Nat Methods 2011, 9(2):176-178. PMC3269549
Kemp K, Mallam E, Hares K, Witherick J, Scolding N, Wilkins A: Mesenchymal stem cells restore frataxin expression and increase hydrogen peroxide scavenging enzymes in Friedreich ataxia fibroblasts. PLoS One 2011, 6(10):e26098. PMC3189234
Kim KY, Stevens MV, Akter MH, Rusk SE, Huang RJ, Cohen A, Noguchi A, Springer D, Bocharov AV, Eggerman TL et al: Parkin is a lipid-responsive regulator of fat uptake in mice and mutant human cells. J Clin Invest 2011, 121(9):3701-3712. PMC3171101
Klassen T, Davis C, Goldman A, Burgess D, Chen T, Wheeler D, McPherson J, Bourquin T, Lewis L, Villasana D et al: Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy. Cell 2011, 145(7):1036-1048. PMC3131217
Lai SL, Abramzon Y, Schymick JC, Stephan DA, Dunckley T, Dillman A, Cookson M, Calvo A, Battistini S, Giannini F et al: FUS mutations in sporadic amyotrophic lateral sclerosis. Neurobiol Aging 2011, 32(3):550 e551-554. PMC2891336
Latourelle JC, Hendricks AE, Pankratz N, Wilk JB, Halter C, Nichols WC, Gusella JF, Destefano AL, Myers RH, Foroud T et al: Genomewide linkage study of modifiers of LRRK2-related Parkinson's disease. Mov Disord 2011, 26(11):2039-2044. PMC3346677
Lee T, Li YR, Chesi A, Hart MP, Ramos D, Jethava N, Hosangadi D, Epstein J, Hodges B, Bonini NM et al: Evaluating the prevalence of polyglutamine repeat expansions in amyotrophic lateral sclerosis. Neurology 2011, 76(24):2062-2065. PMC3111240
LeMaire SA, McDonald ML, Guo DC, Russell L, Miller CC, 3rd, Johnson RJ, Bekheirnia MR, Franco LM, Nguyen M, Pyeritz RE et al: Genome-wide association study identifies a susceptibility locus for thoracic aortic aneurysms and aortic dissections spanning FBN1 at 15q21.1. Nat Genet 2011, 43(10):996-1000. PMC3244938
Lisabeth LD, Morgenstern LB, Burke DT, Sun YV, Long JC: Ancestral heterogeneity in a biethnic stroke population. Ann Hum Genet 2011, 75(4):508-515. PMC3133673
Londin ER, Keller MA, D'Andrea MR, Delgrosso K, Ertel A, Surrey S, Fortina P: Whole-exome sequencing of DNA from peripheral blood mononuclear cells (PBMC) and EBV-transformed lymphocytes from the same donor. BMC Genomics 2011, 12:464. PMC3203102
Meschia JF, Nalls M, Matarin M, Brott TG, Brown RD, Jr., Hardy J, Kissela B, Rich SS, Singleton A, Hernandez D et al: Siblings with ischemic stroke study: results of a genome-wide scan for stroke loci. Stroke 2011, 42(10):2726-2732. PMC3251509
Meschia JF, Singleton A, Nalls MA, Rich SS, Sharma P, Ferrucci L, Matarin M, Hernandez DG, Pearce K, Brott TG et al: Genomic risk profiling of ischemic stroke: results of an international genome-wide association meta-analysis. PLoS One 2011, 6(9):e23161. PMC3177829
Mutez E, Lepretre F, Le Rhun E, Larvor L, Duflot A, Mouroux V, Kerckaert JP, Figeac M, Dujardin K, Destee A et al: SNCA locus duplication carriers: from genetics to Parkinson disease phenotypes. Hum Mutat 2011, 32(4):E2079-2090.
Nicholson G, Lenk GM, Reddel SW, Grant AE, Towne CF, Ferguson CJ, Simpson E, Scheuerle A, Yasick M, Hoffman S et al: Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P(2) phosphatase FIG4. Brain 2011, 134(Pt 7):1959-1971. PMC3122378
Pagani MR, Gonzalez LE, Uchitel OD: Autoimmunity in amyotrophic lateral sclerosis: past and present. Neurol Res Int 2011, 2011:497080. PMC3150148
Pankratz N, Dumitriu A, Hetrick KN, Sun M, Latourelle JC, Wilk JB, Halter C, Doheny KF, Gusella JF, Nichols WC et al: Copy number variation in familial Parkinson disease. PLoS One 2011, 6(8):e20988. PMC3149037
Ren Y, Jiang H, Ma D, Nakaso K, Feng J: Parkin degrades estrogen-related receptors to limit the expression of monoamine oxidases. Hum Mol Genet 2011, 20(6):1074-1083. PMC3043659
Renton AE, Majounie E, Waite A, Simon-Sanchez J, Rollinson S, Gibbs JR, Schymick JC, Laaksovirta H, van Swieten JC, Myllykangas L et al: A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron 2011, 72(2):257-268. PMC3200438
Ross OA, Rutherford NJ, Baker M, Soto-Ortolaza AI, Carrasquillo MM, DeJesus-Hernandez M, Adamson J, Li M, Volkening K, Finger E et al: Ataxin-2 repeat-length variation and neurodegeneration. Hum Mol Genet 2011, 20(16):3207-3212. PMC3140823
Sha Q, Zhang S: A test of Hardy-Weinberg equilibrium in structured populations. Genet Epidemiol 2011, 35(7):671-678.
Sha Q, Zhang Z, Zhang S: An improved score test for genetic association studies. Genet Epidemiol 2011, 35(5):350-359.
Shriner D, Vaughan LK: A unified framework for multi-locus association analysis of both common and rare variants. BMC Genomics 2011, 12:89. PMC3040731
Ticozzi N, LeClerc AL, van Blitterswijk M, Keagle P, McKenna-Yasek DM, Sapp PC, Silani V, Wills AM, Brown RH, Jr., Landers JE: Mutational analysis of TARDBP in neurodegenerative diseases. Neurobiol Aging 2011, 32(11):2096-2099. PMC2889148
van Es MA, Schelhaas HJ, van Vught PW, Ticozzi N, Andersen PM, Groen EJ, Schulte C, Blauw HM, Koppers M, Diekstra FP et al: Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis. Ann Neurol 2011, 70(6):964-973. PMC5560057
Xiao J, Zhao Y, Bastian RW, Perlmutter JS, Racette BA, Tabbal SD, Karimi M, Paniello RC, Wszolek ZK, Uitti RJ et al: The c.-237_236GA>TT THAP1 sequence variant does not increase risk for primary dystonia. Mov Disord 2011, 26(3):549-552. PMC3171986
Alcalay RN, Caccappolo E, Mejia-Santana H, Tang MX, Rosado L, Ross BM, Verbitsky M, Kisselev S, Louis ED, Comella C et al: Frequency of known mutations in early-onset Parkinson disease: implication for genetic counseling: the consortium on risk for early onset Parkinson disease study. Arch Neurol 2010, 67(9):1116-1122. PMC3329730
Allen AS, Satten GA: SNPs in CAST are associated with Parkinson disease: a confirmation study. Am J Med Genet B Neuropsychiatr Genet 2010, 153B(4):973-979. PMC3685412
Berger Z, Smith KA, Lavoie MJ: Membrane localization of LRRK2 is associated with increased formation of the highly active LRRK2 dimer and changes in its phosphorylation. Biochemistry 2010, 49(26):5511-5523. PMC2987719
Cao L, Zheng L, Tang WG, Xiao Q, Zhang T, Tang HD, He SB, Wang XJ, Ding JQ, Chen SD: Four novel mutations in the GCH1 gene of Chinese patients with dopa-responsive dystonia. Mov Disord 2010, 25(6):755-760.
Cooper O, Hargus G, Deleidi M, Blak A, Osborn T, Marlow E, Lee K, Levy A, Perez-Torres E, Yow A et al: Differentiation of human ES and Parkinson's disease iPS cells into ventral midbrain dopaminergic neurons requires a high activity form of SHH, FGF8a and specific regionalization by retinoic acid. Mol Cell Neurosci 2010, 45(3):258-266. PMC2945816
Cukier HN, Rabionet R, Konidari I, Rayner-Evans MY, Baltos ML, Wright HH, Abramson RK, Martin ER, Cuccaro ML, Pericak-Vance MA et al: Novel variants identified in methyl-CpG-binding domain genes in autistic individuals. Neurogenetics 2010, 11(3):291-303. PMC2941261
Duffy DL, Zhao ZZ, Sturm RA, Hayward NK, Martin NG, Montgomery GW: Multiple pigmentation gene polymorphisms account for a substantial proportion of risk of cutaneous malignant melanoma. J Invest Dermatol 2010, 130(2):520-528. PMC3672059
Ebentheuer J, Canelo M, Trautmann E, Trenkwalder C: Substantia nigra echogenicity in progressive supranuclear palsy. Mov Disord 2010, 25(6):773-777.
Edwards TL, Scott WK, Almonte C, Burt A, Powell EH, Beecham GW, Wang L, Zuchner S, Konidari I, Wang G et al: Genome-wide association study confirms SNPs in SNCA and the MAPT region as common risk factors for Parkinson disease. Ann Hum Genet 2010, 74(2):97-109. PMC2853717
Eerola J, Luoma PT, Peuralinna T, Scholz S, Paisan-Ruiz C, Suomalainen A, Singleton AB, Tienari PJ: POLG1 polyglutamine tract variants associated with Parkinson's disease. Neurosci Lett 2010, 477(1):1-5. PMC2905783
Elden AC, Kim HJ, Hart MP, Chen-Plotkin AS, Johnson BS, Fang X, Armakola M, Geser F, Greene R, Lu MM et al: Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS. Nature 2010, 466(7310):1069-1075. PMC2965417
Ercan-Sencicek AG, Stillman AA, Ghosh AK, Bilguvar K, O'Roak BJ, Mason CE, Abbott T, Gupta A, King RA, Pauls DL et al: L-histidine decarboxylase and Tourette's syndrome. N Engl J Med 2010, 362(20):1901-1908. PMC2894694
Fenelon G, Soulas T, Zenasni F, Cleret de Langavant L: The changing face of Parkinson's disease-associated psychosis: a cross-sectional study based on the new NINDS-NIMH criteria. Mov Disord 2010, 25(6):763-766. PMC2891710
Ferrari R, Kapogiannis D, Huey ED, Grafman J, Hardy J, Momeni P: Novel missense mutation in charged multivesicular body protein 2B in a patient with frontotemporal dementia. Alzheimer Dis Assoc Disord 2010, 24(4):397-401. PMC2974047
Greene CS, Sinnott-Armstrong NA, Himmelstein DS, Park PJ, Moore JH, Harris BT: Multifactor dimensionality reduction for graphics processing units enables genome-wide testing of epistasis in sporadic ALS. Bioinformatics 2010, 26(5):694-695. PMC2828117
Johnson JO, Mandrioli J, Benatar M, Abramzon Y, Van Deerlin VM, Trojanowski JQ, Gibbs JR, Brunetti M, Gronka S, Wuu J et al: Exome sequencing reveals VCP mutations as a cause of familial ALS. Neuron 2010, 68(5):857-864. PMC3032425
Kang C, Riazuddin S, Mundorff J, Krasnewich D, Friedman P, Mullikin JC, Drayna D: Mutations in the lysosomal enzyme-targeting pathway and persistent stuttering. N Engl J Med 2010, 362(8):677-685. PMC2936507
Kirkegaard T, Roth AG, Petersen NH, Mahalka AK, Olsen OD, Moilanen I, Zylicz A, Knudsen J, Sandhoff K, Arenz C et al: Hsp70 stabilizes lysosomes and reverts Niemann-Pick disease-associated lysosomal pathology. Nature 2010, 463(7280):549-553.
Limdi NA, Limdi MA, Cavallari L, Anderson AM, Crowley MR, Baird MF, Allon M, Beasley TM: Warfarin dosing in patients with impaired kidney function. Am J Kidney Dis 2010, 56(5):823-831. PMC2963672
Liu Y, Li M, Cheung YM, Sham PC, Ng MK: SKM-SNP: SNP markers detection method. J Biomed Inform 2010, 43(2):233-239.
Liu Y, Ng M: Shrunken methodology to genome-wide SNPs selection and construction of SNPs networks. BMC Syst Biol 2010, 4 Suppl 2:S5. PMC2982692
Londin ER, Keller MA, Maista C, Smith G, Mamounas LA, Zhang R, Madore SJ, Gwinn K, Corriveau RA: CoAIMs: a cost-effective panel of ancestry informative markers for determining continental origins. PLoS One 2010, 5(10):e13443. PMC2955551
Marder KS, Tang MX, Mejia-Santana H, Rosado L, Louis ED, Comella CL, Colcher A, Siderowf AD, Jennings D, Nance MA et al: Predictors of parkin mutations in early-onset Parkinson disease: the consortium on risk for early-onset Parkinson disease study. Arch Neurol 2010, 67(6):731-738. PMC3329757
McLaughlin HM, Sakaguchi R, Liu C, Igarashi T, Pehlivan D, Chu K, Iyer R, Cruz P, Cherukuri PF, Hansen NF et al: Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy. Am J Hum Genet 2010, 87(4):560-566. PMC2948804
Mefford HC, Muhle H, Ostertag P, von Spiczak S, Buysse K, Baker C, Franke A, Malafosse A, Genton P, Thomas P et al: Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies. PLoS Genet 2010, 6(5):e1000962. PMC2873910
Mortiboys H, Johansen KK, Aasly JO, Bandmann O: Mitochondrial impairment in patients with Parkinson disease with the G2019S mutation in LRRK2. Neurology 2010, 75(22):2017-2020.
Ross OA, Wilhoite GJ, Bacon JA, Soto-Ortolaza A, Kachergus J, Cobb SA, Puschmann A, Vilarino-Guell C, Farrer MJ, Graff-Radford N et al: LRRK2 variation and Parkinson's disease in African Americans. Mov Disord 2010, 25(12):1973-1976. PMC2939165
Ruiz-Marin M, Matilla-Garcia M, Cordoba JA, Susillo-Gonzalez JL, Romo-Astorga A, Gonzalez-Perez A, Ruiz A, Gayan J: An entropy test for single-locus genetic association analysis. BMC Genet 2010, 11:19. PMC2860340
Shen Y, Liu Z, Ott J: Systematic removal of outliers to reduce heterogeneity in case-control association studies. Hum Hered 2010, 70(4):227-231. PMC2975732
Shoulson I: Therapeutic directions for Parkinson's disease. Mov Disord 2010, 25 Suppl 1:S152-154. PMC3110693
Simon DK, Pankratz N, Kissell DK, Pauciulo MW, Halter CA, Rudolph A, Pfeiffer RF, Nichols WC, Foroud T, Parkinson Study Group PI: Maternal inheritance and mitochondrial DNA variants in familial Parkinson's disease. BMC Med Genet 2010, 11:53. PMC2858137
Sohn AS, Glockle N, Doetzer AD, Deuschl G, Felbor U, Topka HR, Schols L, Riess O, Bauer P, Muller U et al: Prevalence of THAP1 sequence variants in German patients with primary dystonia. Mov Disord 2010, 25(12):1982-1986.
Sundaram SK, Huq AM, Wilson BJ, Chugani HT: Tourette syndrome is associated with recurrent exonic copy number variants. Neurology 2010, 74(20):1583-1590. PMC2876824
Traynor BJ, Nalls M, Lai SL, Gibbs RJ, Schymick JC, Arepalli S, Hernandez D, van der Brug MP, Johnson JO, Dillman A et al: Kinesin-associated protein 3 (KIFAP3) has no effect on survival in a population-based cohort of ALS patients. Proc Natl Acad Sci U S A 2010, 107(27):12335-12338. PMC2901467
van de Leemput J, Wavrant-De Vrieze F, Rafferty I, Bras JM, Giunti P, Fisher EM, Hardy JA, Singleton AB, Houlden H: Sequencing analysis of the ITPR1 gene in a pure autosomal dominant spinocerebellar ataxia series. Mov Disord 2010, 25(6):771-773. PMC2864955
Van Deerlin VM, Sleiman PM, Martinez-Lage M, Chen-Plotkin A, Wang LS, Graff-Radford NR, Dickson DW, Rademakers R, Boeve BF, Grossman M et al: Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions. Nat Genet 2010, 42(3):234-239. PMC2828525
Wozniak MA, Kittner SJ, Tuhrim S, Cole JW, Stern B, Dobbins M, Grace ME, Nazarenko I, Dobrovolny R, McDade E et al: Frequency of unrecognized Fabry disease among young European-American and African-American men with first ischemic stroke. Stroke 2010, 41(1):78-81. PMC3564050
Xiao J, Zhao Y, Bastian RW, Perlmutter JS, Racette BA, Tabbal SD, Karimi M, Paniello RC, Wszolek ZK, Uitti RJ et al: Novel THAP1 sequence variants in primary dystonia. Neurology 2010, 74(3):229-238. PMC2809032
Zhang F, Seeman P, Liu P, Weterman MA, Gonzaga-Jauregui C, Towne CF, Batish SD, De Vriendt E, De Jonghe P, Rautenstrauss B et al: Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability. Am J Hum Genet 2010, 86(6):892-903. PMC3032071
Zhang Z, Niu A, Sha Q: Identification of interacting genes in genome-wide association studies using a model-based two-stage approach. Ann Hum Genet 2010, 74(5):406-415. PMC2923239
Alcalay RN, Mejia-Santana H, Tang MX, Rosado L, Verbitsky M, Kisselev S, Ross BM, Louis ED, Comella CL, Colcher A et al: Motor phenotype of LRRK2 G2019S carriers in early-onset Parkinson disease. Arch Neurol 2009, 66(12):1517-1522. PMC2837584
Bras J, Simon-Sanchez J, Federoff M, Morgadinho A, Januario C, Ribeiro M, Cunha L, Oliveira C, Singleton AB: Lack of replication of association between GIGYF2 variants and Parkinson disease. Hum Mol Genet 2009, 18(2):341-346. PMC2638775
Breitling LP, Steyerberg EW, Brenner H: The novel "genomic pathway approach" to complex diseases: a reason for (over-)optimism?Epidemiology 2009, 20(4):500-507.
Brooks J, Ding J, Simon-Sanchez J, Paisan-Ruiz C, Singleton AB, Scholz SW: Parkin and PINK1 mutations in early-onset Parkinson's disease: comprehensive screening in publicly available cases and control. J Med Genet 2009, 46(6):375-381. PMC4767009
Chio A, Schymick JC, Restagno G, Scholz SW, Lombardo F, Lai SL, Mora G, Fung HC, Britton A, Arepalli S et al: A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis. Hum Mol Genet 2009, 18(8):1524-1532. PMC2664150
Chow CY, Landers JE, Bergren SK, Sapp PC, Grant AE, Jones JM, Everett L, Lenk GM, McKenna-Yasek DM, Weisman LS et al: Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS. Am J Hum Genet 2009, 84(1):85-88. PMC2668033
Cronin S, Tomik B, Bradley DG, Slowik A, Hardiman O: Screening for replication of genome-wide SNP associations in sporadic ALS. Eur J Hum Genet 2009, 17(2):213-218. PMC2986065
Gonzalez-Perez A, Gayan J, Marin J, Galan JJ, Saez ME, Real LM, Antunez C, Ruiz A: Whole-genome conditional two-locus analysis identifies novel candidate genes for late-onset Parkinson's disease. Neurogenetics 2009, 10(3):173-181.
Gubitz AK, Gwinn K: Mining the genome for susceptibility to complex neurological disorders. Curr Mol Med 2009, 9(7):801-813.
Harold D, Abraham R, Hollingworth P, Sims R, Gerrish A, Hamshere ML, Pahwa JS, Moskvina V, Dowzell K, Williams A et al: Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease. Nat Genet 2009, 41(10):1088-1093. PMC2845877
Helbig I, Mefford HC, Sharp AJ, Guipponi M, Fichera M, Franke A, Muhle H, de Kovel C, Baker C, von Spiczak S et al: 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy. Nat Genet 2009, 41(2):160-162. PMC3026630
Itsara A, Cooper GM, Baker C, Girirajan S, Li J, Absher D, Krauss RM, Myers RM, Ridker PM, Chasman DI et al: Population analysis of large copy number variants and hotspots of human genetic disease. Am J Hum Genet 2009, 84(2):148-161. PMC2668011
Jensen ST, Soi S, Wang LS: A Bayesian approach to efficient differential allocation for resampling-based significance testing. BMC Bioinformatics 2009, 10:198. PMC2718927
Landers JE, Melki J, Meininger V, Glass JD, van den Berg LH, van Es MA, Sapp PC, van Vught PW, McKenna-Yasek DM, Blauw HM et al: Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis. Proc Natl Acad Sci U S A 2009, 106(22):9004-9009. PMC2683883
Latourelle JC, Pankratz N, Dumitriu A, Wilk JB, Goldwurm S, Pezzoli G, Mariani CB, DeStefano AL, Halter C, Gusella JF et al: Genomewide association study for onset age in Parkinson disease. BMC Med Genet 2009, 10:98. PMC2758866
Li X, Standley C, Sapp E, Valencia A, Qin ZH, Kegel KB, Yoder J, Comer-Tierney LA, Esteves M, Chase K et al: Mutant huntingtin impairs vesicle formation from recycling endosomes by interfering with Rab11 activity. Mol Cell Biol 2009, 29(22):6106-6116. PMC2772576
Limdi NA, Beasley TM, Baird MF, Goldstein JA, McGwin G, Arnett DK, Acton RT, Allon M: Kidney function influences warfarin responsiveness and hemorrhagic complications. J Am Soc Nephrol 2009, 20(4):912-921. PMC2663833
Limdi NA, Wiener H, Goldstein JA, Acton RT, Beasley TM: Influence of CYP2C9 and VKORC1 on warfarin response during initiation of therapy. Blood Cells Mol Dis 2009, 43(1):119-128. PMC2789741
Long Q, Zhang Q, Ott J: Detecting disease-associated genotype patterns. BMC Bioinformatics 2009, 10 Suppl 1:S75. PMC2648768
Matarin M, Brown WM, Dena H, Britton A, De Vrieze FW, Brott TG, Brown RD, Jr., Worrall BB, Case LD, Chanock SJ et al: Candidate gene polymorphisms for ischemic stroke. Stroke 2009, 40(11):3436-3442. PMC2784015
Meschia JF, Gwinn K: Genetics in clinical trials. Front Neurol Neurosci 2009, 25:152-157. PMC2789592
Nalls MA, Simon-Sanchez J, Gibbs JR, Paisan-Ruiz C, Bras JT, Tanaka T, Matarin M, Scholz S, Weitz C, Harris TB et al: Measures of autozygosity in decline: globalization, urbanization, and its implications for medical genetics. PLoS Genet 2009, 5(3):e1000415. PMC2652078
Neilson DE, Adams MD, Orr CM, Schelling DK, Eiben RM, Kerr DS, Anderson J, Bassuk AG, Bye AM, Childs AM et al: Infection-triggered familial or recurrent cases of acute necrotizing encephalopathy caused by mutations in a component of the nuclear pore, RANBP2. Am J Hum Genet 2009, 84(1):44-51. PMC2668029
Nichols WC, Kissell DK, Pankratz N, Pauciulo MW, Elsaesser VE, Clark KA, Halter CA, Rudolph A, Wojcieszek J, Pfeiffer RF et al: Variation in GIGYF2 is not associated with Parkinson disease. Neurology 2009, 72(22):1886-1892. PMC2690967
Nichols WC, Pankratz N, Marek DK, Pauciulo MW, Elsaesser VE, Halter CA, Rudolph A, Wojcieszek J, Pfeiffer RF, Foroud T et al: Mutations in GBA are associated with familial Parkinson disease susceptibility and age at onset. Neurology 2009, 72(4):310-316. PMC2677501
Paisan-Ruiz C, Washecka N, Nath P, Singleton AB, Corder EH: Parkinson's disease and low frequency alleles found together throughout LRRK2. Ann Hum Genet 2009, 73(Pt 4):391-403. PMC5217459
Pankratz N, Kissell DK, Pauciulo MW, Halter CA, Rudolph A, Pfeiffer RF, Marder KS, Foroud T, Nichols WC, Parkinson Study Group PI: Parkin dosage mutations have greater pathogenicity in familial PD than simple sequence mutations. Neurology 2009, 73(4):279-286. PMC2715211
Pankratz N, Nichols WC, Elsaesser VE, Pauciulo MW, Marek DK, Halter CA, Wojcieszek J, Rudolph A, Pfeiffer RF, Foroud T et al: Alpha-synuclein and familial Parkinson's disease. Mov Disord 2009, 24(8):1125-1131. PMC3397145
Pankratz N, Wilk JB, Latourelle JC, DeStefano AL, Halter C, Pugh EW, Doheny KF, Gusella JF, Nichols WC, Foroud T et al: Genomewide association study for susceptibility genes contributing to familial Parkinson disease. Hum Genet 2009, 124(6):593-605. PMC2627511
Ramoni RB, Himes BE, Sale MM, Furie KL, Ramoni MF: Predictive genomics of cardioembolic stroke. Stroke 2009, 40(3 Suppl):S67-70. PMC2752697
Ravina B, Tanner C, Dieuliis D, Eberly S, Flagg E, Galpern WR, Fahn S, Goetz CG, Grate S, Kurlan R et al: A longitudinal program for biomarker development in Parkinson's disease: a feasibility study. Mov Disord 2009, 24(14):2081-2090.
Ren Y, Jiang H, Yang F, Nakaso K, Feng J: Parkin protects dopaminergic neurons against microtubule-depolymerizing toxins by attenuating microtubule-associated protein kinase activation. J Biol Chem 2009, 284(6):4009-4017. PMC2635057
Sha Q, Zhang Z, Schymick JC, Traynor BJ, Zhang S: Genome-wide association reveals three SNPs associated with sporadic amyotrophic lateral sclerosis through a two-locus analysis. BMC Med Genet 2009, 10:86. PMC2752455
Sharkey LM, Jones JM, Hedera P, Meisler MH: Evaluation of SCN8A as a candidate gene for autosomal dominant essential tremor. Parkinsonism Relat Disord 2009, 15(4):321-323. PMC2877193
Simon-Sanchez J, Schulte C, Bras JM, Sharma M, Gibbs JR, Berg D, Paisan-Ruiz C, Lichtner P, Scholz SW, Hernandez DG et al: Genome-wide association study reveals genetic risk underlying Parkinson's disease. Nat Genet 2009, 41(12):1308-1312. PMC2787725
Tang W, Wu X, Jiang R, Li Y: Epistatic module detection for case-control studies: a Bayesian model with a Gibbs sampling strategy. PLoS Genet 2009, 5(5):e1000464. PMC2669883
Tzeng JY, Zhang D, Chang SM, Thomas DC, Davidian M: Gene-trait similarity regression for multimarker-based association analysis. Biometrics 2009, 65(3):822-832. PMC2748404
van Es MA, Veldink JH, Saris CG, Blauw HM, van Vught PW, Birve A, Lemmens R, Schelhaas HJ, Groen EJ, Huisman MH et al: Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis. Nat Genet 2009, 41(10):1083-1087.
Vilarino-Guell C, Wider C, Soto-Ortolaza AI, Cobb SA, Kachergus JM, Keeling BH, Dachsel JC, Hulihan MM, Dickson DW, Wszolek ZK et al: Characterization of DCTN1 genetic variability in neurodegeneration. Neurology 2009, 72(23):2024-2028. PMC2692178
Wills AM, Cronin S, Slowik A, Kasperaviciute D, Van Es MA, Morahan JM, Valdmanis PN, Meininger V, Melki J, Shaw CE et al: A large-scale international meta-analysis of paraoxonase gene polymorphisms in sporadic ALS. Neurology 2009, 73(1):16-24. PMC2707108
Camargos S, Scholz S, Simon-Sanchez J, Paisan-Ruiz C, Lewis P, Hernandez D, Ding J, Gibbs JR, Cookson MR, Bras J et al: DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA. Lancet Neurol 2008, 7(3):207-215.
Camargos ST, Cardoso F, Momeni P, Gianetti JG, Lees A, Hardy J, Singleton A: Novel GCH1 mutation in a Brazilian family with dopa-responsive dystonia. Mov Disord 2008, 23(2):299-302.
Chen DT, Case LD, Brott TG, Brown RD, Jr., Silliman SL, Meschia JF, Worrall BB, Investigators I: Impact of restricting enrollment in stroke genetics research to adults able to provide informed consent. Stroke 2008, 39(3):831-837. PMC2613846
Cronin S, Berger S, Ding J, Schymick JC, Washecka N, Hernandez DG, Greenway MJ, Bradley DG, Traynor BJ, Hardiman O: A genome-wide association study of sporadic ALS in a homogenous Irish population. Hum Mol Genet 2008, 17(5):768-774.
Foroud T, Sauerbeck L, Brown R, Anderson C, Woo D, Kleindorfer D, Flaherty ML, Deka R, Hornung R, Meissner I et al: Genome screen to detect linkage to intracranial aneurysm susceptibility genes: the Familial Intracranial Aneurysm (FIA) study. Stroke 2008, 39(5):1434-1440. PMC2435164
Gayan J, Gonzalez-Perez A, Bermudo F, Saez ME, Royo JL, Quintas A, Galan JJ, Moron FJ, Ramirez-Lorca R, Real LM et al: A method for detecting epistasis in genome-wide studies using case-control multi-locus association analysis. BMC Genomics 2008, 9:360. PMC2533022
Guerreiro RJ, Schymick JC, Crews C, Singleton A, Hardy J, Traynor BJ: TDP-43 is not a common cause of sporadic amyotrophic lateral sclerosis. PLoS One 2008, 3(6):e2450. PMC2408729
Holland KD, Kearney JA, Glauser TA, Buck G, Keddache M, Blankston JR, Glaaser IW, Kass RS, Meisler MH: Mutation of sodium channel SCN3A in a patient with cryptogenic pediatric partial epilepsy. Neurosci Lett 2008, 433(1):65-70. PMC2423278
Khatkar MS, Nicholas FW, Collins AR, Zenger KR, Cavanagh JA, Barris W, Schnabel RD, Taylor JF, Raadsma HW: Extent of genome-wide linkage disequilibrium in Australian Holstein-Friesian cattle based on a high-density SNP panel. BMC Genomics 2008, 9:187. PMC2386485
Knight MA, Hernandez D, Diede SJ, Dauwerse HG, Rafferty I, van de Leemput J, Forrest SM, Gardner RJ, Storey E, van Ommen GJ et al: A duplication at chromosome 11q12.2-11q12.3 is associated with spinocerebellar ataxia type 20. Hum Mol Genet 2008, 17(24):3847-3853. PMC2588641
Kuhnlein P, Sperfeld AD, Vanmassenhove B, Van Deerlin V, Lee VM, Trojanowski JQ, Kretzschmar HA, Ludolph AC, Neumann M: Two German kindreds with familial amyotrophic lateral sclerosis due to TARDBP mutations. Arch Neurol 2008, 65(9):1185-1189. PMC2742976
Landers JE, Leclerc AL, Shi L, Virkud A, Cho T, Maxwell MM, Henry AF, Polak M, Glass JD, Kwiatkowski TJ et al: New VAPB deletion variant and exclusion of VAPB mutations in familial ALS. Neurology 2008, 70(14):1179-1185.
Landers JE, Shi L, Cho TJ, Glass JD, Shaw CE, Leigh PN, Diekstra F, Polak M, Rodriguez-Leyva I, Niemann S et al: A common haplotype within the PON1 promoter region is associated with sporadic ALS. Amyotroph Lateral Scler 2008, 9(5):306-314. PMC2739087
Lesnick TG, Sorenson EJ, Ahlskog JE, Henley JR, Shehadeh L, Papapetropoulos S, Maraganore DM: Beyond Parkinson disease: amyotrophic lateral sclerosis and the axon guidance pathway. PLoS One 2008, 3(1):e1449. PMC2175528
Li Y, Grupe A, Rowland C, Holmans P, Segurado R, Abraham R, Jones L, Catanese J, Ross D, Mayo K et al: Evidence that common variation in NEDD9 is associated with susceptibility to late-onset Alzheimer's and Parkinson's disease. Hum Mol Genet 2008, 17(5):759-767.
Li Y, Rowland C, Xiromerisiou G, Lagier RJ, Schrodi SJ, Dradiotis E, Ross D, Bui N, Catanese J, Aggelakis K et al: Neither replication nor simulation supports a role for the axon guidance pathway in the genetics of Parkinson's disease. PLoS One 2008, 3(7):e2707. PMC2442653
Limdi NA, Arnett DK, Goldstein JA, Beasley TM, McGwin G, Adler BK, Acton RT: Influence of CYP2C9 and VKORC1 on warfarin dose, anticoagulation attainment and maintenance among European-Americans and African-Americans. Pharmacogenomics 2008, 9(5):511-526. PMC2757655
Limdi NA, McGwin G, Goldstein JA, Beasley TM, Arnett DK, Adler BK, Baird MF, Acton RT: Influence of CYP2C9 and VKORC1 1173C/T genotype on the risk of hemorrhagic complications in African-American and European-American patients on warfarin. Clin Pharmacol Ther 2008, 83(2):312-321. PMC2683398
Macgregor S, Zhao ZZ, Henders A, Nicholas MG, Montgomery GW, Visscher PM: Highly cost-efficient genome-wide association studies using DNA pools and dense SNP arrays. Nucleic Acids Res 2008, 36(6):e35. PMC2346606
Matarin M, Brown WM, Hardy JA, Rich SS, Singleton AB, Brown RD, Jr., Brott TG, Worrall BB, Meschia JF, Group SS et al: Association of integrin alpha2 gene variants with ischemic stroke. J Cereb Blood Flow Metab 2008, 28(1):81-89. PMC2629802
Matarin M, Brown WM, Singleton A, Hardy JA, Meschia JF, investigators I: Whole genome analyses suggest ischemic stroke and heart disease share an association with polymorphisms on chromosome 9p21. Stroke 2008, 39(5):1586-1589. PMC3932672
Matarin M, Simon-Sanchez J, Fung HC, Scholz S, Gibbs JR, Hernandez DG, Crews C, Britton A, De Vrieze FW, Brott TG et al: Structural genomic variation in ischemic stroke. Neurogenetics 2008, 9(2):101-108. PMC2730937
Mefford HC, Sharp AJ, Baker C, Itsara A, Jiang Z, Buysse K, Huang S, Maloney VK, Crolla JA, Baralle D et al: Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J Med 2008, 359(16):1685-1699. PMC2703742
O'Toole O, Traynor BJ, Brennan P, Sheehan C, Frost E, Corr B, Hardiman O: Epidemiology and clinical features of amyotrophic lateral sclerosis in Ireland between 1995 and 2004. J Neurol Neurosurg Psychiatry 2008, 79(1):30-32.
Paisan-Ruiz C, Nath P, Washecka N, Gibbs JR, Singleton AB: Comprehensive analysis of LRRK2 in publicly available Parkinson's disease cases and neurologically normal controls. Hum Mutat 2008, 29(4):485-490.
Paschou P, Drineas P, Lewis J, Nievergelt CM, Nickerson DA, Smith JD, Ridker PM, Chasman DI, Krauss RM, Ziv E: Tracing sub-structure in the European American population with PCA-informative markers. PLoS Genet 2008, 4(7):e1000114. PMC2537989
Price AL, Butler J, Patterson N, Capelli C, Pascali VL, Scarnicci F, Ruiz-Linares A, Groop L, Saetta AA, Korkolopoulou P et al: Discerning the ancestry of European Americans in genetic association studies. PLoS Genet 2008, 4(1):e236. PMC2211542
Rosner S, Giladi N, Orr-Urtreger A: Advances in the genetics of Parkinson's disease. Acta Pharmacol Sin 2008, 29(1):21-34.
Ross OA, Braithwaite AT, Skipper LM, Kachergus J, Hulihan MM, Middleton FA, Nishioka K, Fuchs J, Gasser T, Maraganore DM et al: Genomic investigation of alpha-synuclein multiplication and parkinsonism. Ann Neurol 2008, 63(6):743-750. PMC3850281
Ross OA, Heckman MG, Soto AI, Diehl NN, Haugarvoll K, Vilarino-Guell C, Aasly JO, Sando S, Gibson JM, Lynch T et al: Dopamine beta-hydroxylase -1021C>T association and Parkinson's disease. Parkinsonism Relat Disord 2008, 14(7):544-547. PMC2592561
Ross OA, Soto AI, Vilarino-Guell C, Heckman MG, Diehl NN, Hulihan MM, Aasly JO, Sando S, Gibson JM, Lynch T et al: Genetic variation of Omi/HtrA2 and Parkinson's disease. Parkinsonism Relat Disord 2008, 14(7):539-543. PMC2614082
Rutherford NJ, Zhang YJ, Baker M, Gass JM, Finch NA, Xu YF, Stewart H, Kelley BJ, Kuntz K, Crook RJ et al: Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosis. PLoS Genet 2008, 4(9):e1000193. PMC2527686
Sale H, Wang J, O'Hara TJ, Tester DJ, Phartiyal P, He JQ, Rudy Y, Ackerman MJ, Robertson GA: Physiological properties of hERG 1a/1b heteromeric currents and a hERG 1b-specific mutation associated with Long-QT syndrome. Circ Res 2008, 103(7):e81-95. PMC2761010
Shinnar S, Hesdorffer DC, Nordli DR, Jr., Pellock JM, O'Dell C, Lewis DV, Frank LM, Moshe SL, Epstein LG, Marmarou A et al: Phenomenology of prolonged febrile seizures: results of the FEBSTAT study. Neurology 2008, 71(3):170-176.
Simon-Sanchez J, Scholz S, Matarin Mdel M, Fung HC, Hernandez D, Gibbs JR, Britton A, Hardy J, Singleton A: Genomewide SNP assay reveals mutations underlying Parkinson disease. Hum Mutat 2008, 29(2):315-322.
Simon-Sanchez J, Singleton A: Genome-wide association studies in neurological disorders. Lancet Neurol 2008, 7(11):1067-1072. PMC2824165
Simon-Sanchez J, Singleton AB: Sequencing analysis of OMI/HTRA2 shows previously reported pathogenic mutations in neurologically normal controls. Hum Mol Genet 2008, 17(13):1988-1993. PMC2574854
van Es MA, van Vught PW, Blauw HM, Franke L, Saris CG, Van den Bosch L, de Jong SW, de Jong V, Baas F, van't Slot R et al: Genetic variation in DPP6 is associated with susceptibility to amyotrophic lateral sclerosis. Nat Genet 2008, 40(1):29-31.
Wang Y, Clark LN, Louis ED, Mejia-Santana H, Harris J, Cote LJ, Waters C, Andrews H, Ford B, Frucht S et al: Risk of Parkinson disease in carriers of parkin mutations: estimation using the kin-cohort method. Arch Neurol 2008, 65(4):467-474. PMC2836931
Wendland JR, Moya PR, Kruse MR, Ren-Patterson RF, Jensen CL, Timpano KR, Murphy DL: A novel, putative gain-of-function haplotype at SLC6A4 associates with obsessive-compulsive disorder. Hum Mol Genet 2008, 17(5):717-723.
Zhang Q, Wang S, Ott J: Combining identity by descent and association in genetic case-control studies. BMC Genet 2008, 9:42. PMC2483716
Zhang Z, Zhang S, Wong MY, Wareham NJ, Sha Q: An ensemble learning approach jointly modeling main and interaction effects in genetic association studies. Genet Epidemiol 2008, 32(4):285-300. PMC3572743
Atz ME, Rollins B, Vawter MP: NCAM1 association study of bipolar disorder and schizophrenia: polymorphisms and alternatively spliced isoforms lead to similarities and differences. Psychiatr Genet 2007, 17(2):55-67. PMC2077086
Curtis D: Allelic association studies of genome wide association data can reveal errors in marker position assignments. BMC Genet 2007, 8:30. PMC1899178
Dunckley T, Huentelman MJ, Craig DW, Pearson JV, Szelinger S, Joshipura K, Halperin RF, Stamper C, Jensen KR, Letizia D et al: Whole-genome analysis of sporadic amyotrophic lateral sclerosis. N Engl J Med 2007, 357(8):775-788.
Evangelou E, Maraganore DM, Ioannidis JP: Meta-analysis in genome-wide association datasets: strategies and application in Parkinson disease. PLoS One 2007, 2(2):e196. PMC1805816
Fuchs J, Nilsson C, Kachergus J, Munz M, Larsson EM, Schule B, Langston JW, Middleton FA, Ross OA, Hulihan M et al: Phenotypic variation in a large Swedish pedigree due to SNCA duplication and triplication. Neurology 2007, 68(12):916-922.
Gwinn K, Corriveau RA, Mitsumoto H, Bednarz K, Brown RH, Jr., Cudkowicz M, Gordon PH, Hardy J, Kasarskis EJ, Kaufmann P et al: Amyotrophic lateral sclerosis: an emerging era of collaborative gene discovery. PLoS One 2007, 2(12):e1254. PMC2100166
Johnson J, Paisan-Ruiz C, Lopez G, Crews C, Britton A, Malkani R, Evans EW, McInerney-Leo A, Jain S, Nussbaum RL et al: Comprehensive screening of a North American Parkinson's disease cohort for LRRK2 mutation. Neurodegener Dis 2007, 4(5):386-391.
Keller MA, Gwinn K, Nash J, Horsford J, Zhang R, Rich SS, Corriveau RA: Whole genome association studies of neuropsychiatric disease: An emerging era of collaborative genetic discovery. Neuropsychiatr Dis Treat 2007, 3(5):613-618. PMC2656297
Khachaturian ZS: A chapter in the development of Alzheimer's disease research: a case study of public policies on the development and funding of research programs. Alzheimers Dement 2007, 3(3):243-258.
Leslie-Mazwi TM, Brott TG, Brown RD, Jr., Worrall BB, Silliman SL, Case LD, Frankel MR, Rich SS, Meschia JF: Sex differences in stroke evaluations in the Ischemic Stroke Genetics Study. J Stroke Cerebrovasc Dis 2007, 16(5):187-193. PMC2613848
Lesnick TG, Papapetropoulos S, Mash DC, Ffrench-Mullen J, Shehadeh L, de Andrade M, Henley JR, Rocca WA, Ahlskog JE, Maraganore DM: A genomic pathway approach to a complex disease: axon guidance and Parkinson disease. PLoS Genet 2007, 3(6):e98. PMC1904362
Matarin M, Brown WM, Scholz S, Simon-Sanchez J, Fung HC, Hernandez D, Gibbs JR, De Vrieze FW, Crews C, Britton A et al: A genome-wide genotyping study in patients with ischaemic stroke: initial analysis and data release. Lancet Neurol 2007, 6(5):414-420. PMC2613843
Nichols WC, Marek DK, Pauciulo MW, Pankratz N, Halter CA, Rudolph A, Shults CW, Wojcieszek J, Foroud T, Parkinson Study Group PI: R1514Q substitution in Lrrk2 is not a pathogenic Parkinson's disease mutation. Mov Disord 2007, 22(2):254-257.
Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, Bender D, Maller J, Sklar P, de Bakker PI, Daly MJ et al: PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 2007, 81(3):559-575. PMC1950838
Rademakers R, Baker M, Gass J, Adamson J, Huey ED, Momeni P, Spina S, Coppola G, Karydas AM, Stewart H et al: Phenotypic variability associated with progranulin haploinsufficiency in patients with the common 1477C-->T (Arg493X) mutation: an international initiative. Lancet Neurol 2007, 6(10):857-868.
Rhee H, Lee JS: PADB: published association database. BMC Bioinformatics 2007, 8:348. PMC2039752
Ross OA, Worrall BB, Meschia JF: Advancing stroke therapeutics through genetic understanding. Curr Drug Targets 2007, 8(7):850-859.
Rotimi C, Leppert M, Matsuda I, Zeng C, Zhang H, Adebamowo C, Ajayi I, Aniagwu T, Dixon M, Fukushima Y et al: Community engagement and informed consent in the International HapMap project. Community Genet 2007, 10(3):186-198.
Schymick JC, Scholz SW, Fung HC, Britton A, Arepalli S, Gibbs JR, Lombardo F, Matarin M, Kasperaviciute D, Hernandez DG et al: Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: first stage analysis and public release of data. Lancet Neurol 2007, 6(4):322-328.
Schymick JC, Talbot K, Traynor BJ: Genetics of sporadic amyotrophic lateral sclerosis. Hum Mol Genet 2007, 16 Spec No. 2:R233-242.
Schymick JC, Yang Y, Andersen PM, Vonsattel JP, Greenway M, Momeni P, Elder J, Chio A, Restagno G, Robberecht W et al: Progranulin mutations and amyotrophic lateral sclerosis or amyotrophic lateral sclerosis-frontotemporal dementia phenotypes. J Neurol Neurosurg Psychiatry 2007, 78(7):754-756. PMC2117704
Simon-Sanchez J, Scholz S, Fung HC, Matarin M, Hernandez D, Gibbs JR, Britton A, de Vrieze FW, Peckham E, Gwinn-Hardy K et al: Genome-wide SNP assay reveals structural genomic variation, extended homozygosity and cell-line induced alterations in normal individuals. Hum Mol Genet 2007, 16(1):1-14.
Tian C, Hinds DA, Shigeta R, Adler SG, Lee A, Pahl MV, Silva G, Belmont JW, Hanson RL, Knowler WC et al: A genomewide single-nucleotide-polymorphism panel for Mexican American admixture mapping. Am J Hum Genet 2007, 80(6):1014-1023. PMC1867091
Tzeng JY, Zhang D: Haplotype-based association analysis via variance-components score test. Am J Hum Genet 2007, 81(5):927-938. PMC2265651
Wang K, Li M, Bucan M: Pathway-based approaches for analysis of genomewide association studies. Am J Hum Genet 2007, 81(6):1278-1283. PMC2276352
Worrall BB, Brott TG, Brown RD, Jr., Brown WM, Rich SS, Arepalli S, Wavrant-De Vrieze F, Duckworth J, Singleton AB, Hardy J et al: IL1RN VNTR polymorphism in ischemic stroke: analysis in 3 populations. Stroke 2007, 38(4):1189-1196. PMC2629799
Xiromerisiou G, Hadjigeorgiou GM, Eerola J, Fernandez HH, Tsimourtou V, Mandel R, Hellstrom O, Gwinn-Hardy K, Okun MS, Tienari PJ et al: BDNF tagging polymorphisms and haplotype analysis in sporadic Parkinson's disease in diverse ethnic groups. Neurosci Lett 2007, 415(1):59-63.
Ziegler SG, Eblan MJ, Gutti U, Hruska KS, Stubblefield BK, Goker-Alpan O, LaMarca ME, Sidransky E: Glucocerebrosidase mutations in Chinese subjects from Taiwan with sporadic Parkinson disease. Mol Genet Metab 2007, 91(2):195-200. PMC1950300
Achrol AS, Pawlikowska L, McCulloch CE, Poon KY, Ha C, Zaroff JG, Johnston SC, Lee C, Lawton MT, Sidney S et al: Tumor necrosis factor-alpha-238G>A promoter polymorphism is associated with increased risk of new hemorrhage in the natural course of patients with brain arteriovenous malformations. Stroke 2006, 37(1):231-234.
Chen Y, Pawlikowska L, Yao JS, Shen F, Zhai W, Achrol AS, Lawton MT, Kwok PY, Yang GY, Young WL: Interleukin-6 involvement in brain arteriovenous malformations. Ann Neurol 2006, 59(1):72-80.
Clarimon J, Scholz S, Fung HC, Hardy J, Eerola J, Hellstrom O, Chen CM, Wu YR, Tienari PJ, Singleton A: Conflicting results regarding the semaphorin gene (SEMA5A) and the risk for Parkinson disease. Am J Hum Genet 2006, 78(6):1082-1084; author reply 1092-1084. PMC1474095
Clark LN, Afridi S, Karlins E, Wang Y, Mejia-Santana H, Harris J, Louis ED, Cote LJ, Andrews H, Fahn S et al: Case-control study of the parkin gene in early-onset Parkinson disease. Arch Neurol 2006, 63(4):548-552.
Farrer MJ, Haugarvoll K, Ross OA, Stone JT, Milkovic NM, Cobb SA, Whittle AJ, Lincoln SJ, Hulihan MM, Heckman MG et al: Genomewide association, Parkinson disease, and PARK10. Am J Hum Genet 2006, 78(6):1084-1088; author reply 1092-1084. PMC1474105
Fung HC, Chen CM, Hardy J, Singleton AB, Lee-Chen GJ, Wu YR: Analysis of the PINK1 gene in a cohort of patients with sporadic early-onset parkinsonism in Taiwan. Neurosci Lett 2006, 394(1):33-36.
Fung HC, Scholz S, Matarin M, Simon-Sanchez J, Hernandez D, Britton A, Gibbs JR, Langefeld C, Stiegert ML, Schymick J et al: Genome-wide genotyping in Parkinson's disease and neurologically normal controls: first stage analysis and public release of data. Lancet Neurol 2006, 5(11):911-916.
Garcia ML, Singleton AB, Hernandez D, Ward CM, Evey C, Sapp PA, Hardy J, Brown RH, Jr., Cleveland DW: Mutations in neurofilament genes are not a significant primary cause of non-SOD1-mediated amyotrophic lateral sclerosis. Neurobiol Dis 2006, 21(1):102-109.
Haugarvoll K, Uitti RJ, Farrer MJ, Wszolek ZK: LRRK2 gene and tremor-dominant parkinsonism. Arch Neurol 2006, 63(9):1346-1347.
Jiang H, Jiang Q, Liu W, Feng J: Parkin suppresses the expression of monoamine oxidases. J Biol Chem 2006, 281(13):8591-8599.
Kaufmann P, Mitsumoto H, Committee ADTFS, Members A, Group ALSR: ALS Research Group (ALSRG): second meeting, a summary report. Amyotroph Lateral Scler 2006, 7(4):252-255.
Keen-Kim D, Mathews CA, Reus VI, Lowe TL, Herrera LD, Budman CL, Gross-Tsur V, Pulver AE, Bruun RD, Erenberg G et al: Overrepresentation of rare variants in a specific ethnic group may confuse interpretation of association analyses. Hum Mol Genet 2006, 15(22):3324-3328.
Li Y, Rowland C, Schrodi S, Laird W, Tacey K, Ross D, Leong D, Catanese J, Sninsky J, Grupe A: A case-control association study of the 12 single-nucleotide polymorphisms implicated in Parkinson disease by a recent genome scan. Am J Hum Genet 2006, 78(6):1090-1092; author reply 1092-1094. PMC1474092
Li Y, Schrodi S, Rowland C, Tacey K, Catanese J, Grupe A: Genetic evidence for ubiquitin-specific proteases USP24 and USP40 as candidate genes for late-onset Parkinson disease. Hum Mutat 2006, 27(10):1017-1023.
Limdi NA, Beasley TM, Allison DB, Rivers CA, Acton RT: Racial differences in the prevalence of Factor V Leiden mutation among patients on chronic warfarin therapy. Blood Cells Mol Dis 2006, 37(2):100-106. PMC1829476
Meschia JF, Kissela BM, Brott TG, Brown RD, Jr., Worrall BB, Beck J, Skarp AN: The Siblings With Ischemic Stroke Study (SWISS): a progress report. Clin Med Res 2006, 4(1):12-21. PMC1435656
Momeni P, Rogaeva E, Van Deerlin V, Yuan W, Grafman J, Tierney M, Huey E, Bell J, Morris CM, Kalaria RN et al: Genetic variability in CHMP2B and frontotemporal dementia. Neurodegener Dis 2006, 3(3):129-133.
Momeni P, Schymick J, Jain S, Cookson MR, Cairns NJ, Greggio E, Greenway MJ, Berger S, Pickering-Brown S, Chio A et al: Analysis of IFT74 as a candidate gene for chromosome 9p-linked ALS-FTD. BMC Neurol 2006, 6:44. PMC1764752
Pankratz N, Byder L, Halter C, Rudolph A, Shults CW, Conneally PM, Foroud T, Nichols WC: Presence of an APOE4 allele results in significantly earlier onset of Parkinson's disease and a higher risk with dementia. Mov Disord 2006, 21(1):45-49.
Pawlikowska L, Poon KY, Achrol AS, McCulloch CE, Ha C, Lum K, Zaroff JG, Ko NU, Johnston SC, Sidney S et al: Apolipoprotein E epsilon 2 is associated with new hemorrhage risk in brain arteriovenous malformations. Neurosurgery 2006, 58(5):838-843; discussion 838-843. PMC4648360
Scholz S, Mandel RJ, Fernandez HH, Foote KD, Rodriguez RL, Barton E, Munson S, Singleton A, Okun MS: LRRK2 mutations in a clinic-based cohort of Parkinson's disease. Eur J Neurol 2006, 13(12):1298-1301.
Scholz SW, Xiromerisiou G, Fung HC, Eerola J, Hellstrom O, Papadimitriou A, Hadjigeorgiou GM, Tienari PJ, Fernandez HH, Mandel R et al: The human prion gene M129V polymorphism is not associated with idiopathic Parkinson's disease in three distinct populations. Neurosci Lett 2006, 395(3):227-229.
Shaw G: INNOVATIVE COLLABORATION TO CREATE ALS DNA BANK. Neurology Today 2006, 6(4):5-6.
Sun M, Latourelle JC, Wooten GF, Lew MF, Klein C, Shill HA, Golbe LI, Mark MH, Racette BA, Perlmutter JS et al: Influence of heterozygosity for parkin mutation on onset age in familial Parkinson disease: the GenePD study. Arch Neurol 2006, 63(6):826-832.
Woo D, Kaushal R, Kissela B, Sekar P, Wolujewicz M, Pal P, Alwell K, Haverbusch M, Ewing I, Miller R et al: Association of Phosphodiesterase 4D with ischemic stroke: a population-based case-control study. Stroke 2006, 37(2):371-376.
Zaroff JG, Pawlikowska L, Miss JC, Yarlagadda S, Ha C, Achrol A, Kwok PY, McCulloch CE, Lawton MT, Ko N et al: Adrenoceptor polymorphisms and the risk of cardiac injury and dysfunction after subarachnoid hemorrhage. Stroke 2006, 37(7):1680-1685. PMC4654957
Adams JR, van Netten H, Schulzer M, Mak E, McKenzie J, Strongosky A, Sossi V, Ruth TJ, Lee CS, Farrer M et al: PET in LRRK2 mutations: comparison to sporadic Parkinson's disease and evidence for presymptomatic compensation. Brain 2005, 128(Pt 12):2777-2785.
Broderick JP, Sauerbeck LR, Foroud T, Huston J, 3rd, Pankratz N, Meissner I, Brown RD, Jr.: The Familial Intracranial Aneurysm (FIA) study protocol. BMC Med Genet 2005, 6:17. PMC1097731
Clarimon J, Johnson J, Dogu O, Horta W, Khan N, Lees AJ, Hardy J, Singleton A: Defining the ends of Parkin exon 4 deletions in two different families with Parkinson's disease. Am J Med Genet B Neuropsychiatr Genet 2005, 133B(1):120-123.
Cronin S, Furie KL, Kelly PJ: Dose-related association of MTHFR 677T allele with risk of ischemic stroke: evidence from a cumulative meta-analysis. Stroke 2005, 36(7):1581-1587.
Dlugos DJ, Scattergood TM, Ferraro TN, Berrettinni WH, Buono RJ: Recruitment rates and fear of phlebotomy in pediatric patients in a genetic study of epilepsy. Epilepsy Behav 2005, 6(3):444-446.
Foroud T: LRRK2: both a cause and a risk factor for Parkinson disease?Neurology 2005, 65(5):664-665.
Hernandez D, Paisan Ruiz C, Crawley A, Malkani R, Werner J, Gwinn-Hardy K, Dickson D, Wavrant Devrieze F, Hardy J, Singleton A: The dardarin G 2019 S mutation is a common cause of Parkinson's disease but not other neurodegenerative diseases. Neurosci Lett 2005, 389(3):137-139.
Howard TD, Giles WH, Xu J, Wozniak MA, Malarcher AM, Lange LA, Macko RF, Basehore MJ, Meyers DA, Cole JW et al: Promoter polymorphisms in the nitric oxide synthase 3 gene are associated with ischemic stroke susceptibility in young black women. Stroke 2005, 36(9):1848-1851. PMC1494105
Kachergus J, Mata IF, Hulihan M, Taylor JP, Lincoln S, Aasly J, Gibson JM, Ross OA, Lynch T, Wiley J et al: Identification of a novel LRRK2 mutation linked to autosomal dominant parkinsonism: evidence of a common founder across European populations. Am J Hum Genet 2005, 76(4):672-680. PMC1199304
Martinez M, Brice A, Vaughan JR, Zimprich A, Breteler MM, Meco G, Filla A, Farrer MJ, Betard C, Singleton A et al: Apolipoprotein E4 is probably responsible for the chromosome 19 linkage peak for Parkinson's disease. Am J Med Genet B Neuropsychiatr Genet 2005, 136B(1):72-74.
Mata IF, Kachergus JM, Taylor JP, Lincoln S, Aasly J, Lynch T, Hulihan MM, Cobb SA, Wu RM, Lu CS et al: Lrrk2 pathogenic substitutions in Parkinson's disease. Neurogenetics 2005, 6(4):171-177.
Meschia JF, Brott TG, Brown RD, Jr., Crook R, Worrall BB, Kissela B, Brown WM, Rich SS, Case LD, Evans EW et al: Phosphodiesterase 4D and 5-lipoxygenase activating protein in ischemic stroke. Ann Neurol 2005, 58(3):351-361. PMC1774984
Miller DW, Crawley A, Gwinn-Hardy K, Lopez G, Nussbaum R, Cookson MR, Singleton AB, Hardy J, Dogu O: Unaltered alpha-synuclein blood levels in juvenile Parkinsonism with a parkin exon 4 deletion. Neurosci Lett 2005, 374(3):189-191.
Nichols WC, Pankratz N, Hernandez D, Paisan-Ruiz C, Jain S, Halter CA, Michaels VE, Reed T, Rudolph A, Shults CW et al: Genetic screening for a single common LRRK2 mutation in familial Parkinson's disease. Lancet 2005, 365(9457):410-412.
Pawlikowska L, Tran MN, Achrol AS, Ha C, Burchard E, Choudhry S, Zaroff J, Lawton MT, Castro R, McCulloch CE et al: Polymorphisms in transforming growth factor-beta-related genes ALK1 and ENG are associated with sporadic brain arteriovenous malformations. Stroke 2005, 36(10):2278-2280.
Toft M, Aasly J, Bisceglio G, Adler CH, Uitti RJ, Krygowska-Wajs A, Lynch T, Wszolek ZK, Farrer MJ: Parkinsonism, FXTAS, and FMR1 premutations. Mov Disord 2005, 20(2):230-233.
Woo D, Kaushal R, Chakraborty R, Woo J, Haverbusch M, Sekar P, Kissela B, Pancioli A, Jauch E, Kleindorfer D et al: Association of apolipoprotein E4 and haplotypes of the apolipoprotein E gene with lobar intracerebral hemorrhage. Stroke 2005, 36(9):1874-1879.
Woo D, Sekar P, Chakraborty R, Haverbusch MA, Flaherty ML, Kissela BM, Kleindorfer D, Schneider A, Khoury J, Sauerbeck LR et al: Genetic epidemiology of intracerebral hemorrhage. J Stroke Cerebrovasc Dis 2005, 14(6):239-243. PMC1615714
Dogu O, Johnson J, Hernandez D, Hanson M, Hardy J, Apaydin H, Ozekmekci S, Sevim S, Gwinn-Hardy K, Singleton A: A consanguineous Turkish family with early-onset Parkinson's disease and an exon 4 parkin deletion. Mov Disord 2004, 19(7):812-816.
Johnson J, Hague SM, Hanson M, Gibson A, Wilson KE, Evans EW, Singleton AA, McInerney-Leo A, Nussbaum RL, Hernandez DG et al: SNCA multiplication is not a common cause of Parkinson disease or dementia with Lewy bodies. Neurology 2004, 63(3):554-556.
Meschia JF, Worrall BB: New advances in identifying genetic anomalies in stroke-prone probands. Curr Neurol Neurosci Rep 2004, 4(5):420-426.
Rogaeva E, Johnson J, Lang AE, Gulick C, Gwinn-Hardy K, Kawarai T, Sato C, Morgan A, Werner J, Nussbaum R et al: Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease. Arch Neurol 2004, 61(12):1898-1904.
Singleton A, Gwinn-Hardy K, Sharabi Y, Li ST, Holmes C, Dendi R, Hardy J, Singleton A, Crawley A, Goldstein DS: Association between cardiac denervation and parkinsonism caused by alpha-synuclein gene triplication. Brain 2004, 127(Pt 4):768-772.
Walz R, Castro RM, Landemberger MC, Velasco TR, Terra-Bustamante VC, Bastos AC, Bianchin M, Wichert-Ana L, Araujo D, Alexandre V, Jr. et al: Cortical malformations are associated with a rare polymorphism of cellular prion protein. Neurology 2004, 63(3):557-560.
El-Agnaf OM, Salem SA, Paleologou KE, Cooper LJ, Fullwood NJ, Gibson MJ, Curran MD, Court JA, Mann DM, Ikeda S et al: Alpha-synuclein implicated in Parkinson's disease is present in extracellular biological fluids, including human plasma. FASEB J 2003, 17(13):1945-1947.
Meschia JF, Brott TG, Brown RD, Jr., Crook RJ, Frankel M, Hardy J, Merino JG, Rich SS, Silliman S, Worrall BB et al: The Ischemic Stroke Genetics Study (ISGS) Protocol. BMC Neurol 2003, 3:4. PMC184375
Singleton AB, Farrer M, Johnson J, Singleton A, Hague S, Kachergus J, Hulihan M, Peuralinna T, Dutra A, Nussbaum R et al: alpha-Synuclein locus triplication causes Parkinson's disease. Science 2003, 302(5646):841.
Gwinn-Hardy K, Mehta ND, Farrer M, Maraganore D, Muenter M, Yen SH, Hardy J, Dickson DW: Distinctive neuropathology revealed by alpha-synuclein antibodies in hereditary parkinsonism and dementia linked to chromosome 4p. Acta Neuropathol 2000, 99(6):663-672.
Farrer M, Gwinn-Hardy K, Muenter M, DeVrieze FW, Crook R, Perez-Tur J, Lincoln S, Maraganore D, Adler C, Newman S et al: A chromosome 4p haplotype segregating with Parkinson's disease and postural tremor. Hum Mol Genet 1999, 8(1):81-85.
Gwinn-Hardy K, Evidente VG, Waters C, Muenter MD, Hardy J: L-dopa slows the progression of familial parkinsonism. Lancet 1999, 353(9167):1850-1851.
Muenter MD, Forno LS, Hornykiewicz O, Kish SJ, Maraganore DM, Caselli RJ, Okazaki H, Howard FM, Jr., Snow BJ, Calne DB: Hereditary form of parkinsonism--dementia. Ann Neurol 1998, 43(6):768-781.
Waters CH, Miller CA: Autosomal dominant Lewy body parkinsonism in a four-generation family. Ann Neurol 1994, 35(1):59-64.
