Description:
CONTROL PANEL FOR YOUNG ONSET PARKINSON'S; UNAFFECTED INDIVIDUALS
POPULATION/CONVENIENCE CONTROL
Repository
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Subcollection |
Control |
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Ethnicity
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Genetic Data
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Estrada K, Whelan CW, Zhao F, Bronson P, Handsaker RE, Sun C, Carulli JP, Harris T, Ransohoff RM, McCarroll SA, Day-Williams AG, Greenberg BM, MacArthur DG, A whole-genome sequence study identifies genetic risk factors for neuromyelitis optica Nature communications9:1929 2018 |
PubMed ID: 29769526 |
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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 Genetics in medicine : official journal of the American College of Medical Genetics9:1929 2017 |
PubMed ID: 28771248 |
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Raza MH, Domingues CE, Webster R, Sainz E, Paris E, Rahn R, Gutierrez J, Chow HM, Mundorff J, Kang CS, Riaz N, Basra MA, Khan S, Riazuddin S, Moretti-Ferreira D, Braun A, Drayna D, Mucolipidosis types II and III and non-syndromic stuttering are associated with different variants in the same genes European journal of human genetics : EJHG24:529-34 2015 |
PubMed ID: 26130485 |
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Raza MH, Mattera R, Morell R, Sainz E, Rahn R, Gutierrez J, Paris E, Root J, Solomon B, Brewer C, Basra MA, Khan S, Riazuddin S, Braun A, Bonifacino JS, Drayna D, Association between Rare Variants in AP4E1, a Component of Intracellular Trafficking, and Persistent Stuttering American journal of human genetics97:715-25 2015 |
PubMed ID: 26544806 |
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Slaats GG, Isabella CR, Kroes HY, Dempsey JC, Gremmels H, Monroe GR, Phelps IG, Duran KJ, Adkins J, Kumar SA, Knutzen DM, Knoers NV, Mendelsohn NJ, Neubauer D, Mastroyianni SD, Vogt J, Worgan L, Karp N, Bowdin S, Glass IA, Parisi MA, Otto EA, Johnson CA, Hildebrandt F, van Haaften G, Giles RH, Doherty D, MKS1 regulates ciliary INPP5E levels in Joubert syndrome Journal of medical genetics53:62-72 2015 |
PubMed ID: 26490104 |
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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
Movement Disorders25(6):747-52 2010 |
PubMed ID: 20437540 |
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Joyce van de Leemput, PhD,1,2,3
Fabienne Wavrant-De Vrie`ze, BA,1
Ian Rafferty, BA,1 Jose M. Bras, MS,1
Paola Giunti, MD,2 Elizabeth MC Fisher, PhD,3
John A. Hardy, PhD,2 Andrew B. Singleton, PhD,1*
and Henry Houlden, MD2, Sequencing Analysis of the ITPR1
Gene in a Pure Autosomal Dominant
Spinocerebellar Ataxia Series Movement Disorders25 (6):763-5 2010 |
PubMed ID: 20437544 |
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Xiao J, Zhao Y, Bastian RW, Perlmutter JS, Racette BA, Tabbal SD, Karimi M, Paniello RC, Wszolek ZK, Uitti RJ, Van Gerpen JA, Simon DK, Tarsy D, Hedera P, Truong DD, Frei KP, Dev Batish S, Blitzer A, Pfeiffer RF, Gong S, LeDoux MS., Novel THAP1 Sequence Variants in
Primary Dystonia Neurology74:229-38 2010 |
PubMed ID: 20083799 |
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Chiò A, Schymick JC, Restagno G, Scholz SW, Lombardo F, Lai SL, Mora G, Fung HC, Britton A, Arepalli S, Gibbs JR, Nalls M, Berger S, Kwee LC, Oddone EZ, Ding J, Crews C, Rafferty I, Washecka N, Hernandez D, Ferrucci L, Bandinelli S, Guralnik J, Macciardi F, Torri F, Lupoli S, Chanock SJ, Thomas G, Hunter DJ, Gieger C, Wichmann HE, Calvo A, Mutani R, Battistini S, Giannini F, Caponnetto C, Mancardi GL, La Bella V, Valentino F, Monsurrò MR, Tedeschi G, Marinou K, Sabatelli M, Conte A, Mandrioli J, Sola P, Salvi F, Bartolomei I, Siciliano G, Carlesi C, Orrell RW, Talbot K, Simmons Z, Connor J, Pioro EP, Dunkley T, Stephan DA, Kasperaviciute D, Fisher EM, Jabonka S, Sendtner M, Beck M, Bruijn L, Rothstein J, Schmidt S, Singleton A, Hardy J, Traynor BJ, A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis Human molecular genetics18:1524-32 2009 |
PubMed ID: 19193627 |
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Simón-Sánchez J, Singleton AB, Sequencing analysis of OMI/HTRA2 shows previously reported pathogenic mutations in neurologically normal controls Human molecular genetics17:1988-93 2008 |
PubMed ID: 18364387 |
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