• Aug 2021

    Diverse genetic causes of polymicrogyria with epilepsy

    This study performed trio-based whole exome sequencing (WES) in a multicenter, international cohort of patients with polymicrogyria and epilepsy recruited and extensively phenotyped through the Epilepsy Phenome/Genome Project (EPGP) and sequenced through the Epi4K Consortium.

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  • Feb 2021

    Evolution of a Human-Specific Tandem Repeat Associated with ALS

    In this study, published in The American Journal of Human Genetics, researchers took a genome-wide approach to look for human-specific repeat variants, variable number tandem repeats (VNTRs), that distinguish neurological disease populations.

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  • Aug 2020

    Kv1.3 modulates neuroinflammation and neurodegeneration in Parkinson’s disease

    In this study, published in The Journal of Clinical Investigation, researchers used NINDS Repository lymphoblastoid cell lines to investigate the role of microglial Kv1.3, a voltage-gated potassium channel, in Parkinson’s Disease (PD) pathology and the transcriptional and posttranslational modifications of this channel in PD models.

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  • Apr 2020

    Defining research priorities in dystonia

    The NIH brought together leaders in dystonia research for a 2-day workshop. The participants addressed the natural history of the disease, the underlying etiology, the pathophysiology, relevant research technologies, research resources, and therapeutic approaches and attempted to prioritize dystonia research recommendations.

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  • Feb 2020

    Integrating Biological Knowledge Into Case–Control Analysis Through Iterated Conditional Modes/Medians Algorithm

    A new empirical Bayes model for logistic regression is presented in this article. NINDS Repository Parkinson's data submitted to dbGaP were used to highlight the advantages of the new method.

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  • Jan 2020

    Mutations in the SPTLC1 gene are a cause of amyotrophic lateral sclerosis that may be amenable to serine supplementation

    This study, using exome sequencing, identified a de novo variant in SPTLC1 resulting in a p.Ala20Ser amino acid change in an individual diagnosed with juvenile-onset amyotrophic lateral sclerosis (ALS). Researchers also found SPTLC1 mutations in 0.34% of 5,607 ALS cases, and immunohistochemically confirmed the expression of SPTLC1 in spinal cord motor neurons, supporting its role in the pathogenesis of this fatal neurological disease.

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  • Jun 2019

    Genetic and lifestyle risk factors for MRI-defined brain infarcts in a population-based setting

    This multiethnic, population-based study on 20,949 participants sheds important new light on susceptibility factors of brain infarcts, a marker of covert vascular brain injury commonly observed in older persons.

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  • Dec 2018

    Comprehensive genotyping of the C9orf72 hexanucleotide repeat region in 2095 ALS samples from the NINDS collection using a two-mode, longread PCR assay

    This study, using a novel bimodal PCR assay capable of amplifying nearly 100% of GC-rich sequences, provides comprehensive genotyping of the C9orf72 repeat region for over 2000 ALS samples collected in the National Institute of Neurological Disorders and Stroke (NINDS) Human Genetics Resource Center.

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  • Jul 2018

    Regional Collapsing of Rare Variation Implicates Specific Genic Regions in ALS

    This study, published in bioRxiv, developed two collapsing strategies. The new analyses not only pinpoint risk regions in known genes but also highlight candidate genes as well.

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  • May 2018

    Identification of novel circulatory microRNA signatures linked to patients with ischemic stroke

    MiRNAs identified in this study could potentially be used as disease biomarkers and for the development of novel therapeutic approaches.

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