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.
read moreIn 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.
read moreThe 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.
read moreA 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.
read moreThis 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.
read moreThis 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.
read moreThis 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.
read moreThis 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.
read moreMiRNAs identified in this study could potentially be used as disease biomarkers and for the development of novel therapeutic approaches.
read moreThis study, using a large-scale genome-wide association framework and exome sequencing, identified KIF5A as a novel gene associated with ALS.
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