Cell lines available through the NINDS Human Genetics Resource Center were utilized in this study of PIKFYVE kinase inhibition.
read moreThis article summarizes the largest genome-wide association study of dystonia so far conducted using NINDS Repository cervical dystonia samples.
read moreThis collection, housed at the Coriell Institute for Medical Research since its creation, contains cell lines, DNA, and extensive de-identified clinical data from thousands of patients diagnosed with a wide range of neurological disorders, including some of the most pressing diseases of our time—stroke, parkinsonism, and several others.
read moreISBER awarded a team of Coriell scientists its inaugural ISBER Best Paper Award for their article “Microsatellite Markers in Biobanking: A New Multiplexed Assay,” published in the journal Biopreservation and Biobanking. This paper detailed the development of a novel microsatellite assay to ensure proper sample identification while doing the utmost to maintain donor protections.
read moreThis 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.
read moreIn 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.
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