• Apr 2024

    A blood-based marker of mitochondrial DNA damage in Parkinson’s disease

    This article describes a PCR-based assay (Mito DNADX) that quantifies mtDNA damage in a scalable platform.

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  • Sep 2023

    PIKFYVE inhibition mitigates disease in models of diverse forms of ALS

    Cell lines available through the NINDS Human Genetics Resource Center were utilized in this study of PIKFYVE kinase inhibition.

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  • Sep 2022

    A Multi-center Genome-wide Association Study of Cervical Dystonia

    This article summarizes the largest genome-wide association study of dystonia so far conducted using NINDS Repository cervical dystonia samples.

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  • Sep 2022

    NINDS Human Genetics Resource Celebrates 20 Years!

    This 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.

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  • Jul 2022

    Coriell Scientists Awarded ISBER’s Inaugural Best Paper Award

    ISBER 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.

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  • 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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