News

  • 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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  • Apr 2018

    Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

    This 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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  • Mar 2018

    Haploinsufficiency leads to neurodegeneration in C9ORF72 ALS/FTD human induced motor neurons

    The identification of targets that effectively modulate vesicle trafficking in neurons, glia and myeloid cells could hold tremendous therapeutic value for C9ORF72 ALS and FTD and other CNS disorders.

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  • Aug 2017

    TIA1 Mutations in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Promote Phase Separation and Alter Stress Granule Dynamics

    This study, published in the journal Neuron, identifies a rare mutation found in ALS/FTD cases. These findings reinforce the importance of disturbed RNA metabolism in ALS/FTD and place altered membrane-less organelle dynamics at the center of ALS/FTD pathogenesis.

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  • Jan 2017

    Genome-wide Pathway-based Association Analysis Identifies Risk Pathways Associated with Parkinson's Disease

    This study, published in Neuroscience, identifies risk pathways associated with Parkinson’s disease, using Genome-wide pathway-based association analysis.

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  • Dec 2016

    Genome-wide Estimate of the Heritability of Multiple System Atrophy

    A study published in the journal of Parkinsonism and Related Disorders used Genome-Wide Complex Trait Analysis (GCTA) to estimate the heritable component of Multiple System Atrophy (MSA) due to common coding variability in imputed genotype data of 907 MSA cases and 3866 population-matched controls.

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  • Nov 2016

    Representatives from NINDS Repository attend ASHG and SfN

    Representatives from the NINDS Repository joined scientific colleagues from 66 different countries at the 2016 ASHG annual meeting in Vancouver, Canada and more than 30,300 attendees from 80 countries at SfN's Neuroscience in San Diego, November 12-16, 2016.

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  • Oct 2016

    Mucolipidosis Types II and III and Non-syndromic Stuttering are Associated with Different Variants in the Same Genes

    A study published in the European Journal of Genetics identified a subset of rare non-synonymous coding variants in the GNPTAB, GNPTG, and NAGPA genes that may account for as much as 16% of persistent stuttering cases.

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