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UnknownMechanism-free repurposing of drugs for C9orf72-related ALS/FTD using large-scale genomic data.
Repeat expansions in the C9orf72 gene are the most common genetic cause of (ALS) and frontotemporal dementia (FTD). Like other genetic forms of neurodegeneration, pinpointing the precise mechanism(s) by which this mutation leads to neuronal death remains elusive, and this lack of knowledge hampers t...
S-EPMC11605688 | biostudies-literature
UnknownGenome-wide Analyses Identify KIF5A as a Novel ALS Gene.
To identify novel genes associated with ALS, we undertook two lines of investigation. We carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 controls. Independently, we performed a rare variant burden analysis comparing 1,138 index familial ALS cases and 19,494 controls...
S-EPMC5867896 | biostudies-literature
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