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Genome-wide Analyses Identify KIF5A as a Novel ALS Gene
(Elsevier (Cell Press), 2018-03-21)
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 ...
ATXN2 trinucleotide repeat length correlates with risk of ALS
(Elsevier/Science Direct, 2016-11-24)
We investigated a CAG trinucleotide repeat expansion in the ATXN2 gene in amyotrophic lateral sclerosis (ALS). Two new case-control studies, a British dataset of 1474 ALS cases and 567 controls, and a Dutch dataset of 1328 ...