Article
The Distinct Traits of the UNC13A Polymorphism in Amyotrophic Lateral Sclerosis.
Annals of neurology - 1 Oct 2020
Tan Harold H G, Westeneng Henk-Jan, van der Burgh Hannelore K, van Es Michael A, Bakker Leonhard A, van Veenhuijzen Kevin, van Eijk Kristel R, van Eijk Ruben P A, Veldink Jan H, van den Berg Leonard H
Abstract excerpt
OBJECTIVE: The rs12608932 single nucleotide polymorphism in UNC13A is associated with amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) susceptibility, and may underlie differences in treatment response. We aimed to characterize the clinical, cognitive, behavioral, and neuroimaging phenotype of UNC13A in patients with ALS. METHODS: We included 2,216 patients with ALS without a C9orf72 mutation...
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