Abstract:Genetic variation in the neurofilament heavy chain gene (NEFH) has been convincingly linked to the pathogenesis of multiple neurodegenerative diseases, however, the relationship between NEFH mutations and ALS susceptibility has not been robustly explored. We therefore wanted to determine if genetic variants in NEFH modify ALS risk. We performed fixed and random effects model meta-analysis of published case-control studies reporting NEFH variant frequencies using next-generation sequencing, microarray or PCR-ba… Show more
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