Article
VAPB and C9orf72 mutations in 1 familial amyotrophic lateral sclerosis patient.
Neurobiology of aging - 1 Dec 2012
van Blitterswijk Marka, van Es Michael A, Koppers Max, van Rheenen Wouter, Medic Jelena, Schelhaas Helenius J, van der Kooi Anneke J, de Visser Marianne, Veldink Jan H, van den Berg Leonard H
Abstract excerpt
Previously, we have reported amyotrophic lateral sclerosis (ALS) families with multiple mutations in major ALS-associated genes. These findings provided evidence for an oligogenic basis of ALS. In our present study, we screened a cohort of 755 sporadic ALS patients, 111 familial ALS patients (97 families), and 765 control subjects of Dutch descent for mutations in vesicle-associated membrane protein B (VAPB). We...
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