Article
Novel optineurin mutations in sporadic amyotrophic lateral sclerosis patients.
Neurobiology of aging - 1 May 2012
van Blitterswijk Marka, van Vught Paul W J, van Es Michael A, Schelhaas Helenius J, van der Kooi Anneke J, de Visser Marianne, Veldink Jan H, van den Berg Leonard H
Abstract excerpt
Optineurin (OPTN) mutations have been reported in a cohort of Japanese patients with familial (FALS) and sporadic (SALS) amyotrophic lateral sclerosis. In Caucasian patients, OPTN mutations have been identified in FALS patients, but were not detected in a cohort of 95 SALS patients. Moreover, single nucleotide polymorphisms (SNPs) in OPTN that could raise amyotrophic lateral sclerosis (ALS) susceptibility have...
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