Article
Gene discovery in amyotrophic lateral sclerosis: implications for clinical management.
Nature reviews. Neurology - 1 Feb 2017
Al-Chalabi Ammar, van den Berg Leonard H, Veldink Jan
Abstract excerpt
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease predominantly affecting upper and lower motor neurons. The disease leads to relentlessly progressive weakness of voluntary muscles, with death typically resulting from diaphragmatic failure within 2-5 years. Since the discovery of mutations in SOD1, which account for ∼2% of ALS cases, increasing efforts have been made to understand the genetic...
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