en
Scientific article
English

Phenotypes in Swiss patients with familial ALS carrying TARDBP mutations

Published inNeurodegenerative diseases, vol. 12, no. 3, p. 150-155
Publication date2013
Abstract

Recently, mutations in the TARDBP gene encoding the TAR DNA-binding protein 43 (TDP-43) have been identified in some familial amyotrophic lateral sclerosis (ALS) and sporadic ALS patients. The phenotype and frequency of TARDBP mutation carriers reportedly varies greatly among European populations.

Keywords
  • Amyotrophic Lateral Sclerosis/genetics
  • DNA-Binding Proteins/genetics
  • Female
  • Humans
  • Male
  • Middle Aged
  • Mutation
  • Phenotype
  • Switzerland
Citation (ISO format)
CZELL, D et al. Phenotypes in Swiss patients with familial ALS carrying TARDBP mutations. In: Neurodegenerative diseases, 2013, vol. 12, n° 3, p. 150–155. doi: 10.1159/000345835
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Article (Published version)
accessLevelRestricted
Identifiers
ISSN of the journal1660-2854
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