Phenotypes in Swiss patients with familial ALS carrying TARDBP mutations

Czell, D; Andersen, P M; Morita, M; Neuwirth, C; Perren, Fabienne; Weber, M

doi:10.1159/000345835

Scientific article

English

Phenotypes in Swiss patients with familial ALS carrying TARDBP mutations

ContributorsCzell, D; Andersen, P M; Morita, M; Neuwirth, C; Perren, Fabienne

; Weber, M

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

Affiliation entities

Faculté de médecine / Section de médecine clinique / Département des neurosciences cliniques

Research groups

Laboratoire de neuroimagerie clinique d'ultrasons ultrarapides (972)

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

Article (Published version)

Identifiers

PID : unige:90324
DOI : 10.1159/000345835
PMID : 23327806

Journal ISSN1660-2854

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Phenotypes in Swiss patients with familial ALS carrying TARDBP mutations

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.

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