Article
Phenotypes in Swiss patients with familial ALS carrying TARDBP mutations.
Neuro-degenerative diseases - 1 Jan 2013
Czell D, Andersen P M, Morita M, Neuwirth C, Perren F, Weber M
Abstract excerpt
BACKGROUND: 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. OBJECTIVE: To define the phenotypic spectrum of TARDBP mutations and their frequency in a Swiss...
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