Ontology highlight
ABSTRACT:
SUBMITTER: Guerreiro RJ
PROVIDER: S-EPMC2408729 | biostudies-literature | 2008 Jun
REPOSITORIES: biostudies-literature
Guerreiro Rita J RJ Schymick Jennifer C JC Crews Cynthia C Singleton Andrew A Hardy John J Traynor Bryan J BJ
PloS one 20080611 6
<h4>Background</h4>TAR DNA binding protein, encoded by TARDBP, was shown to be a central component of ubiquitin-positive, tau-negative inclusions in frontotemporal lobar degeneration (FTLD-U) and amyotrophic lateral sclerosis (ALS). Recently, mutations in TARDBP have been linked to familial and sporadic ALS.<h4>Methodology/principal findings</h4>To further examine the frequency of mutations in TARDBP in sporadic ALS, 279 ALS cases and 806 neurologically normal control individuals of European des ...[more]