3 documents found, page 1 of 1
Genome-wide analyses identify KIF5A as a novel ALS gene
Nicolas, Aude; Kenna, Kevin P.; Renton, Alan E.; Ticozzi, Nicola; Faghri, Faraz; Chia, Ruth; Dominov, Janice A.; Kenna, Brendan J.; Nalls, Mike A.To identify novel genes associated with ALS, we undertook two lines of investigation. We carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 controls. Independently, we performed a rare variant burden analysis comparing 1,138 index familial ALS cases and 19,494 controls. Through both approaches, we identified kinesin family member 5A (KIF5A) as a novel gene associated with ALS. Int...
Ubiquitin associated protein 1 is a risk factor for frontotemporal lobar degene...
Rollinson, Sara; Rizzu, Patrizia; Sikkink, Stephen; Baker, Matthew; Halliwell, Nicola; Snowden, Julie; Traynor, Bryan J.; Ruano, Dina; Cairns, Nigelhttp://www.sciencedirect.com/science/article/B6T09-4VKMW0R-1/2/c38ac7e3dcb87f1e42d35a151a3f69b2
TDP-43 is not a common cause of sporadic amyotrophic lateral sclerosis
Guerreiro, Rita; Schymick, Jennifer C.; Crews, Cynthia; Singleton, Andrew; Hardy, John; Traynor, Bryan J.Background: 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. Methodology/Principal Findings: To further examine the frequency of mutations in TARDBP in sporadic ALS, 279 AL...