Article
FUS mutations in sporadic amyotrophic lateral sclerosis.
Neurobiology of aging - 1 Mar 2011
Lai Shiao-Lin, Abramzon Yevgeniya, Schymick Jennifer C, Stephan Dietrich A, Dunckley Travis, Dillman Allissa, Cookson Mark, Calvo Andrea, Battistini Stefania, Giannini Fabio, Caponnetto Claudia, Mancardi Giovanni Luigi, Spataro Rossella, Monsurro Maria Rosaria, Tedeschi Gioacchino, Marinou Kalliopi, Sabatelli Mario, Conte Amelia, Mandrioli Jessica, Sola Patrizia, Salvi Fabrizio, Bartolomei Ilaria, Lombardo Federica, Mora Gabriele, Restagno Gabriella, Chiò Adriano, Traynor Bryan J
Abstract excerpt
Mutations in the FUS gene have recently been described as a cause of familial amyotrophic lateral sclerosis (ALS), but their role in the pathogenesis of sporadic ALS is unclear. We undertook mutational screening of all coding exons of FUS in 228 sporadic ALS cases, and, as previous reports suggest that exon 15 represents a mutational hotspot, we sequenced this exon in an additional 1295 sporadic cases. Six...
Topics
Join the communities discussing this publication.