Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS

Article, Other literature type English OPEN
Johnson, Janel O. ; Mandrioli, Jessica ; Benatar, Michael ; Abramzon, Yevgeniya ; Van Deerlin, Vivianna M. ; Trojanowski, John Q. ; Gibbs, J. Raphael ; Brunetti, Maura ; Gronka, Susan ; Wuu, Joanne ; Ding, Jinhui ; McCluskey, Leo ; Martinez-Lage, Maria ; Falcone, Dana ; Hernandez, Dena G. ; Arepalli, Sampath ; Chong, Sean ; Schymick, Jennifer C. ; Rothstein, Jeffrey ; Landi, Francesco ; Wang, Yong-Dong ; Calvo, Andrea ; Mora, Gabriele ; Sabatelli, Mario ; Monsurrò, Maria Rosaria ; Battistini, Stefania ; Salvi, Fabrizio ; Spataro, Rossella ; Sola, Patrizia ; Borghero, Giuseppe ... view all 36 authors (2010)

Using exome sequencing, we identified a p.R191Q amino acid change in the valosin-containing protein (VCP) gene in an Italian family with autosomal dominantly inherited amyotrophic lateral sclerosis (ALS). Mutations in VCP have previously been identified in families with... View more
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