Valosin-containing protein mutations in sporadic amyotrophic lateral sclerosis

We recently reported that mutations in the VCP gene are a cause of 1–2% of familial amyotrophic lateral sclerosis (ALS) cases, but their role in the pathogenesis of sporadic ALS is unclear. We undertook mutational screening of VCP in 701 sporadic ALS cases. Three pathogenic variants (p.Arg159Cys, p....

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Hauptverfasser: Abramzon, Yevgeniya, Johnson, Janel O., Scholz, Sonja W., Taylor, J. Paul, Brunetti, Maura, Calvo, Andrea, Mandrioli, Jessica, Benatar, Michael, Mora, Gabriele, Restagno, Gabriella, Chiò, Adriano, Traynor, Bryan J.
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2012
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3391327/
https://ncbi.nlm.nih.gov/pubmed/22572540
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.neurobiolaging.2012.04.005
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