De Novo Truncating FUS Gene Mutation as a Cause of Sporadic Amyotrophic Lateral Sclerosis

Mutations in the gene encoding fused in sarcoma (FUS) were recently identified as a novel cause of amyotrophic lateral sclerosis (ALS), emphasizing the genetic heterogeneity of ALS. We sequenced the genes encoding superoxide dismutase (SOD1), TAR DNA-binding protein 43 (TARDBP) and FUS in 99 sporadi...

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Detalhes bibliográficos
Main Authors: DeJesus-Hernandez, Mariely, Kocerha, Jannet, Finch, NiCole, Crook, Richard, Baker, Matt, Desaro, Pamela, Johnston, Amelia, Rutherford, Nicola, Wojtas, Aleksandra, Kennelly, Kathleen, Wszolek, Zbigniew K., Graff-Radford, Neill, Boylan, Kevin, Rademakers, Rosa
Formato: Artigo
Idioma:Inglês
Publicado em: 2010
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2922682/
https://ncbi.nlm.nih.gov/pubmed/20232451
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.21241
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