Clinical and experimental studies of a novel P525R FUS mutation in amyotrophic lateral sclerosis

OBJECTIVE: To describe the clinical features of a novel fused in sarcoma (FUS) mutation in a young adult female amyotrophic lateral sclerosis (ALS) patient with rapid progression of weakness and to experimentally validate the consequences of the P525R mutation in cellular neuronal models. METHODS: W...

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Publicado no:Neurol Genet
Main Authors: Kuang, Lisha, Kamelgarn, Marisa, Arenas, Alexandra, Gal, Jozsef, Taylor, Deborah, Gong, Weiming, Brown, Martin, St. Clair, Daret, Kasarskis, Edward J., Zhu, Haining
Formato: Artigo
Idioma:Inglês
Publicado em: Wolters Kluwer 2017
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5546284/
https://ncbi.nlm.nih.gov/pubmed/28812062
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000172
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