De Novo Mutations in Ataxin-2 Gene and ALS Risk

Pathogenic CAG repeat expansion in the ataxin-2 gene (ATXN2) is the genetic cause of spinocerebellar ataxia type 2 (SCA2). Recently, it has been associated with Parkinsonism and increased genetic risk for amyotrophic lateral sclerosis (ALS). Here we report the association of de novo mutations in ATX...

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Autori principali: Laffita-Mesa, José Miguel, Rodríguez Pupo, Jorge Michel, Moreno Sera, Raciel, Vázquez Mojena, Yaimee, Kourí, Vivian, Laguna-Salvia, Leonides, Martínez-Godales, Michael, Valdevila Figueira, José A., Bauer, Peter O., Rodríguez-Labrada, Roberto, Zaldívar, Yanetza González, Paucar, Martin, Svenningsson, Per, Pérez, Luís Velázquez
Natura: Artigo
Lingua:Inglês
Pubblicazione: Public Library of Science 2013
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Research Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3735591/
https://ncbi.nlm.nih.gov/pubmed/23936447
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0070560
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