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...

Descripción completa

Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3735591/
https://www.ncbi.nlm.nih.gov/pubmed/23936447
http://dx.doi.org/10.1371/journal.pone.0070560

Ejemplares similares

Ejemplares similares