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Whole-exome sequencing associates novel CSMD1 gene mutations with familial Parkinson disease

OBJECTIVE: Despite the enormous advancements made in deciphering the genetic architecture of Parkinson disease (PD), the majority of PD is idiopathic, with single gene mutations explaining only a small proportion of the cases. METHODS: In this study, we clinically evaluated 2 unrelated Spanish famil...

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Detalles Bibliográficos
Autores principales:	Ruiz-Martínez, Javier, Azcona, Luis J., Bergareche, Alberto, Martí-Massó, Jose F., Paisán-Ruiz, Coro
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer 2017
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5540655/ https://www.ncbi.nlm.nih.gov/pubmed/28808687 http://dx.doi.org/10.1212/NXG.0000000000000177

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