The RAB39B p.G192R mutation causes X-linked dominant Parkinson’s disease

OBJECTIVE: To identify the causal gene in a multi-incident U.S. kindred with Parkinson’s disease (PD). METHODS: We characterized a family with a classical PD phenotype in which 7 individuals (5 males and 2 females) were affected with a mean age at onset of 46.1 years (range, 29-57 years). We perform...

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Detalhes bibliográficos
Publicado no:Mol Neurodegener
Main Authors: Mata, Ignacio F., Jang, Yongwoo, Kim, Chun-Hyung, Hanna, David S., Dorschner, Michael O., Samii, Ali, Agarwal, Pinky, Roberts, John W., Klepitskaya, Olga, Shprecher, David R., Chung, Kathryn A., Factor, Stewart A., Espay, Alberto J., Revilla, Fredy J., Higgins, Donald S., Litvan, Irene, Leverenz, James B., Yearout, Dora, Inca-Martinez, Miguel, Martinez, Erica, Thompson, Tiffany R., Cholerton, Brenna A., Hu, Shu-Ching, Edwards, Karen L., Kim, Kwang-Soo, Zabetian, Cyrus P.
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2015
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4581468/
https://ncbi.nlm.nih.gov/pubmed/26399558
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13024-015-0045-4
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