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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Argitaratua izan da:Mol Neurodegener
Egile Nagusiak: 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.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: BioMed Central 2015
Gaiak:
Research Article
Sarrera elektronikoa: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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