Epidemiological, clinical, and molecular characterization of Cuban families with spinocerebellar ataxia type 3/Machado-Joseph disease

BACKGROUND: Spinocerebellar Ataxia Type 3/Machado-Joseph Disease (SCA3/MJD) is a hereditary neurodegenerative disorder resulting from the expansion of CAG repeats in the ATXN3 gene. It is the most common autosomal dominant ataxia in the world, but its frequency prevalence in Cuba remains uncertain....

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Sparad:
Bibliografiska uppgifter
I publikationen:Cerebellum Ataxias
Huvudupphovsmän: González-Zaldívar, Yanetza, Vázquez-Mojena, Yaimeé, Laffita-Mesa, José M, Almaguer-Mederos, Luis E, Rodríguez-Labrada, Roberto, Sánchez-Cruz, Gilberto, Aguilera-Rodríguez, Raúl, Cruz-Mariño, Tania, Canales-Ochoa, Nalia, MacLeod, Patrick, Velázquez-Pérez, Luis
Materialtyp: Artigo
Språk:Inglês
Publicerad: BioMed Central 2015
Ämnen:
Research
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC4552099/
https://ncbi.nlm.nih.gov/pubmed/26331044
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s40673-015-0020-4
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