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The multiple molecular facets of fragile X-associated tremor/ataxia syndrome

Fragile X-associated tremor/ataxia syndrome (FXTAS) is an adult-onset inherited neurodegenerative disorder characterized by intentional tremor, gait ataxia, autonomic dysfunction, and cognitive decline. FXTAS is caused by the presence of a long CGG repeat tract in the 5′ UTR of the FMR1 gene. In con...

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Detalles Bibliográficos
Autores principales: Sellier, Chantal, Usdin, Karen, Pastori, Chiara, Peschansky, Veronica J, Tassone, Flora, Charlet-Berguerand, Nicolas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4144988/
https://www.ncbi.nlm.nih.gov/pubmed/25161746
http://dx.doi.org/10.1186/1866-1955-6-23