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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...
Autores principales: | Sellier, Chantal, Usdin, Karen, Pastori, Chiara, Peschansky, Veronica J, Tassone, Flora, Charlet-Berguerand, Nicolas |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2014
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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 |
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