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Current research, diagnosis, and treatment of fragile X-associated tremor/ataxia syndrome
Fragile X-associated tremor/ataxia syndrome (FXTAS) is caused by a premutation CGG-repeat expansion in the 5′UTR of the fragile X mental retardation 1 (FMR1) gene. The classical clinical manifestations include tremor, cerebellar ataxia, cognitive decline and psychiatric disorders. Other less frequen...
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| Publicat a: | Intractable Rare Dis Res |
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| Autors principals: | , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
International Research and Cooperation Association for Bio & Socio-Sciences Advancement
2014
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4298640/ https://ncbi.nlm.nih.gov/pubmed/25606360 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5582/irdr.2014.01029 |
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