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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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Intractable Rare Dis Res
Egile Nagusiak: Muzar, Zukhrofi, Lozano, Reymundo
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: International Research and Cooperation Association for Bio & Socio-Sciences Advancement 2014
Gaiak:
Sarrera elektronikoa: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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