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Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS): Pathophysiology and Clinical Implications

The fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder seen in older premutation (55–200 CGG repeats) carriers of FMR1. The premutation has excessive levels of FMR1 mRNA that lead to toxicity and mitochondrial dysfunction. The clinical features usually begin in the 6...

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Detalhes bibliográficos
Publicado no:Int J Mol Sci
Main Authors: Cabal-Herrera, Ana Maria, Tassanakijpanich, Nattaporn, Salcedo-Arellano, Maria Jimena, Hagerman, Randi J.
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI 2020
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7352421/
https://ncbi.nlm.nih.gov/pubmed/32575683
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms21124391
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