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Altered bioenergetics in primary dermal fibroblasts from adult carriers of the FMR1 premutation before the onset of the neurodegenerative disease Fragile X-associated tremor/ataxia syndrome

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late onset neurodegenerative disorder, characterized by tremors, ataxia, impaired coordination, and cognitive decline. While all FXTAS individuals are carriers of a 55–200 CGG expansion at the 5′ UTR of the fragile X mental retardation gene (F...

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Bibliografiske detaljer
Udgivet i:Cerebellum
Main Authors: Napoli, Eleonora, Song, Gyu, Wong, Sarah, Hagerman, Randi, Giulivi, Cecilia
Format: Artigo
Sprog:Inglês
Udgivet: 2016
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5014718/
https://ncbi.nlm.nih.gov/pubmed/27089882
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s12311-016-0779-8
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