Prodromal Markers of Upper Limb Deficits in FMR1 Premutation Carriers and Quantitative Outcome Measures for Future Clinical Trials in Fragile X‐associated Tremor/Ataxia Syndrome

BACKGROUND: Fragile X‐associated Tremor/Ataxia Syndrome (FXTAS) is a rare, late‐onset neurodegenerative disorder characterized by tremor and cerebellar gait ataxia, affecting premutation carriers (PMC) of CGG expansions (range, 55–200) in the fragile X mental retardation 1 (FMR1) gene. Discovery of...

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Detalhes bibliográficos
Publicado no:Mov Disord Clin Pract
Main Authors: O'Keefe, Joan A., Bang, Deborah, Robertson, Erin E., Biskis, Alexandras, Ouyang, Bichun, Liu, Yuanqing, Pal, Gian, Berry‐Kravis, Elizabeth, Hall, Deborah A.
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley & Sons, Inc. 2020
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Research Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7533995/
https://ncbi.nlm.nih.gov/pubmed/33043077
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mdc3.13045
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