Neuropathological, Clinical, and Molecular Pathology in Female Fragile X Premutation Carriers with and without FXTAS

Fragile X-associated tremor/ataxia syndrome (FXTAS) is an adult-onset neurodegenerative disorder associated with premutation alleles of the fragile X mental retardation 1 (FMR1) gene. Approximately 40% of older male premutation carriers, and a smaller proportion of females, are affected by FXTAS; du...

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Auteurs principaux: Tassone, Flora, Greco, Claudia M., Hunsaker, Michael R., Seritan, Andreea L., Berman, Robert F., Gane, Louise W., Jacquemont, Sebastien, Basuta, Kirin, Jin, Lee-Way, Hagerman, Paul J., Hagerman, Randi J.
Format: Artigo
Langue:Inglês
Publié: 2012
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3965773/
https://ncbi.nlm.nih.gov/pubmed/22463693
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1601-183X.2012.00779.x
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