Update on the Clinical, Radiographic, and Neurobehavioral Manifestations in FXTAS and FMR1 Premutation Carriers

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a progressive neurodegenerative disorder caused by a repeat expansion in the fragile X mental retardation 1 (FMR1) gene. The disorder is characterized by kinetic tremor and cerebellar ataxia, shows age-dependent penetrance, and occurs more frequ...

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Pubblicato in:Cerebellum
Autori principali: Hall, Deborah A., Robertson, Erin, Shelton, Annie L., Losh, Molly C., Mila, Montserrat, Moreno, Esther Granell, Gomez-Anson, Beatriz, Martínez-Cerdeño, Verónica, Grigsby, Jim, Lozano, Reymundo, Hagerman, Randi, Maria, Lorena Santa, Berry-Kravis, Elizabeth, O’Keefe, Joan A.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2016
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7608648/
https://ncbi.nlm.nih.gov/pubmed/27287737
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s12311-016-0799-4
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