Identification of PSMB5 as a genetic modifier of fragile X–associated tremor/ataxia syndrome

Fragile X–associated tremor/ataxia syndrome (FXTAS) is a debilitating late-onset neurodegenerative disease in premutation carriers of the expanded CGG repeat in FMR1 that presents with a spectrum of neurological manifestations, such as gait ataxia, intention tremor, and parkinsonism [P. J. Hagerman,...

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Detalles Bibliográficos
Autores principales: Kong, Ha Eun, Lim, Junghwa, Linsalata, Alexander, Kang, Yunhee, Malik, Indranil, Allen, Emily G., Cao, Yiqu, Shubeck, Lisa, Johnston, Rich, Huang, Yanting, Gu, Yanghong, Guo, Xiangxue, Zwick, Michael E., Qin, Zhaohui, Wingo, Thomas S., Juncos, Jorge, Nelson, David L., Epstein, Michael P., Cutler, David J., Todd, Peter K., Sherman, Stephanie L., Warren, Stephen T., Jin, Peng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: National Academy of Sciences 2022
Materias:
Biological Sciences
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9295734/
https://www.ncbi.nlm.nih.gov/pubmed/35617426
http://dx.doi.org/10.1073/pnas.2118124119

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