Evaluation of AQP4 functional variants and its association with fragile X-associated tremor/ataxia syndrome

INTRODUCTION: Fragile X-associated tremor/ataxia syndrome (FXTAS, OMIM# 300623) is a late-onset neurodegenerative disorder with reduced penetrance that appears in adult FMR1 premutation carriers (55–200 CGGs). Clinical symptoms in FXTAS patients usually begin with an action tremor. After that, diffe...

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Detalles Bibliográficos
Autores principales: Elias-Mas, Andrea, Potrony, Miriam, Bague, Jaume, Cutler, David J., Alvarez-Mora, Maria Isabel, Torres, Teresa, Barcos, Tamara, Puig-Butille, Joan Anton, Rubio, Marta, Madrigal, Irene, Puig, Susana, Allen, Emily G., Rodriguez-Revenga, Laia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9853890/
https://www.ncbi.nlm.nih.gov/pubmed/36688175
http://dx.doi.org/10.3389/fnagi.2022.1073258

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9853890/
https://www.ncbi.nlm.nih.gov/pubmed/36688175
http://dx.doi.org/10.3389/fnagi.2022.1073258

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