Longitudinal Evaluation of Cerebellar Signs of H-ABC Tubulinopathy in a Patient and in the taiep Model

Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) is a central neurodegenerative disease due to mutations in the tubulin beta-4A (TUBB4A) gene, characterized by motor development delay, abnormal movements, ataxia, spasticity, dysarthria, and cognitive deficits. Diagnosis is ma...

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Detalles Bibliográficos
Autores principales: Alata, Milvia, González-Vega, Arturo, Piazza, Valeria, Kleinert-Altamirano, Anke, Cortes, Carmen, Ahumada-Juárez, Juan C., Eguibar, Jose R., López-Juárez, Alejandra, Hernandez, Victor H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8317997/
https://www.ncbi.nlm.nih.gov/pubmed/34335454
http://dx.doi.org/10.3389/fneur.2021.702039

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8317997/
https://www.ncbi.nlm.nih.gov/pubmed/34335454
http://dx.doi.org/10.3389/fneur.2021.702039

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