Molecular Characterization of Portuguese Patients with Hereditary Cerebellar Ataxia

Hereditary cerebellar ataxia (HCA) comprises a clinical and genetic heterogeneous group of neurodegenerative disorders characterized by incoordination of movement, speech, and unsteady gait. In this study, we performed whole-exome sequencing (WES) in 19 families with HCA and presumed autosomal reces...

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Detalles Bibliográficos
Autores principales: Santos, Mariana, Damásio, Joana, Carmona, Susana, Neto, João Luís, Dehghani, Nadia, Guedes, Leonor Correia, Barbot, Clara, Barros, José, Brás, José, Sequeiros, Jorge, Guerreiro, Rita
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8946949/
https://www.ncbi.nlm.nih.gov/pubmed/35326432
http://dx.doi.org/10.3390/cells11060981

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8946949/
https://www.ncbi.nlm.nih.gov/pubmed/35326432
http://dx.doi.org/10.3390/cells11060981

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