Characterization of the phenotype with cognitive impairment and protein mislocalization in SCA34

OBJECTIVE: To better characterize the neurologic and cognitive profile of patients with spinocerebellar ataxia 34 (SCA34) caused by ELOVL4 mutations and to demonstrate the presence of ELOVL4 cellular localization and distribution abnormalities in skin-derived fibroblasts. METHODS: We investigated a...

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Detalles Bibliográficos
Autores principales: Beaudin, Marie, Sellami, Leila, Martel, Christian, Touzel-Deschênes, Lydia, Houle, Gabrielle, Martineau, Laurence, Lacroix, Kevin, Lavallée, Andréane, Chrestian, Nicolas, Rouleau, Guy A., Gros-Louis, François, Laforce, Robert, Dupré, Nicolas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7073455/
https://www.ncbi.nlm.nih.gov/pubmed/32211516
http://dx.doi.org/10.1212/NXG.0000000000000403

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7073455/
https://www.ncbi.nlm.nih.gov/pubmed/32211516
http://dx.doi.org/10.1212/NXG.0000000000000403

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