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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Detalhes bibliográficos
Publicado no:Neurol Genet
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Wolters Kluwer 2020
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7073455/
https://ncbi.nlm.nih.gov/pubmed/32211516
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000403
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