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...

Popoln opis

Shranjeno v:
Bibliografske podrobnosti
izdano v: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
Format: Artigo
Jezik:Inglês
Izdano: Wolters Kluwer 2020
Teme:
Article
Online dostop: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
Oznake: Označite
Brez oznak, prvi označite!

Podobne knjige/članki