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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...
| Autores principales: | , , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Wolters Kluwer
2020
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| Materias: | |
| 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 |