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Combined Dendritic and Axonal Deterioration Are Responsible for Motoneuronopathy in Patient-Derived Neuronal Cell Models of Chorea-Acanthocytosis

Chorea acanthocytosis (ChAc), an ultra-rare devastating neurodegenerative disease, is caused by mutations in the VPS13A gene, which encodes for the protein chorein. Affected patients suffer from chorea, orofacial dyskinesia, epilepsy, parkinsonism as well as peripheral neuropathy. Although medium sp...

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Detalles Bibliográficos
Autores principales: Glaß, Hannes, Neumann, Patrick, Pal, Arun, Reinhardt, Peter, Storch, Alexander, Sterneckert, Jared, Hermann, Andreas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7084777/
https://www.ncbi.nlm.nih.gov/pubmed/32151030
http://dx.doi.org/10.3390/ijms21051797