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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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Dettagli Bibliografici
Pubblicato in:Int J Mol Sci
Autori principali: Glaß, Hannes, Neumann, Patrick, Pal, Arun, Reinhardt, Peter, Storch, Alexander, Sterneckert, Jared, Hermann, Andreas
Natura: Artigo
Lingua:Inglês
Pubblicazione: MDPI 2020
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7084777/
https://ncbi.nlm.nih.gov/pubmed/32151030
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms21051797
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