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Analysis of common and rare VPS13C variants in late-onset Parkinson disease

OBJECTIVE: We aimed to study the role of coding VPS13C variants in a large cohort of patients with late-onset Parkinson disease (PD) (LOPD). METHODS: VPS13C and its untranslated regions were sequenced using targeted next-generation sequencing in 1,567 patients with PD and 1,667 controls from 3 cohor...

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Detalles Bibliográficos
Autores principales: Rudakou, Uladzislau, Ruskey, Jennifer A., Krohn, Lynne, Laurent, Sandra B., Spiegelman, Dan, Greenbaum, Lior, Yahalom, Gilad, Desautels, Alex, Montplaisir, Jacques Y., Fahn, Stanley, Waters, Cheryl H., Levy, Oren, Kehoe, Caitlin M., Narayan, Sushma, Dauvilliers, Yves, Dupré, Nicolas, Hassin-Baer, Sharon, Alcalay, Roy N., Rouleau, Guy A., Fon, Edward A., Gan-Or, Ziv
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6984134/
https://www.ncbi.nlm.nih.gov/pubmed/32042909
http://dx.doi.org/10.1212/NXG.0000000000000385