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Procopio, Radha; Gagliardi, Monica; Nicoletti, Giuseppe; Morelli, Maurizio; Annesi, Grazia; Quattrone, Aldo
Journal of the neurological sciences, 09/2019, Letnik: 404Journal Article
•Parkinson’s disease (PD) is the second most common neurodegenerative disorder.•Recently, Deng et al. identified a new gene (TMEM230) in a large Canadian Mennonite family with PD.•We evaluate the presence of TMEM230 mutations in a cohort of 168 familial PD and 500 control subjects from South Italy.•We found a rare missense variant (p.Ile125Met) in a 64-years old woman and four synonymous variant in our population.•Other studies are needed to clarify the role of the TMEM230 gene in the pathogenesis of Parkinson’s disease.
