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Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy.
Lesage S, Drouet V, Majounie E, Deramecourt V, Jacoupy M, Nicolas A, Cormier-Dequaire F, Hassoun SM, Pujol C, Ciura S, Erpapazoglou Z, Usenko T, Maurage CA, Sahbatou M, Liebau S, Ding J, Bilgic B, Emre M, Erginel-Unaltuna N, Guven G, Tison F, Tranchant C, Vidailhet M, Corvol JC, Krack P, Leutenegger AL, Nalls MA, Hernandez DG, Heutink P, Gibbs JR, Hardy J, Wood NW, Gasser T, Durr A, Deleuze JF, Tazir M, Destée A, Lohmann E, Kabashi E, Singleton A, Corti O, Brice A; French Parkinson's Disease Genetics Study (PDG); International Parkinson's Disease Genomics Consortium (IPDGC). Lesage S, et al. Among authors: usenko t. Am J Hum Genet. 2016 Mar 3;98(3):500-513. doi: 10.1016/j.ajhg.2016.01.014. Am J Hum Genet. 2016. PMID: 26942284 Free PMC article.
A Novel Nonsense Mutation in DNAJC6 Expands the Phenotype of Autosomal-Recessive Juvenile-Onset Parkinson's Disease.
Elsayed LE, Drouet V, Usenko T, Mohammed IN, Hamed AA, Elseed MA, Salih MA, Koko ME, Mohamed AY, Siddig RA, Elbashir MI, Ibrahim ME, Durr A, Stevanin G, Lesage S, Ahmed AE, Brice A. Elsayed LE, et al. Among authors: usenko t. Ann Neurol. 2016 Feb;79(2):335-7. doi: 10.1002/ana.24591. Epub 2016 Jan 19. Ann Neurol. 2016. PMID: 26703368 No abstract available.
Mutation analysis of Parkinson's disease genes in a Russian data set.
Emelyanov AK, Usenko TS, Tesson C, Senkevich KA, Nikolaev MA, Miliukhina IV, Kopytova AE, Timofeeva AA, Yakimovsky AF, Lesage S, Brice A, Pchelina SN. Emelyanov AK, et al. Neurobiol Aging. 2018 Nov;71:267.e7-267.e10. doi: 10.1016/j.neurobiolaging.2018.06.027. Epub 2018 Jul 9. Neurobiol Aging. 2018. PMID: 30146349
[Mutation del 1,02kb in the CLN3 gene and extrapyramidal syndrome].
Nuzhnyi EP, Yakimovskii AF, Timofeeva AA, Usenko TS, Nikolaev MA, Emelyanov AK, Amosov VI, Bubnova EV, Boukina AM, Zakharova EY, Pchelina SN. Nuzhnyi EP, et al. Among authors: usenko ts. Zh Nevrol Psikhiatr Im S S Korsakova. 2016;116(8):50-53. doi: 10.17116/jnevro20161168150-53. Zh Nevrol Psikhiatr Im S S Korsakova. 2016. PMID: 27635612 Russian.
41 results