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Page 1
Genetic modifiers of risk and age at onset in GBA associated Parkinson's disease and Lewy body dementia.
Blauwendraat C, Reed X, Krohn L, Heilbron K, Bandres-Ciga S, Tan M, Gibbs JR, Hernandez DG, Kumaran R, Langston R, Bonet-Ponce L, Alcalay RN, Hassin-Baer S, Greenbaum L, Iwaki H, Leonard HL, Grenn FP, Ruskey JA, Sabir M, Ahmed S, Makarious MB, Pihlstrøm L, Toft M, van Hilten JJ, Marinus J, Schulte C, Brockmann K, Sharma M, Siitonen A, Majamaa K, Eerola-Rautio J, Tienari PJ; 23andMe Research Team; Pantelyat A, Hillis AE, Dawson TM, Rosenthal LS, Albert MS, Resnick SM, Ferrucci L, Morris CM, Pletnikova O, Troncoso J, Grosset D, Lesage S, Corvol JC, Brice A, Noyce AJ, Masliah E, Wood N, Hardy J, Shulman LM, Jankovic J, Shulman JM, Heutink P, Gasser T, Cannon P, Scholz SW, Morris H, Cookson MR, Nalls MA, Gan-Or Z, Singleton AB. Blauwendraat C, et al. Among authors: lesage s. Brain. 2020 Jan 1;143(1):234-248. doi: 10.1093/brain/awz350. Brain. 2020. PMID: 31755958 Free PMC article.
A new F-box protein 7 gene mutation causing typical Parkinson's disease.
Lohmann E, Coquel AS, Honoré A, Gurvit H, Hanagasi H, Emre M, Leutenegger AL, Drouet V, Sahbatou M, Guven G, Erginel-Unaltuna N, Deleuze JF, Lesage S, Brice A. Lohmann E, et al. Among authors: lesage s. Mov Disord. 2015 Jul;30(8):1130-3. doi: 10.1002/mds.26266. Epub 2015 May 23. Mov Disord. 2015. PMID: 26010069
CHCHD2 and Parkinson's disease.
Jansen IE, Bras JM, Lesage S, Schulte C, Gibbs JR, Nalls MA, Brice A, Wood NW, Morris H, Hardy JA, Singleton AB, Gasser T, Heutink P, Sharma M; IPDGC. Jansen IE, et al. Among authors: lesage s. Lancet Neurol. 2015 Jul;14(7):678-9. doi: 10.1016/S1474-4422(15)00094-0. Lancet Neurol. 2015. PMID: 26067110 Free article. No abstract available.
Diagnosis of Parkinson's disease on the basis of clinical and genetic classification: a population-based modelling study.
Nalls MA, McLean CY, Rick J, Eberly S, Hutten SJ, Gwinn K, Sutherland M, Martinez M, Heutink P, Williams NM, Hardy J, Gasser T, Brice A, Price TR, Nicolas A, Keller MF, Molony C, Gibbs JR, Chen-Plotkin A, Suh E, Letson C, Fiandaca MS, Mapstone M, Federoff HJ, Noyce AJ, Morris H, Van Deerlin VM, Weintraub D, Zabetian C, Hernandez DG, Lesage S, Mullins M, Conley ED, Northover CA, Frasier M, Marek K, Day-Williams AG, Stone DJ, Ioannidis JP, Singleton AB; Parkinson's Disease Biomarkers Program and Parkinson's Progression Marker Initiative investigators. Nalls MA, et al. Among authors: lesage s. Lancet Neurol. 2015 Oct;14(10):1002-9. doi: 10.1016/S1474-4422(15)00178-7. Epub 2015 Aug 10. Lancet Neurol. 2015. PMID: 26271532 Free PMC article.
Large-scale assessment of polyglutamine repeat expansions in Parkinson disease.
Wang L, Aasly JO, Annesi G, Bardien S, Bozi M, Brice A, Carr J, Chung SJ, Clarke C, Crosiers D, Deutschländer A, Eckstein G, Farrer MJ, Goldwurm S, Garraux G, Hadjigeorgiou GM, Hicks AA, Hattori N, Klein C, Jeon B, Kim YJ, Lesage S, Lin JJ, Lynch T, Lichtner P, Lang AE, Mok V, Jasinska-Myga B, Mellick GD, Morrison KE, Opala G, Pihlstrøm L, Pramstaller PP, Park SS, Quattrone A, Rogaeva E, Ross OA, Stefanis L, Stockton JD, Silburn PA, Theuns J, Tan EK, Tomiyama H, Toft M, Van Broeckhoven C, Uitti RJ, Wirdefeldt K, Wszolek Z, Xiromerisiou G, Yueh KC, Zhao Y, Gasser T, Maraganore DM, Krüger R, Sharma M; GEO-PD Consortium. Wang L, et al. Among authors: lesage s. Neurology. 2015 Oct 13;85(15):1283-92. doi: 10.1212/WNL.0000000000002016. Epub 2015 Sep 9. Neurology. 2015. PMID: 26354989 Free PMC article.
A systematic screening to identify de novo mutations causing sporadic early-onset Parkinson's disease.
Kun-Rodrigues C, Ganos C, Guerreiro R, Schneider SA, Schulte C, Lesage S, Darwent L, Holmans P, Singleton A; International Parkinson's Disease Genomics Consortium (IPDGC); Bhatia K, Bras J. Kun-Rodrigues C, et al. Among authors: lesage s. Hum Mol Genet. 2015 Dec 1;24(23):6711-20. doi: 10.1093/hmg/ddv376. Epub 2015 Sep 11. Hum Mol Genet. 2015. PMID: 26362251 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: lesage s. 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.
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. 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.
PINK1 and FLNA mutations association: A role for atypical parkinsonism?
Degos B, Toussaint A, Lesage S, Brice A, Vidailhet M, Beldjord C, Catala M. Degos B, et al. Among authors: lesage s. Parkinsonism Relat Disord. 2016 May;26:78-80. doi: 10.1016/j.parkreldis.2016.02.023. Epub 2016 Mar 2. Parkinsonism Relat Disord. 2016. PMID: 26969111 No abstract available.
Deletions at 22q11.2 in idiopathic Parkinson's disease: a combined analysis of genome-wide association data.
Mok KY, Sheerin U, Simón-Sánchez J, Salaka A, Chester L, Escott-Price V, Mantripragada K, Doherty KM, Noyce AJ, Mencacci NE, Lubbe SJ; International Parkinson's Disease Genomics Consortium (IPDGC); Williams-Gray CH, Barker RA, van Dijk KD, Berendse HW, Heutink P, Corvol JC, Cormier F, Lesage S, Brice A, Brockmann K, Schulte C, Gasser T, Foltynie T, Limousin P, Morrison KE, Clarke CE, Sawcer S, Warner TT, Lees AJ, Morris HR, Nalls MA, Singleton AB, Hardy J, Abramov AY, Plagnol V, Williams NM, Wood NW. Mok KY, et al. Among authors: lesage s. Lancet Neurol. 2016 May;15(6):585-96. doi: 10.1016/S1474-4422(16)00071-5. Epub 2016 Mar 24. Lancet Neurol. 2016. PMID: 27017469 Free PMC article.
403 results