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Protective effect of LRRK2 p.R1398H on risk of Parkinson's disease is independent of MAPT and SNCA variants.
Heckman MG, Elbaz A, Soto-Ortolaza AI, Serie DJ, Aasly JO, Annesi G, Auburger G, Bacon JA, Boczarska-Jedynak M, Bozi M, Brighina L, Chartier-Harlin MC, Dardiotis E, Destée A, Ferrarese C, Ferraris A, Fiske B, Gispert S, Hadjigeorgiou GM, Hattori N, Ioannidis JP, Jasinska-Myga B, Jeon BS, Kim YJ, Klein C, Kruger R, Kyratzi E, Lin CH, Lohmann K, Loriot MA, Lynch T, Mellick GD, Mutez E, Opala G, Park SS, Petrucci S, Quattrone A, Sharma M, Silburn PA, Sohn YH, Stefanis L, Tadic V, Tomiyama H, Uitti RJ, Valente EM, Vassilatis DK, Vilariño-Güell C, White LR, Wirdefeldt K, Wszolek ZK, Wu RM, Xiromerisiou G, Maraganore DM, Farrer MJ, Ross OA; Genetic Epidemiology Of Parkinson's Disease (GEO-PD) Consortium. Heckman MG, et al. Among authors: destee a. Neurobiol Aging. 2014 Jan;35(1):266.e5-14. doi: 10.1016/j.neurobiolaging.2013.07.013. Epub 2013 Aug 17. Neurobiol Aging. 2014. PMID: 23962496 Free PMC article.
Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study.
Ross OA, Soto-Ortolaza AI, Heckman MG, Aasly JO, Abahuni N, Annesi G, Bacon JA, Bardien S, Bozi M, Brice A, Brighina L, Van Broeckhoven C, Carr J, Chartier-Harlin MC, Dardiotis E, Dickson DW, Diehl NN, Elbaz A, Ferrarese C, Ferraris A, Fiske B, Gibson JM, Gibson R, Hadjigeorgiou GM, Hattori N, Ioannidis JP, Jasinska-Myga B, Jeon BS, Kim YJ, Klein C, Kruger R, Kyratzi E, Lesage S, Lin CH, Lynch T, Maraganore DM, Mellick GD, Mutez E, Nilsson C, Opala G, Park SS, Puschmann A, Quattrone A, Sharma M, Silburn PA, Sohn YH, Stefanis L, Tadic V, Theuns J, Tomiyama H, Uitti RJ, Valente EM, van de Loo S, Vassilatis DK, Vilariño-Güell C, White LR, Wirdefeldt K, Wszolek ZK, Wu RM, Farrer MJ; Genetic Epidemiology Of Parkinson's Disease (GEO-PD) Consortium. Ross OA, et al. Lancet Neurol. 2011 Oct;10(10):898-908. doi: 10.1016/S1474-4422(11)70175-2. Epub 2011 Aug 30. Lancet Neurol. 2011. PMID: 21885347 Free PMC article.
Independent and joint effects of the MAPT and SNCA genes in Parkinson disease.
Elbaz A, Ross OA, Ioannidis JP, Soto-Ortolaza AI, Moisan F, Aasly J, Annesi G, Bozi M, Brighina L, Chartier-Harlin MC, Destée A, Ferrarese C, Ferraris A, Gibson JM, Gispert S, Hadjigeorgiou GM, Jasinska-Myga B, Klein C, Krüger R, Lambert JC, Lohmann K, van de Loo S, Loriot MA, Lynch T, Mellick GD, Mutez E, Nilsson C, Opala G, Puschmann A, Quattrone A, Sharma M, Silburn PA, Stefanis L, Uitti RJ, Valente EM, Vilariño-Güell C, Wirdefeldt K, Wszolek ZK, Xiromerisiou G, Maraganore DM, Farrer MJ; Genetic Epidemiology of Parkinson's Disease (GEO-PD) Consortium. Elbaz A, et al. Among authors: destee a. Ann Neurol. 2011 May;69(5):778-92. doi: 10.1002/ana.22321. Epub 2011 Mar 9. Ann Neurol. 2011. PMID: 21391235 Free PMC article.
Role of sepiapterin reductase gene at the PARK3 locus in Parkinson's disease.
Sharma M, Maraganore DM, Ioannidis JP, Riess O, Aasly JO, Annesi G, Abahuni N, Bentivoglio AR, Brice A, Van Broeckhoven C, Chartier-Harlin MC, Destée A, Djarmati A, Elbaz A, Farrer M, Ferrarese C, Gibson JM, Gispert S, Hattori N, Jasinska-Myga B, Klein C, Lesage S, Lynch T, Lichtner P, Lambert JC, Lang AE, Mellick GD, De Nigris F, Opala G, Quattrone A, Riva C, Rogaeva E, Ross OA, Satake W, Silburn PA, Theuns J, Toda T, Tomiyama H, Uitti RJ, Wirdefeldt K, Wszolek Z, Gasser T, Krüger R; Genetic Epidemiology of Parkinson's Disease Consortium. Sharma M, et al. Among authors: destee a. Neurobiol Aging. 2011 Nov;32(11):2108.e1-5. doi: 10.1016/j.neurobiolaging.2011.05.024. Epub 2011 Jul 22. Neurobiol Aging. 2011. PMID: 21782285
Involvement of the immune system, endocytosis and EIF2 signaling in both genetically determined and sporadic forms of Parkinson's disease.
Mutez E, Nkiliza A, Belarbi K, de Broucker A, Vanbesien-Mailliot C, Bleuse S, Duflot A, Comptdaer T, Semaille P, Blervaque R, Hot D, Leprêtre F, Figeac M, Destée A, Chartier-Harlin MC. Mutez E, et al. Among authors: destee a. Neurobiol Dis. 2014 Mar;63:165-70. doi: 10.1016/j.nbd.2013.11.007. Epub 2013 Nov 20. Neurobiol Dis. 2014. PMID: 24269915
No pathogenic mutations in the beta-synuclein gene in Parkinson's disease.
Lincoln S, Crook R, Chartier-Harlin MC, Gwinn-Hardy K, Baker M, Mouroux V, Richard F, Becquet E, Amouyel P, Destée A, Hardy J, Farrer M. Lincoln S, et al. Among authors: destee a. Neurosci Lett. 1999 Jul 9;269(2):107-9. doi: 10.1016/s0304-3940(99)00420-6. Neurosci Lett. 1999. PMID: 10430516
Transcriptional profile of Parkinson blood mononuclear cells with LRRK2 mutation.
Mutez E, Larvor L, Leprêtre F, Mouroux V, Hamalek D, Kerckaert JP, Pérez-Tur J, Waucquier N, Vanbesien-Mailliot C, Duflot A, Devos D, Defebvre L, Kreisler A, Frigard B, Destée A, Chartier-Harlin MC. Mutez E, et al. Among authors: destee a. Neurobiol Aging. 2011 Oct;32(10):1839-48. doi: 10.1016/j.neurobiolaging.2009.10.016. Epub 2010 Jan 22. Neurobiol Aging. 2011. PMID: 20096956
SNCA locus duplication carriers: from genetics to Parkinson disease phenotypes.
Mutez E, Leprêtre F, Le Rhun E, Larvor L, Duflot A, Mouroux V, Kerckaert JP, Figeac M, Dujardin K, Destée A, Chartier-Harlin MC. Mutez E, et al. Among authors: destee a. Hum Mutat. 2011 Apr;32(4):E2079-90. doi: 10.1002/humu.21459. Epub 2011 Feb 8. Hum Mutat. 2011. PMID: 21412942
Centrosomal cohesion deficits as cellular biomarker in lymphoblastoid cell lines from LRRK2 Parkinson's disease patients.
Fernández B, Lara Ordóñez AJ, Fdez E, Mutez E, Comptdaer T, Leghay C, Kreisler A, Simonin C, Vandewynckel L, Defebvre L, Destée A, Bleuse S, Taymans JM, Chartier-Harlin MC, Hilfiker S. Fernández B, et al. Among authors: destee a. Biochem J. 2019 Oct 15;476(19):2797-2813. doi: 10.1042/BCJ20190315. Biochem J. 2019. PMID: 31527116 Free PMC article.
Frequency of Loss of Function Variants in LRRK2 in Parkinson Disease.
Blauwendraat C, Reed X, Kia DA, Gan-Or Z, Lesage S, Pihlstrøm L, Guerreiro R, Gibbs JR, Sabir M, Ahmed S, Ding J, Alcalay RN, Hassin-Baer S, Pittman AM, Brooks J, Edsall C, Hernandez DG, Chung SJ, Goldwurm S, Toft M, Schulte C, Bras J, Wood NW, Brice A, Morris HR, Scholz SW, Nalls MA, Singleton AB, Cookson MR; COURAGE-PD (Comprehensive Unbiased Risk Factor Assessment for Genetics and Environment in Parkinson’s Disease) Consortium, the French Parkinson’s Disease Consortium, and the International Parkinson’s Disease Genomics Consortium (IPDGC). Blauwendraat C, et al. JAMA Neurol. 2018 Nov 1;75(11):1416-1422. doi: 10.1001/jamaneurol.2018.1885. JAMA Neurol. 2018. PMID: 30039155 Free PMC article.
466 results