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Page 1
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: silburn pa. 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. Among authors: silburn pa. 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.
Population-specific frequencies for LRRK2 susceptibility variants in the Genetic Epidemiology of Parkinson's Disease (GEO-PD) Consortium.
Heckman MG, Soto-Ortolaza AI, Aasly JO, Abahuni N, Annesi G, Bacon JA, Bardien S, Bozi M, Brice A, Brighina L, Carr J, Chartier-Harlin MC, Dardiotis E, Dickson DW, Diehl NN, Elbaz A, Ferrarese C, Fiske B, Gibson JM, Gibson R, Hadjigeorgiou GM, Hattori N, Ioannidis JP, Boczarska-Jedynak M, 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, Petrucci S, Puschmann A, Quattrone A, Sharma M, Silburn PA, Sohn YH, Stefanis L, Tadic V, Theuns J, Tomiyama H, Uitti RJ, Valente EM, Van Broeckhoven C, van de Loo S, Vassilatis DK, Vilariño-Güell C, White LR, Wirdefeldt K, Wszolek ZK, Wu RM, Hentati F, Farrer MJ, Ross OA; Genetic Epidemiology of Parkinson's Disease (GEO-PD) Consortium. Heckman MG, et al. Among authors: silburn pa. Mov Disord. 2013 Oct;28(12):1740-4. doi: 10.1002/mds.25600. Epub 2013 Aug 2. Mov Disord. 2013. PMID: 23913756 Free PMC article.
Evaluation of the interaction between LRRK2 and PARK16 loci in determining risk of Parkinson's disease: analysis of a large multicenter study.
Wang L, Heckman MG, Aasly JO, Annesi G, Bozi M, Chung SJ, Clarke C, Crosiers D, Eckstein G, Garraux G, Hadjigeorgiou GM, Hattori N, Jeon B, Kim YJ, Kubo M, Lesage S, Lin JJ, Lynch T, Lichtner P, Mellick GD, Mok V, Morrison KE, Quattrone A, Satake W, Silburn PA, Stefanis L, Stockton JD, Tan EK, Toda T, Brice A, Van Broeckhoven C, Uitti RJ, Wirdefeldt K, Wszolek Z, Xiromerisiou G, Maraganore DM, Gasser T, Krüger R, Farrer MJ, Ross OA, Sharma M; GEOPD Consortium. Wang L, et al. Among authors: silburn pa. Neurobiol Aging. 2017 Jan;49:217.e1-217.e4. doi: 10.1016/j.neurobiolaging.2016.09.022. Epub 2016 Oct 6. Neurobiol Aging. 2017. PMID: 27814993 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: silburn pa. 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: silburn pa. 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
Identification of genetic modifiers of age-at-onset for familial Parkinson's disease.
Hill-Burns EM, Ross OA, Wissemann WT, Soto-Ortolaza AI, Zareparsi S, Siuda J, Lynch T, Wszolek ZK, Silburn PA, Mellick GD, Ritz B, Scherzer CR, Zabetian CP, Factor SA, Breheny PJ, Payami H. Hill-Burns EM, et al. Among authors: silburn pa. Hum Mol Genet. 2016 Sep 1;25(17):3849-3862. doi: 10.1093/hmg/ddw206. Epub 2016 Jul 11. Hum Mol Genet. 2016. PMID: 27402877 Free PMC article.
Heterozygous PINK1 p.G411S increases risk of Parkinson's disease via a dominant-negative mechanism.
Puschmann A, Fiesel FC, Caulfield TR, Hudec R, Ando M, Truban D, Hou X, Ogaki K, Heckman MG, James ED, Swanberg M, Jimenez-Ferrer I, Hansson O, Opala G, Siuda J, Boczarska-Jedynak M, Friedman A, Koziorowski D, Rudzińska-Bar M, Aasly JO, Lynch T, Mellick GD, Mohan M, Silburn PA, Sanotsky Y, Vilariño-Güell C, Farrer MJ, Chen L, Dawson VL, Dawson TM, Wszolek ZK, Ross OA, Springer W. Puschmann A, et al. Among authors: silburn pa. Brain. 2017 Jan;140(1):98-117. doi: 10.1093/brain/aww261. Epub 2016 Nov 2. Brain. 2017. PMID: 27807026 Free PMC article.
Large-scale replication and heterogeneity in Parkinson disease genetic loci.
Sharma M, Ioannidis JP, Aasly JO, Annesi G, Brice A, Van Broeckhoven C, Bertram L, Bozi M, Crosiers D, Clarke C, Facheris M, Farrer M, Garraux G, Gispert S, Auburger G, Vilariño-Güell C, Hadjigeorgiou GM, Hicks AA, Hattori N, Jeon B, Lesage S, Lill CM, Lin JJ, Lynch T, Lichtner P, Lang AE, Mok V, Jasinska-Myga B, Mellick GD, Morrison KE, Opala G, Pramstaller PP, Pichler I, Park SS, Quattrone A, Rogaeva E, Ross OA, Stefanis L, Stockton JD, Satake W, Silburn PA, Theuns J, Tan EK, Toda T, Tomiyama H, Uitti RJ, Wirdefeldt K, Wszolek Z, Xiromerisiou G, Yueh KC, Zhao Y, Gasser T, Maraganore D, Krüger R; GEO-PD Consortium. Sharma M, et al. Among authors: silburn pa. Neurology. 2012 Aug 14;79(7):659-67. doi: 10.1212/WNL.0b013e318264e353. Epub 2012 Jul 11. Neurology. 2012. PMID: 22786590 Free PMC article.
223 results