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Genetic heterogeneity in hypokalemic periodic paralysis (hypoPP).
Plassart E, Elbaz A, Santos JV, Reboul J, Lapie P, Chauveau D, Jurkat-Rott K, Guimaraes J, Saudubray JM, Weissenbach J, et al. Plassart E, et al. Among authors: elbaz a. Hum Genet. 1994 Nov;94(5):551-6. doi: 10.1007/BF00211025. Hum Genet. 1994. PMID: 7959693
A calcium channel mutation causing hypokalemic periodic paralysis.
Jurkat-Rott K, Lehmann-Horn F, Elbaz A, Heine R, Gregg RG, Hogan K, Powers PA, Lapie P, Vale-Santos JE, Weissenbach J, et al. Jurkat-Rott K, et al. Among authors: elbaz a. Hum Mol Genet. 1994 Aug;3(8):1415-9. doi: 10.1093/hmg/3.8.1415. Hum Mol Genet. 1994. PMID: 7987325
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: elbaz 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.
Parkinson's disease polygenic risk score is not associated with impulse control disorders: A longitudinal study.
Ihle J, Artaud F, Bekadar S, Mangone G, Sambin S, Mariani LL, Bertrand H, Rascol O, Durif F, Derkinderen P, Scherzer C, Elbaz A, Corvol JC; DIGPD study group; Steering committee; Statistical analyses; Principal investigators for sites; Co-investigators (alphabetical order); Neuropsychologists; Genetic core; Sponsor activities and clinical research assistants. Ihle J, et al. Among authors: elbaz a. Parkinsonism Relat Disord. 2020 Jun;75:30-33. doi: 10.1016/j.parkreldis.2020.03.017. Epub 2020 May 1. Parkinsonism Relat Disord. 2020. PMID: 32450545
623 results