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Insufficient evidence for pathogenicity of SNCA His50Gln (H50Q) in Parkinson's disease.
Blauwendraat C, Kia DA, Pihlstrøm L, Gan-Or Z, Lesage S, Gibbs JR, Ding J, Alcalay RN, Hassin-Baer S, Pittman AM, Brooks J, Edsall C, Chung SJ, Goldwurm S, Toft M, Schulte C; International Parkinson's Disease Genomics Consortium (IPDGC), COURAGE-PD Consortium; Hernandez D, Singleton AB, Nalls MA, Brice A, Scholz SW, Wood NW. Blauwendraat C, et al. Among authors: toft m. Neurobiol Aging. 2018 Apr;64:159.e5-159.e8. doi: 10.1016/j.neurobiolaging.2017.12.012. Epub 2017 Dec 20. Neurobiol Aging. 2018. PMID: 29398121 Free PMC article.
Genetic variability in SNCA and Parkinson's disease.
Pihlstrøm L, Toft M. Pihlstrøm L, et al. Among authors: toft m. Neurogenetics. 2011 Nov;12(4):283-93. doi: 10.1007/s10048-011-0292-7. Epub 2011 Jul 29. Neurogenetics. 2011. PMID: 21800132 Review.
Supportive evidence for 11 loci from genome-wide association studies in Parkinson's disease.
Pihlstrøm L, Axelsson G, Bjørnarå KA, Dizdar N, Fardell C, Forsgren L, Holmberg B, Larsen JP, Linder J, Nissbrandt H, Tysnes OB, Ohman E, Dietrichs E, Toft M. Pihlstrøm L, et al. Among authors: toft m. Neurobiol Aging. 2013 Jun;34(6):1708.e7-13. doi: 10.1016/j.neurobiolaging.2012.10.019. Epub 2012 Nov 13. Neurobiol Aging. 2013. PMID: 23153929
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. 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.
Fine mapping and resequencing of the PARK16 locus in Parkinson's disease.
Pihlstrøm L, Rengmark A, Bjørnarå KA, Dizdar N, Fardell C, Forsgren L, Holmberg B, Larsen JP, Linder J, Nissbrandt H, Tysnes OB, Dietrichs E, Toft M. Pihlstrøm L, et al. Among authors: toft m. J Hum Genet. 2015 Jul;60(7):357-62. doi: 10.1038/jhg.2015.34. Epub 2015 Apr 9. J Hum Genet. 2015. PMID: 25855069
The role of TREM2 R47H as a risk factor for Alzheimer's disease, frontotemporal lobar degeneration, amyotrophic lateral sclerosis, and Parkinson's disease.
Lill CM, Rengmark A, Pihlstrøm L, Fogh I, Shatunov A, Sleiman PM, Wang LS, Liu T, Lassen CF, Meissner E, Alexopoulos P, Calvo A, Chio A, Dizdar N, Faltraco F, Forsgren L, Kirchheiner J, Kurz A, Larsen JP, Liebsch M, Linder J, Morrison KE, Nissbrandt H, Otto M, Pahnke J, Partch A, Restagno G, Rujescu D, Schnack C, Shaw CE, Shaw PJ, Tumani H, Tysnes OB, Valladares O, Silani V, van den Berg LH, van Rheenen W, Veldink JH, Lindenberger U, Steinhagen-Thiessen E; SLAGEN Consortium; Teipel S, Perneczky R, Hakonarson H, Hampel H, von Arnim CAF, Olsen JH, Van Deerlin VM, Al-Chalabi A, Toft M, Ritz B, Bertram L. Lill CM, et al. Among authors: toft m. Alzheimers Dement. 2015 Dec;11(12):1407-1416. doi: 10.1016/j.jalz.2014.12.009. Epub 2015 Apr 30. Alzheimers Dement. 2015. PMID: 25936935 Free PMC article.
172 results