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The alpha-synuclein Ala53Thr mutation is not a common cause of familial Parkinson's disease: a study of 230 European cases. European Consortium on Genetic Susceptibility in Parkinson's Disease.
Vaughan J, Durr A, Tassin J, Bereznai B, Gasser T, Bonifati V, De Michele G, Fabrizio E, Volpe G, Bandmann O, Johnson WG, Golbe LI, Breteler M, Meco G, Agid Y, Brice A, Marsden CD, Wood NW. Vaughan J, et al. Among authors: gasser t. Ann Neurol. 1998 Aug;44(2):270-3. doi: 10.1002/ana.410440221. Ann Neurol. 1998. PMID: 9708553
Sequencing of the alpha-synuclein gene in a large series of cases of familial Parkinson's disease fails to reveal any further mutations. The European Consortium on Genetic Susceptibility in Parkinson's Disease (GSPD).
Vaughan JR, Farrer MJ, Wszolek ZK, Gasser T, Durr A, Agid Y, Bonifati V, DeMichele G, Volpe G, Lincoln S, Breteler M, Meco G, Brice A, Marsden CD, Hardy J, Wood NW. Vaughan JR, et al. Among authors: gasser t. Hum Mol Genet. 1998 Apr;7(4):751-3. doi: 10.1093/hmg/7.4.751. Hum Mol Genet. 1998. PMID: 9499430
A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe. French Parkinson's Disease Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinson's Disease.
Abbas N, Lücking CB, Ricard S, Dürr A, Bonifati V, De Michele G, Bouley S, Vaughan JR, Gasser T, Marconi R, Broussolle E, Brefel-Courbon C, Harhangi BS, Oostra BA, Fabrizio E, Böhme GA, Pradier L, Wood NW, Filla A, Meco G, Denefle P, Agid Y, Brice A. Abbas N, et al. Among authors: gasser t. Hum Mol Genet. 1999 Apr;8(4):567-74. doi: 10.1093/hmg/8.4.567. Hum Mol Genet. 1999. PMID: 10072423
The Ile93Met mutation in the ubiquitin carboxy-terminal-hydrolase-L1 gene is not observed in European cases with familial Parkinson's disease.
Harhangi BS, Farrer MJ, Lincoln S, Bonifati V, Meco G, De Michele G, Brice A, Dürr A, Martinez M, Gasser T, Bereznai B, Vaughan JR, Wood NW, Hardy J, Oostra BA, Breteler MM. Harhangi BS, et al. Among authors: gasser t. Neurosci Lett. 1999 Jul 23;270(1):1-4. doi: 10.1016/s0304-3940(99)00465-6. Neurosci Lett. 1999. PMID: 10454131
The parkin gene and its phenotype. Italian PD Genetics Study Group, French PD Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinson's Disease.
Bonifati V, De Michele G, Lücking CB, Dürr A, Fabrizio E, Ambrosio G, Vanacore N, De Mari M, Marconi R, Capus L, Breteler MM, Gasser T, Oostra B, Wood N, Agid Y, Filla A, Meco G, Brice A; Italian PD Genetics Study Group, French PD Genetics Study Group, European Consortium on Genetic Susceptibility in PD. Bonifati V, et al. Among authors: gasser t. Neurol Sci. 2001 Feb;22(1):51-2. doi: 10.1007/s100720170042. Neurol Sci. 2001. PMID: 11487197
Investigation of Autosomal Genetic Sex Differences in Parkinson's Disease.
Blauwendraat C, Iwaki H, Makarious MB, Bandres-Ciga S, Leonard HL, Grenn FP, Lake J, Krohn L, Tan M, Kim JJ, Gibbs JR, Hernandez DG, Ruskey JA, Pihlstrøm L, Toft M, van Hilten JJ, Marinus J, Schulte C, Brockmann K, Sharma M, Siitonen A, Majamaa K, Eerola-Rautio J, Tienari PJ, Grosset DG, Lesage S, Corvol JC, Brice A, Wood N, Hardy J, Gan-Or Z, Heutink P, Gasser T, Morris HR, Noyce AJ, Nalls MA, Singleton AB; International Parkinson's Disease Genomics Consortium (IPDGC). Blauwendraat C, et al. Among authors: gasser t. Ann Neurol. 2021 Jul;90(1):35-42. doi: 10.1002/ana.26090. Epub 2021 May 24. Ann Neurol. 2021. PMID: 33901317 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.
Genetic complexity and Parkinson's disease.
Gasser T, Müller-Myhsok B, Wszolek ZK, Dürr A, Vaughan JR, Bonifati V, Meco G, Bereznai B, Oehlmann R, Agid Y, Brice A, Wood N. Gasser T, et al. Science. 1997 Jul 18;277(5324):388-9; author reply 389. Science. 1997. PMID: 9518367 No abstract available.
1,065 results