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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: vaughan jr. Neurosci Lett. 1999 Jul 23;270(1):1-4. doi: 10.1016/s0304-3940(99)00465-6. Neurosci Lett. 1999. PMID: 10454131
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. Hum Mol Genet. 1998 Apr;7(4):751-3. doi: 10.1093/hmg/7.4.751. Hum Mol Genet. 1998. PMID: 9499430
No pathogenic mutations in the synphilin-1 gene in Parkinson's disease.
Bandopadhyay R, de Silva R, Khan N, Graham E, Vaughan J, Engelender S, Ross C, Morris H, Morris C, Wood NW, Daniel S, Lees A. Bandopadhyay R, et al. Among authors: vaughan j. Neurosci Lett. 2001 Jul 13;307(2):125-7. doi: 10.1016/s0304-3940(01)01935-8. Neurosci Lett. 2001. PMID: 11427316
Apolipoprotein E4 is probably responsible for the chromosome 19 linkage peak for Parkinson's disease.
Martinez M, Brice A, Vaughan JR, Zimprich A, Breteler MM, Meco G, Filla A, Farrer MJ, Bétard C, Singleton A, Hardy J, De Michele G, Bonifati V, Oostra BA, Gasser T, Wood NW, Dürr A. Martinez M, et al. Among authors: vaughan jr. Am J Med Genet B Neuropsychiatr Genet. 2005 Jul 5;136B(1):72-4. doi: 10.1002/ajmg.b.30196. Am J Med Genet B Neuropsychiatr Genet. 2005. PMID: 15924299
Genome-wide scan linkage analysis for Parkinson's disease: the European genetic study of Parkinson's disease.
Martinez M, Brice A, Vaughan JR, Zimprich A, Breteler MM, Meco G, Filla A, Farrer MJ, Bétard C, Hardy J, De Michele G, Bonifati V, Oostra B, Gasser T, Wood NW, Dürr A; French Parkinson's Disease Genetics Study Group; European Consortium on Genetic Susceptibility in Parkinson's Disease. Martinez M, et al. Among authors: vaughan jr. J Med Genet. 2004 Dec;41(12):900-7. doi: 10.1136/jmg.2004.022632. J Med Genet. 2004. PMID: 15591275 Free PMC article.
1,351 results