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The sepiapterin reductase gene region reveals association in the PARK3 locus: analysis of familial and sporadic Parkinson's disease in European populations.
Sharma M, Mueller JC, Zimprich A, Lichtner P, Hofer A, Leitner P, Maass S, Berg D, Dürr A, Bonifati V, De Michele G, Oostra B, Brice A, Wood NW, Muller-Myhsok B, Gasser T; European Consortium on Genetic Susceptibility in Parkinson's Disease (GSPD). Sharma M, et al. Among authors: bonifati v. J Med Genet. 2006 Jul;43(7):557-62. doi: 10.1136/jmg.2005.039149. Epub 2006 Jan 27. J Med Genet. 2006. PMID: 16443856 Free PMC article.
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: bonifati v. Hum Mol Genet. 1998 Apr;7(4):751-3. doi: 10.1093/hmg/7.4.751. Hum Mol Genet. 1998. PMID: 9499430
A susceptibility locus for Parkinson's disease maps to chromosome 2p13.
Gasser T, Müller-Myhsok B, Wszolek ZK, Oehlmann R, Calne DB, Bonifati V, Bereznai B, Fabrizio E, Vieregge P, Horstmann RD. Gasser T, et al. Among authors: bonifati v. Nat Genet. 1998 Mar;18(3):262-5. doi: 10.1038/ng0398-262. Nat Genet. 1998. PMID: 9500549
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. Among authors: bonifati v. Science. 1997 Jul 18;277(5324):388-9; author reply 389. Science. 1997. PMID: 9518367 No abstract available.
Chromosome 6-linked autosomal recessive early-onset Parkinsonism: linkage in European and Algerian families, extension of the clinical spectrum, and evidence of a small homozygous deletion in one family. The French Parkinson's Disease Genetics Study Group, and the European Consortium on Genetic Susceptibility in Parkinson's Disease.
Tassin J, Dürr A, de Broucker T, Abbas N, Bonifati V, De Michele G, Bonnet AM, Broussolle E, Pollak P, Vidailhet M, De Mari M, Marconi R, Medjbeur S, Filla A, Meco G, Agid Y, Brice A. Tassin J, et al. Among authors: bonifati v. Am J Hum Genet. 1998 Jul;63(1):88-94. doi: 10.1086/301934. Am J Hum Genet. 1998. PMID: 9634531 Free PMC article.
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: bonifati v. Ann Neurol. 1998 Aug;44(2):270-3. doi: 10.1002/ana.410440221. Ann Neurol. 1998. PMID: 9708553
Homozygous deletions in parkin gene in European and North African families with autosomal recessive juvenile parkinsonism. The European Consortium on Genetic Susceptibility in Parkinson's Disease and the French Parkinson's Disease Genetics Study Group.
Lücking CB, Abbas N, Dürr A, Bonifati V, Bonnet AM, de Broucker T, De Michele G, Wood NW, Agid Y, Brice A. Lücking CB, et al. Among authors: bonifati v. Lancet. 1998 Oct 24;352(9137):1355-6. doi: 10.1016/s0140-6736(05)60746-5. Lancet. 1998. PMID: 9802278 No abstract available.
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: bonifati v. 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: bonifati v. Neurosci Lett. 1999 Jul 23;270(1):1-4. doi: 10.1016/s0304-3940(99)00465-6. Neurosci Lett. 1999. PMID: 10454131
241 results