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451 results

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Parkin mutations are frequent in patients with isolated early-onset parkinsonism.
Periquet M, Latouche M, Lohmann E, Rawal N, De Michele G, Ricard S, Teive H, Fraix V, Vidailhet M, Nicholl D, Barone P, Wood NW, Raskin S, Deleuze JF, Agid Y, Dürr A, Brice A; French Parkinson's Disease Genetics Study Group; European Consortium on Genetic Susceptibility in Parkinson's Disease. Periquet M, et al. Among authors: de michele g. Brain. 2003 Jun;126(Pt 6):1271-8. doi: 10.1093/brain/awg136. Brain. 2003. PMID: 12764050
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
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: de mari m, de michele g, de broucker t. 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: de michele g. 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: de michele g, de broucker t. Lancet. 1998 Oct 24;352(9137):1355-6. doi: 10.1016/s0140-6736(05)60746-5. Lancet. 1998. PMID: 9802278 No abstract available.
Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes.
Cossée M, Dürr A, Schmitt M, Dahl N, Trouillas P, Allinson P, Kostrzewa M, Nivelon-Chevallier A, Gustavson KH, Kohlschütter A, Müller U, Mandel JL, Brice A, Koenig M, Cavalcanti F, Tammaro A, De Michele G, Filla A, Cocozza S, Labuda M, Montermini L, Poirier J, Pandolfo M. Cossée M, et al. Among authors: de michele g. Ann Neurol. 1999 Feb;45(2):200-6. doi: 10.1002/1531-8249(199902)45:2<200::aid-ana10>3.0.co;2-u. Ann Neurol. 1999. PMID: 9989622
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: de michele g. 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: de michele g. Neurosci Lett. 1999 Jul 23;270(1):1-4. doi: 10.1016/s0304-3940(99)00465-6. Neurosci Lett. 1999. PMID: 10454131
451 results