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The Val158Met COMT polymorphism is a modifier of the age at onset in Parkinson's disease with a sexual dimorphism.
Klebe S, Golmard JL, Nalls MA, Saad M, Singleton AB, Bras JM, Hardy J, Simon-Sanchez J, Heutink P, Kuhlenbäumer G, Charfi R, Klein C, Hagenah J, Gasser T, Wurster I, Lesage S, Lorenz D, Deuschl G, Durif F, Pollak P, Damier P, Tison F, Durr A, Amouyel P, Lambert JC, Tzourio C, Maubaret C, Charbonnier-Beaupel F, Tahiri K, Vidailhet M, Martinez M, Brice A, Corvol JC; French Parkinson's Disease Genetics Study Group; International Parkinson's Disease Genomics Consortium (IPDGC). Klebe S, et al. Among authors: brice a. J Neurol Neurosurg Psychiatry. 2013 Jun;84(6):666-73. doi: 10.1136/jnnp-2012-304475. Epub 2013 Feb 13. J Neurol Neurosurg Psychiatry. 2013. PMID: 23408064 Free PMC article.
PARK6-linked parkinsonism occurs in several European families.
Valente EM, Brancati F, Ferraris A, Graham EA, Davis MB, Breteler MM, Gasser T, Bonifati V, Bentivoglio AR, De Michele G, Dürr A, Cortelli P, Wassilowsky D, Harhangi BS, Rawal N, Caputo V, Filla A, Meco G, Oostra BA, Brice A, Albanese A, Dallapiccola B, Wood NW; European Consortium on Genetic Susceptibility in Parkinson's Disease. Valente EM, et al. Among authors: brice a. Ann Neurol. 2002 Jan;51(1):14-8. Ann Neurol. 2002. PMID: 11782979
Complex relationship between Parkin mutations and Parkinson disease.
West A, Periquet M, Lincoln S, Lücking CB, Nicholl D, Bonifati V, Rawal N, Gasser T, Lohmann E, Deleuze JF, Maraganore D, Levey A, Wood N, Dürr A, Hardy J, Brice A, Farrer M; French Parkinson's Disease Genetics Study Group and the European Consortium on Genetic Susceptibility on Parkinson's Disease. West A, et al. Among authors: brice a. Am J Med Genet. 2002 Jul 8;114(5):584-91. doi: 10.1002/ajmg.10525. Am J Med Genet. 2002. PMID: 12116199
Myoclonus-dystonia syndrome: epsilon-sarcoglycan mutations and phenotype.
Asmus F, Zimprich A, Tezenas Du Montcel S, Kabus C, Deuschl G, Kupsch A, Ziemann U, Castro M, Kühn AA, Strom TM, Vidailhet M, Bhatia KP, Dürr A, Wood NW, Brice A, Gasser T. Asmus F, et al. Among authors: brice a. Ann Neurol. 2002 Oct;52(4):489-92. doi: 10.1002/ana.10325. Ann Neurol. 2002. PMID: 12325078
Exclusion of the Nurr1 gene in autosomal recessive Parkinson's disease.
Rawal N, Periquet M, Dürr A, de Michele G, Bonifati V, Teive HA, Raskin S, Guimaraes J, Agid Y, Brice A; French Parkinson's Disease Genetics Study Group; European Consortium on Genetic Susceptibility in Parkinson's Disease. Rawal N, et al. Among authors: brice a. J Neurol. 2002 Aug;249(8):1127-9. doi: 10.1007/s00415-002-0757-6. J Neurol. 2002. PMID: 12420720 No abstract available.
Spinocerebellar ataxias caused by polyglutamine expansions.
Stevanin G, Dürr A, Brice A. Stevanin G, et al. Among authors: brice a. Adv Exp Med Biol. 2002;516:47-77. doi: 10.1007/978-1-4615-0117-6_3. Adv Exp Med Biol. 2002. PMID: 12611435 Review. No abstract available.
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: brice a. Brain. 2003 Jun;126(Pt 6):1271-8. doi: 10.1093/brain/awg136. Brain. 2003. PMID: 12764050
1,077 results