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Is the MC1R variant p.R160W associated with Parkinson's?
Lubbe SJ, Escott-Price V, Brice A, Gasser T, Hardy J, Heutink P, Sharma M, Wood NW, Nalls M, Singleton AB, Williams NM, Morris HR; International Parkinson's Disease Genomics Consortium. Lubbe SJ, et al. Among authors: brice a. Ann Neurol. 2016 Jan;79(1):159-61. doi: 10.1002/ana.24527. Epub 2015 Dec 12. Ann Neurol. 2016. PMID: 26389967 Free PMC article. No abstract available.
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
How much phenotypic variation can be attributed to parkin genotype?
Lohmann E, Periquet M, Bonifati V, Wood NW, De Michele G, Bonnet AM, Fraix V, Broussolle E, Horstink MW, Vidailhet M, Verpillat P, Gasser T, Nicholl D, Teive H, Raskin S, Rascol O, Destée A, Ruberg M, Gasparini F, Meco G, Agid Y, Durr A, Brice A; French Parkinson's Disease Genetics Study Group; European Consortium on Genetic Susceptibility in Parkinson's Disease. Lohmann E, et al. Among authors: brice a. Ann Neurol. 2003 Aug;54(2):176-85. doi: 10.1002/ana.10613. Ann Neurol. 2003. PMID: 12891670
PARK11 is not linked with Parkinson's disease in European families.
Prestel J, Sharma M, Leitner P, Zimprich A, Vaughan JR, Dürr A, Bonifati V, De Michele G, Hanagasi HA, Farrer M, Hofer A, Asmus F, Volpe G, Meco G, Brice A, Wood NW, Müller-Myhsok B, Gasser T; European Consortium on Genetic Susceptibility in Parkinson's Disease (GSPD). Prestel J, et al. Among authors: brice a. Eur J Hum Genet. 2005 Feb;13(2):193-7. doi: 10.1038/sj.ejhg.5201317. Eur J Hum Genet. 2005. PMID: 15523496
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: brice a. 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
G2019S LRRK2 mutation in French and North African families with Parkinson's disease.
Lesage S, Ibanez P, Lohmann E, Pollak P, Tison F, Tazir M, Leutenegger AL, Guimaraes J, Bonnet AM, Agid Y, Dürr A, Brice A; French Parkinson's Disease Genetics Study Group. Lesage S, et al. Among authors: brice a. Ann Neurol. 2005 Nov;58(5):784-7. doi: 10.1002/ana.20636. Ann Neurol. 2005. PMID: 16240353
Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study.
Healy DG, Falchi M, O'Sullivan SS, Bonifati V, Durr A, Bressman S, Brice A, Aasly J, Zabetian CP, Goldwurm S, Ferreira JJ, Tolosa E, Kay DM, Klein C, Williams DR, Marras C, Lang AE, Wszolek ZK, Berciano J, Schapira AH, Lynch T, Bhatia KP, Gasser T, Lees AJ, Wood NW; International LRRK2 Consortium. Healy DG, et al. Among authors: brice a. Lancet Neurol. 2008 Jul;7(7):583-90. doi: 10.1016/S1474-4422(08)70117-0. Epub 2008 Jun 6. Lancet Neurol. 2008. PMID: 18539534 Free PMC article.
1,076 results