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Page 1
Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease.
Sidransky E, Nalls MA, Aasly JO, Aharon-Peretz J, Annesi G, Barbosa ER, Bar-Shira A, Berg D, Bras J, Brice A, Chen CM, Clark LN, Condroyer C, De Marco EV, Dürr A, Eblan MJ, Fahn S, Farrer MJ, Fung HC, Gan-Or Z, Gasser T, Gershoni-Baruch R, Giladi N, Griffith A, Gurevich T, Januario C, Kropp P, Lang AE, Lee-Chen GJ, Lesage S, Marder K, Mata IF, Mirelman A, Mitsui J, Mizuta I, Nicoletti G, Oliveira C, Ottman R, Orr-Urtreger A, Pereira LV, Quattrone A, Rogaeva E, Rolfs A, Rosenbaum H, Rozenberg R, Samii A, Samaddar T, Schulte C, Sharma M, Singleton A, Spitz M, Tan EK, Tayebi N, Toda T, Troiano AR, Tsuji S, Wittstock M, Wolfsberg TG, Wu YR, Zabetian CP, Zhao Y, Ziegler SG. Sidransky E, et al. Among authors: farrer mj. N Engl J Med. 2009 Oct 22;361(17):1651-61. doi: 10.1056/NEJMoa0901281. N Engl J Med. 2009. PMID: 19846850 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: farrer mj. Hum Mol Genet. 1998 Apr;7(4):751-3. doi: 10.1093/hmg/7.4.751. Hum Mol Genet. 1998. PMID: 9499430
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: farrer mj. Neurosci Lett. 1999 Jul 23;270(1):1-4. doi: 10.1016/s0304-3940(99)00465-6. Neurosci Lett. 1999. PMID: 10454131
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. Am J Med Genet. 2002 Jul 8;114(5):584-91. doi: 10.1002/ajmg.10525. Am J Med Genet. 2002. PMID: 12116199
alpha-Synuclein locus triplication causes Parkinson's disease.
Singleton AB, Farrer M, Johnson J, Singleton A, Hague S, Kachergus J, Hulihan M, Peuralinna T, Dutra A, Nussbaum R, Lincoln S, Crawley A, Hanson M, Maraganore D, Adler C, Cookson MR, Muenter M, Baptista M, Miller D, Blancato J, Hardy J, Gwinn-Hardy K. Singleton AB, et al. Science. 2003 Oct 31;302(5646):841. doi: 10.1126/science.1090278. Science. 2003. PMID: 14593171 No abstract available.
Parkin genetics: one model for Parkinson's disease.
Mata IF, Lockhart PJ, Farrer MJ. Mata IF, et al. Among authors: farrer mj. Hum Mol Genet. 2004 Apr 1;13 Spec No 1:R127-33. doi: 10.1093/hmg/ddh089. Epub 2004 Feb 19. Hum Mol Genet. 2004. PMID: 14976155 Review.
449 results