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Mutations in the gene LRRK2 encoding dardarin (PARK8) cause familial Parkinson's disease: clinical, pathological, olfactory and functional imaging and genetic data.
Khan NL, Jain S, Lynch JM, Pavese N, Abou-Sleiman P, Holton JL, Healy DG, Gilks WP, Sweeney MG, Ganguly M, Gibbons V, Gandhi S, Vaughan J, Eunson LH, Katzenschlager R, Gayton J, Lennox G, Revesz T, Nicholl D, Bhatia KP, Quinn N, Brooks D, Lees AJ, Davis MB, Piccini P, Singleton AB, Wood NW. Khan NL, et al. Among authors: vaughan j. Brain. 2005 Dec;128(Pt 12):2786-96. doi: 10.1093/brain/awh667. Epub 2005 Nov 4. Brain. 2005. PMID: 16272164
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. 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.
Genetics of Parkinsonism: a review.
Vaughan JR, Davis MB, Wood NW. Vaughan JR, et al. Ann Hum Genet. 2001 Mar;65(Pt 2):111-26. doi: 10.1017/S0003480001008557. Ann Hum Genet. 2001. PMID: 11427172 Review.
No pathogenic mutations in the synphilin-1 gene in Parkinson's disease.
Bandopadhyay R, de Silva R, Khan N, Graham E, Vaughan J, Engelender S, Ross C, Morris H, Morris C, Wood NW, Daniel S, Lees A. Bandopadhyay R, et al. Among authors: vaughan j. Neurosci Lett. 2001 Jul 13;307(2):125-7. doi: 10.1016/s0304-3940(01)01935-8. Neurosci Lett. 2001. PMID: 11427316
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. Ann Neurol. 1998 Aug;44(2):270-3. doi: 10.1002/ana.410440221. Ann Neurol. 1998. PMID: 9708553
1,351 results