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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: davis mb. Brain. 2005 Dec;128(Pt 12):2786-96. doi: 10.1093/brain/awh667. Epub 2005 Nov 4. Brain. 2005. PMID: 16272164
Familial dopa-responsive cervical dystonia.
Schneider SA, Mohire MD, Trender-Gerhard I, Asmus F, Sweeney M, Davis M, Gasser T, Wood NW, Bhatia KP. Schneider SA, et al. Neurology. 2006 Feb 28;66(4):599-601. doi: 10.1212/01.wnl.0000198501.61063.66. Neurology. 2006. PMID: 16505323
Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia.
Hersheson J, Mencacci NE, Davis M, MacDonald N, Trabzuni D, Ryten M, Pittman A, Paudel R, Kara E, Fawcett K, Plagnol V, Bhatia KP, Medlar AJ, Stanescu HC, Hardy J, Kleta R, Wood NW, Houlden H. Hersheson J, et al. Ann Neurol. 2013 Apr;73(4):546-53. doi: 10.1002/ana.23832. Epub 2013 Feb 19. Ann Neurol. 2013. PMID: 23424103 Free PMC article.
Somatic and germline mosaicism in sporadic early-onset Alzheimer's disease.
Beck JA, Poulter M, Campbell TA, Uphill JB, Adamson G, Geddes JF, Revesz T, Davis MB, Wood NW, Collinge J, Tabrizi SJ. Beck JA, et al. Among authors: davis mb. Hum Mol Genet. 2004 Jun 15;13(12):1219-24. doi: 10.1093/hmg/ddh134. Epub 2004 Apr 28. Hum Mol Genet. 2004. PMID: 15115757
277 results