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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
Endothelial, sympathetic, and cardiac function in inherited (6R)-L-erythro-5,6,7,8-tetrahydro-L-biopterin deficiency.
Mayahi L, Mason L, Bleasdale-Barr K, Donald A, Trender-Gerhard I, Sweeney MG, Davis MB, Wood N, Mathias CJ, Watson L, Pellerin D, Heales S, Deanfield JE, Bhatia K, Murray-Rust J, Hingorani AD. Mayahi L, et al. Among authors: davis mb. Circ Cardiovasc Genet. 2010 Dec;3(6):513-22. doi: 10.1161/CIRCGENETICS.110.957605. Epub 2010 Oct 11. Circ Cardiovasc Genet. 2010. PMID: 20937667
The role of interruptions in polyQ in the pathology of SCA1.
Menon RP, Nethisinghe S, Faggiano S, Vannocci T, Rezaei H, Pemble S, Sweeney MG, Wood NW, Davis MB, Pastore A, Giunti P. Menon RP, et al. Among authors: davis mb. PLoS Genet. 2013;9(7):e1003648. doi: 10.1371/journal.pgen.1003648. Epub 2013 Jul 25. PLoS Genet. 2013. PMID: 23935513 Free PMC article.
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
Hereditary sensory neuropathy is caused by a mutation in the delta subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct4 ) gene.
Lee MJ, Stephenson DA, Groves MJ, Sweeney MG, Davis MB, An SF, Houlden H, Salih MA, Timmerman V, de Jonghe P, Auer-Grumbach M, Di Maria E, Scaravilli F, Wood NW, Reilly MM. Lee MJ, et al. Among authors: davis mb. Hum Mol Genet. 2003 Aug 1;12(15):1917-25. doi: 10.1093/hmg/ddg198. Hum Mol Genet. 2003. PMID: 12874111
277 results