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Page 1
Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans.
van de Leemput J, Chandran J, Knight MA, Holtzclaw LA, Scholz S, Cookson MR, Houlden H, Gwinn-Hardy K, Fung HC, Lin X, Hernandez D, Simon-Sanchez J, Wood NW, Giunti P, Rafferty I, Hardy J, Storey E, Gardner RJ, Forrest SM, Fisher EM, Russell JT, Cai H, Singleton AB. van de Leemput J, et al. PLoS Genet. 2007 Jun;3(6):e108. doi: 10.1371/journal.pgen.0030108. Epub 2007 May 16. PLoS Genet. 2007. PMID: 17590087 Free PMC article.
Genome-wide genotyping in Parkinson's disease and neurologically normal controls: first stage analysis and public release of data.
Fung HC, Scholz S, Matarin M, Simón-Sánchez J, Hernandez D, Britton A, Gibbs JR, Langefeld C, Stiegert ML, Schymick J, Okun MS, Mandel RJ, Fernandez HH, Foote KD, Rodríguez RL, Peckham E, De Vrieze FW, Gwinn-Hardy K, Hardy JA, Singleton A. Fung HC, et al. Lancet Neurol. 2006 Nov;5(11):911-6. doi: 10.1016/S1474-4422(06)70578-6. Lancet Neurol. 2006. PMID: 17052657
Genetics of Parkinson's disease and parkinsonism.
Hardy J, Cai H, Cookson MR, Gwinn-Hardy K, Singleton A. Hardy J, et al. Ann Neurol. 2006 Oct;60(4):389-98. doi: 10.1002/ana.21022. Ann Neurol. 2006. PMID: 17068789 Review.
Genome-wide SNP assay reveals structural genomic variation, extended homozygosity and cell-line induced alterations in normal individuals.
Simon-Sanchez J, Scholz S, Fung HC, Matarin M, Hernandez D, Gibbs JR, Britton A, de Vrieze FW, Peckham E, Gwinn-Hardy K, Crawley A, Keen JC, Nash J, Borgaonkar D, Hardy J, Singleton A. Simon-Sanchez J, et al. Hum Mol Genet. 2007 Jan 1;16(1):1-14. doi: 10.1093/hmg/ddl436. Epub 2006 Nov 20. Hum Mol Genet. 2007. PMID: 17116639
Mutation at the SCA17 locus is not a common cause of parkinsonism.
Hernandez D, Hanson M, Singleton A, Gwinn-Hardy K, Freeman J, Ravina B, Doheny D, Gallardo M, Weiser R, Hardy J, Singleton A. Hernandez D, et al. Parkinsonism Relat Disord. 2003 Aug;9(6):317-20. doi: 10.1016/s1353-8020(03)00027-0. Parkinsonism Relat Disord. 2003. PMID: 12853230
98 results