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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. Among authors: hernandez d. 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.
Genomewide SNP assay reveals mutations underlying Parkinson disease.
Simon-Sanchez J, Scholz S, Matarin Mdel M, Fung HC, Hernandez D, Gibbs JR, Britton A, Hardy J, Singleton A. Simon-Sanchez J, et al. Among authors: hernandez d. Hum Mutat. 2008 Feb;29(2):315-22. doi: 10.1002/humu.20626. Hum Mutat. 2008. PMID: 17994548
Characterization of PLA2G6 as a locus for dystonia-parkinsonism.
Paisan-Ruiz C, Bhatia KP, Li A, Hernandez D, Davis M, Wood NW, Hardy J, Houlden H, Singleton A, Schneider SA. Paisan-Ruiz C, et al. Among authors: hernandez d. Ann Neurol. 2009 Jan;65(1):19-23. doi: 10.1002/ana.21415. Ann Neurol. 2009. PMID: 18570303 Free PMC article.
Neurofibrillary tau pathology modulated by genetic variation of alpha-synuclein.
Peuralinna T, Oinas M, Polvikoski T, Paetau A, Sulkava R, Niinistö L, Kalimo H, Hernandez D, Hardy J, Singleton A, Tienari PJ, Myllykangas L. Peuralinna T, et al. Among authors: hernandez d. Ann Neurol. 2008 Sep;64(3):348-52. doi: 10.1002/ana.21446. Ann Neurol. 2008. PMID: 18661559 Free PMC article.
A duplication at chromosome 11q12.2-11q12.3 is associated with spinocerebellar ataxia type 20.
Knight MA, Hernandez D, Diede SJ, Dauwerse HG, Rafferty I, van de Leemput J, Forrest SM, Gardner RJ, Storey E, van Ommen GJ, Tapscott SJ, Fischbeck KH, Singleton AB. Knight MA, et al. Among authors: hernandez d. Hum Mol Genet. 2008 Dec 15;17(24):3847-53. doi: 10.1093/hmg/ddn283. Epub 2008 Sep 18. Hum Mol Genet. 2008. PMID: 18801880 Free PMC article.
2,059 results