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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: cookson mr. 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.
Genes and parkinsonism.
Hardy J, Cookson MR, Singleton A. Hardy J, et al. Among authors: cookson mr. Lancet Neurol. 2003 Apr;2(4):221-8. doi: 10.1016/s1474-4422(03)00350-8. Lancet Neurol. 2003. PMID: 12849210 Review.
Genetics of Parkinson's disease and parkinsonism.
Hardy J, Cai H, Cookson MR, Gwinn-Hardy K, Singleton A. Hardy J, et al. Among authors: cookson mr. Ann Neurol. 2006 Oct;60(4):389-98. doi: 10.1002/ana.21022. Ann Neurol. 2006. PMID: 17068789 Review.
Amyotrophic lateral sclerosis 2-deficiency leads to neuronal degeneration in amyotrophic lateral sclerosis through altered AMPA receptor trafficking.
Lai C, Xie C, McCormack SG, Chiang HC, Michalak MK, Lin X, Chandran J, Shim H, Shimoji M, Cookson MR, Huganir RL, Rothstein JD, Price DL, Wong PC, Martin LJ, Zhu JJ, Cai H. Lai C, et al. Among authors: cookson mr. J Neurosci. 2006 Nov 8;26(45):11798-806. doi: 10.1523/JNEUROSCI.2084-06.2006. J Neurosci. 2006. PMID: 17093100 Free PMC article.
335 results