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A rare Cu/Zn superoxide dismutase mutation causing familial amyotrophic lateral sclerosis with variable age of onset, incomplete penetrance and a sensory neuropathy.
Rezania K, Yan J, Dellefave L, Deng HX, Siddique N, Pascuzzi RT, Siddique T, Roos RP. Rezania K, et al. Among authors: siddique n, siddique t. Amyotroph Lateral Scler Other Motor Neuron Disord. 2003 Sep;4(3):162-6. doi: 10.1080/aml.4.3.162.166. Amyotroph Lateral Scler Other Motor Neuron Disord. 2003. PMID: 13129803
Conversion to the amyotrophic lateral sclerosis phenotype is associated with intermolecular linked insoluble aggregates of SOD1 in mitochondria.
Deng HX, Shi Y, Furukawa Y, Zhai H, Fu R, Liu E, Gorrie GH, Khan MS, Hung WY, Bigio EH, Lukas T, Dal Canto MC, O'Halloran TV, Siddique T. Deng HX, et al. Among authors: siddique t. Proc Natl Acad Sci U S A. 2006 May 2;103(18):7142-7. doi: 10.1073/pnas.0602046103. Epub 2006 Apr 24. Proc Natl Acad Sci U S A. 2006. PMID: 16636275 Free PMC article.
Distal axonopathy in an alsin-deficient mouse model.
Deng HX, Zhai H, Fu R, Shi Y, Gorrie GH, Yang Y, Liu E, Dal Canto MC, Mugnaini E, Siddique T. Deng HX, et al. Among authors: siddique t. Hum Mol Genet. 2007 Dec 1;16(23):2911-20. doi: 10.1093/hmg/ddm251. Epub 2007 Sep 12. Hum Mol Genet. 2007. PMID: 17855450
259 results