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Page 1
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. 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.
Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia.
Deng HX, Chen W, Hong ST, Boycott KM, Gorrie GH, Siddique N, Yang Y, Fecto F, Shi Y, Zhai H, Jiang H, Hirano M, Rampersaud E, Jansen GH, Donkervoort S, Bigio EH, Brooks BR, Ajroud K, Sufit RL, Haines JL, Mugnaini E, Pericak-Vance MA, Siddique T. Deng HX, et al. Nature. 2011 Aug 21;477(7363):211-5. doi: 10.1038/nature10353. Nature. 2011. PMID: 21857683 Free PMC article.
SQSTM1 mutations in familial and sporadic amyotrophic lateral sclerosis.
Fecto F, Yan J, Vemula SP, Liu E, Yang Y, Chen W, Zheng JG, Shi Y, Siddique N, Arrat H, Donkervoort S, Ajroud-Driss S, Sufit RL, Heller SL, Deng HX, Siddique T. Fecto F, et al. Among authors: deng hx. Arch Neurol. 2011 Nov;68(11):1440-6. doi: 10.1001/archneurol.2011.250. Arch Neurol. 2011. PMID: 22084127
Identification of TMEM230 mutations in familial Parkinson's disease.
Deng HX, Shi Y, Yang Y, Ahmeti KB, Miller N, Huang C, Cheng L, Zhai H, Deng S, Nuytemans K, Corbett NJ, Kim MJ, Deng H, Tang B, Yang Z, Xu Y, Chan P, Huang B, Gao XP, Song Z, Liu Z, Fecto F, Siddique N, Foroud T, Jankovic J, Ghetti B, Nicholson DA, Krainc D, Melen O, Vance JM, Pericak-Vance MA, Ma YC, Rajput AH, Siddique T. Deng HX, et al. Among authors: deng h, deng s. Nat Genet. 2016 Jul;48(7):733-9. doi: 10.1038/ng.3589. Epub 2016 Jun 6. Nat Genet. 2016. PMID: 27270108 Free PMC article.
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: deng hx. 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
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. 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
251 results