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Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration.
Tsaousidou MK, Ouahchi K, Warner TT, Yang Y, Simpson MA, Laing NG, Wilkinson PA, Madrid RE, Patel H, Hentati F, Patton MA, Hentati A, Lamont PJ, Siddique T, Crosby AH. Tsaousidou MK, et al. Among authors: yang y. Am J Hum Genet. 2008 Feb;82(2):510-5. doi: 10.1016/j.ajhg.2007.10.001. Epub 2008 Jan 18. Am J Hum Genet. 2008. PMID: 18252231 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: yang y. Arch Neurol. 2011 Nov;68(11):1440-6. doi: 10.1001/archneurol.2011.250. Arch Neurol. 2011. PMID: 22084127
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: yang y. 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
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. Among authors: yang y. Nature. 2011 Aug 21;477(7363):211-5. doi: 10.1038/nature10353. Nature. 2011. PMID: 21857683 Free PMC article.
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: yang y, yang z. 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.
Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1.
Ahmeti KB, Ajroud-Driss S, Al-Chalabi A, Andersen PM, Armstrong J, Birve A, Blauw HM, Brown RH, Bruijn L, Chen W, Chio A, Comeau MC, Cronin S, Diekstra FP, Soraya Gkazi A, Glass JD, Grab JD, Groen EJ, Haines JL, Hardiman O, Heller S, Huang J, Hung WY; ITALSGEN consortium; Jaworski JM, Jones A, Khan H, Landers JE, Langefeld CD, Leigh PN, Marion MC, McLaughlin RL, Meininger V, Melki J, Miller JW, Mora G, Pericak-Vance MA, Rampersaud E, Robberecht W, Russell LP, Salachas F, Saris CG, Shatunov A, Shaw CE, Siddique N, Siddique T, Smith BN, Sufit R, Topp S, Traynor BJ, Vance C, van Damme P, van den Berg LH, van Es MA, van Vught PW, Veldink JH, Yang Y, Zheng JG; ALSGEN Consortium. Ahmeti KB, et al. Among authors: yang y. Neurobiol Aging. 2013 Jan;34(1):357.e7-19. doi: 10.1016/j.neurobiolaging.2012.07.017. Epub 2012 Sep 5. Neurobiol Aging. 2013. PMID: 22959728 Free PMC article.
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