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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. 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.
Dendritic spinopathy in transgenic mice expressing ALS/dementia-linked mutant UBQLN2.
Gorrie GH, Fecto F, Radzicki D, Weiss C, Shi Y, Dong H, Zhai H, Fu R, Liu E, Li S, Arrat H, Bigio EH, Disterhoft JF, Martina M, Mugnaini E, Siddique T, Deng HX. Gorrie GH, et al. Proc Natl Acad Sci U S A. 2014 Oct 7;111(40):14524-9. doi: 10.1073/pnas.1405741111. Epub 2014 Sep 22. Proc Natl Acad Sci U S A. 2014. PMID: 25246588 Free PMC article.
Inclusions in frontotemporal lobar degeneration with TDP-43 proteinopathy (FTLD-TDP) and amyotrophic lateral sclerosis (ALS), but not FTLD with FUS proteinopathy (FTLD-FUS), have properties of amyloid.
Bigio EH, Wu JY, Deng HX, Bit-Ivan EN, Mao Q, Ganti R, Peterson M, Siddique N, Geula C, Siddique T, Mesulam M. Bigio EH, et al. Acta Neuropathol. 2013 Mar;125(3):463-5. doi: 10.1007/s00401-013-1089-6. Epub 2013 Feb 3. Acta Neuropathol. 2013. PMID: 23378033 Free PMC article. No abstract available.