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Page 1
Syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia caused by mutations in SLC30A10, a manganese transporter in man.
Tuschl K, Clayton PT, Gospe SM Jr, Gulab S, Ibrahim S, Singhi P, Aulakh R, Ribeiro RT, Barsottini OG, Zaki MS, Del Rosario ML, Dyack S, Price V, Rideout A, Gordon K, Wevers RA, Chong WK, Mills PB. Tuschl K, et al. Am J Hum Genet. 2012 Mar 9;90(3):457-66. doi: 10.1016/j.ajhg.2012.01.018. Epub 2012 Feb 16. Am J Hum Genet. 2012. PMID: 22341972 Free PMC article.
Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency).
Mills PB, Footitt EJ, Mills KA, Tuschl K, Aylett S, Varadkar S, Hemingway C, Marlow N, Rennie J, Baxter P, Dulac O, Nabbout R, Craigen WJ, Schmitt B, Feillet F, Christensen E, De Lonlay P, Pike MG, Hughes MI, Struys EA, Jakobs C, Zuberi SM, Clayton PT. Mills PB, et al. Among authors: tuschl k. Brain. 2010 Jul;133(Pt 7):2148-59. doi: 10.1093/brain/awq143. Epub 2010 Jun 16. Brain. 2010. PMID: 20554659 Free PMC article.
Manganese and the brain.
Tuschl K, Mills PB, Clayton PT. Tuschl K, et al. Int Rev Neurobiol. 2013;110:277-312. doi: 10.1016/B978-0-12-410502-7.00013-2. Int Rev Neurobiol. 2013. PMID: 24209443 Review.
Inherited manganism: the "cock-walk" gait and typical neuroimaging features.
Avelino MA, Fusão EF, Pedroso JL, Arita JH, Ribeiro RT, Pinho RS, Tuschl K, Barsottini OG, Masruha MR. Avelino MA, et al. Among authors: tuschl k. J Neurol Sci. 2014 Jun 15;341(1-2):150-2. doi: 10.1016/j.jns.2014.03.057. Epub 2014 Apr 4. J Neurol Sci. 2014. PMID: 24746291
Sterols and oxysterols in plasma from Smith-Lemli-Opitz syndrome patients.
Griffiths WJ, Abdel-Khalik J, Crick PJ, Ogundare M, Shackleton CH, Tuschl K, Kwok MK, Bigger BW, Morris AA, Honda A, Xu L, Porter NA, Björkhem I, Clayton PT, Wang Y. Griffiths WJ, et al. Among authors: tuschl k. J Steroid Biochem Mol Biol. 2017 May;169:77-87. doi: 10.1016/j.jsbmb.2016.03.018. Epub 2016 Mar 11. J Steroid Biochem Mol Biol. 2017. PMID: 26976653 Free PMC article.
31 results