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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.
Genetic Disorders of Manganese Metabolism.
Anagianni S, Tuschl K. Anagianni S, et al. Among authors: tuschl k. Curr Neurol Neurosci Rep. 2019 May 14;19(6):33. doi: 10.1007/s11910-019-0942-y. Curr Neurol Neurosci Rep. 2019. PMID: 31089831 Free PMC article. Review.
Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia.
Tuschl K, Meyer E, Valdivia LE, Zhao N, Dadswell C, Abdul-Sada A, Hung CY, Simpson MA, Chong WK, Jacques TS, Woltjer RL, Eaton S, Gregory A, Sanford L, Kara E, Houlden H, Cuno SM, Prokisch H, Valletta L, Tiranti V, Younis R, Maher ER, Spencer J, Straatman-Iwanowska A, Gissen P, Selim LA, Pintos-Morell G, Coroleu-Lletget W, Mohammad SS, Yoganathan S, Dale RC, Thomas M, Rihel J, Bodamer OA, Enns CA, Hayflick SJ, Clayton PT, Mills PB, Kurian MA, Wilson SW. Tuschl K, et al. Nat Commun. 2016 May 27;7:11601. doi: 10.1038/ncomms11601. Nat Commun. 2016. PMID: 27231142 Free PMC article.
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.
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
29 results