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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.
Hypermanganesemia with Dystonia, Polycythemia and Cirrhosis (HMDPC) due to mutation in the SLC30A10 gene.
Mukhtiar K, Ibrahim S, Tuschl K, Mills P. Mukhtiar K, et al. Among authors: tuschl k. Brain Dev. 2016 Oct;38(9):862-5. doi: 10.1016/j.braindev.2016.04.005. Epub 2016 Apr 23. Brain Dev. 2016. PMID: 27117033
Novel founder intronic variant in SLC39A14 in two families causing Manganism and potential treatment strategies.
Rodan LH, Hauptman M, D'Gama AM, Qualls AE, Cao S, Tuschl K, Al-Jasmi F, Hertecant J, Hayflick SJ, Wessling-Resnick M, Yang ET, Berry GT, Gropman A, Woolf AD, Agrawal PB. Rodan LH, et al. Among authors: tuschl k. Mol Genet Metab. 2018 Jun;124(2):161-167. doi: 10.1016/j.ymgme.2018.04.002. Epub 2018 Apr 6. Mol Genet Metab. 2018. PMID: 29685658 Free PMC article.
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.
Dystonia with brain manganese accumulation resulting from SLC30A10 mutations: a new treatable disorder.
Stamelou M, Tuschl K, Chong WK, Burroughs AK, Mills PB, Bhatia KP, Clayton PT. Stamelou M, et al. Among authors: tuschl k. Mov Disord. 2012 Sep 1;27(10):1317-22. doi: 10.1002/mds.25138. Epub 2012 Aug 23. Mov Disord. 2012. PMID: 22926781 Free PMC article.
Hepatic cirrhosis, dystonia, polycythaemia and hypermanganesaemia--a new metabolic disorder.
Tuschl K, Mills PB, Parsons H, Malone M, Fowler D, Bitner-Glindzicz M, Clayton PT. Tuschl K, et al. J Inherit Metab Dis. 2008 Apr;31(2):151-63. doi: 10.1007/s10545-008-0813-1. Epub 2008 Apr 4. J Inherit Metab Dis. 2008. PMID: 18392750
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.
Phenotypic variability in a dystonia family with mutations in the manganese transporter gene.
Delnooz CC, Wevers RA, Quadri M, Clayton PT, Mills PB, Tuschl K, Steenbergen EJ, Bonifati V, van de Warrenburg BP. Delnooz CC, et al. Among authors: tuschl k. Mov Disord. 2013 May;28(5):685-6. doi: 10.1002/mds.25390. Epub 2013 Apr 16. Mov Disord. 2013. PMID: 23592301 No abstract available.
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
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