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Manganese and the brain.
Tuschl K, Mills PB, Clayton PT. Tuschl K, et al. Among authors: clayton pt. Int Rev Neurobiol. 2013;110:277-312. doi: 10.1016/B978-0-12-410502-7.00013-2. Int Rev Neurobiol. 2013. PMID: 24209443 Review.
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. Among authors: clayton pt. 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
The monoamine neurotransmitter disorders: an expanding range of neurological syndromes.
Kurian MA, Gissen P, Smith M, Heales S Jr, Clayton PT. Kurian MA, et al. Among authors: clayton pt. Lancet Neurol. 2011 Aug;10(8):721-33. doi: 10.1016/S1474-4422(11)70141-7. Lancet Neurol. 2011. PMID: 21777827 Review.
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. Among authors: clayton pt. 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.
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: clayton pt. 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.
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: clayton pt. 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.
HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase.
Ferdinandusse S, Waterham HR, Heales SJ, Brown GK, Hargreaves IP, Taanman JW, Gunny R, Abulhoul L, Wanders RJ, Clayton PT, Leonard JV, Rahman S. Ferdinandusse S, et al. Among authors: clayton pt. Orphanet J Rare Dis. 2013 Dec 4;8:188. doi: 10.1186/1750-1172-8-188. Orphanet J Rare Dis. 2013. PMID: 24299452 Free PMC article.
Tubular aggregates caused by serine active site containing 1 (SERAC1) mutations in a patient with a mitochondrial encephalopathy.
Wedatilake Y, Plagnol V, Anderson G, Paine SM, Clayton PT, Jacques TS, Rahman S. Wedatilake Y, et al. Among authors: clayton pt. Neuropathol Appl Neurobiol. 2015 Apr;41(3):399-402. doi: 10.1111/nan.12190. Neuropathol Appl Neurobiol. 2015. PMID: 25345337 Free PMC article. No abstract available.
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. Among authors: clayton pt. Nat Commun. 2016 May 27;7:11601. doi: 10.1038/ncomms11601. Nat Commun. 2016. PMID: 27231142 Free PMC article.
Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B6-Dependent Epilepsy.
Darin N, Reid E, Prunetti L, Samuelsson L, Husain RA, Wilson M, El Yacoubi B, Footitt E, Chong WK, Wilson LC, Prunty H, Pope S, Heales S, Lascelles K, Champion M, Wassmer E, Veggiotti P, de Crécy-Lagard V, Mills PB, Clayton PT. Darin N, et al. Among authors: clayton pt. Am J Hum Genet. 2016 Dec 1;99(6):1325-1337. doi: 10.1016/j.ajhg.2016.10.011. Am J Hum Genet. 2016. PMID: 27912044 Free PMC article.
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