Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

My NCBI Filters
Text availability
Article attribute
Article type
Publication date

Search Results

72 results
Filters applied: . Clear all Results are displayed in a computed author sort order. Results by year timeline is unavailable
Page 1
Manganese and the brain.
Tuschl K, Mills PB, Clayton PT. Tuschl K, et al. Among authors: mills pb. 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: mills pb. 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. Among authors: mills pb. 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: mills pb. 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: mills pb. 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.
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: mills pb. 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: mills pb. 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.
Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency.
Coughlin CR 2nd, Tseng LA, Abdenur JE, Ashmore C, Boemer F, Bok LA, Boyer M, Buhas D, Clayton PT, Das A, Dekker H, Evangeliou A, Feillet F, Footitt EJ, Gospe SM Jr, Hartmann H, Kara M, Kristensen E, Lee J, Lilje R, Longo N, Lunsing RJ, Mills P, Papadopoulou MT, Pearl PL, Piazzon F, Plecko B, Saini AG, Santra S, Sjarif DR, Stockler-Ipsiroglu S, Striano P, Van Hove JLK, Verhoeven-Duif NM, Wijburg FA, Zuberi SM, van Karnebeek CDM. Coughlin CR 2nd, et al. J Inherit Metab Dis. 2020 Nov 16. doi: 10.1002/jimd.12332. Online ahead of print. J Inherit Metab Dis. 2020. PMID: 33200442
RARS2 mutations in a sibship with infantile spasms.
Ngoh A, Bras J, Guerreiro R, Meyer E, McTague A, Dawson E, Mankad K, Gunny R, Clayton P, Mills PB, Thornton R, Lai M, Forsyth R, Kurian MA. Ngoh A, et al. Among authors: mills pb. Epilepsia. 2016 May;57(5):e97-e102. doi: 10.1111/epi.13358. Epub 2016 Apr 8. Epilepsia. 2016. PMID: 27061686 Free PMC article.
Mutations in TRAPPC11 are associated with a congenital disorder of glycosylation.
Matalonga L, Bravo M, Serra-Peinado C, García-Pelegrí E, Ugarteburu O, Vidal S, Llambrich M, Quintana E, Fuster-Jorge P, Gonzalez-Bravo MN, Beltran S, Dopazo J, Garcia-Garcia F, Foulquier F, Matthijs G, Mills P, Ribes A, Egea G, Briones P, Tort F, Girós M. Matalonga L, et al. Hum Mutat. 2017 Feb;38(2):148-151. doi: 10.1002/humu.23145. Epub 2016 Nov 26. Hum Mutat. 2017. PMID: 27862579
72 results
You have reached the last page of results. A maximum of 10,000 results are available.
Jump to page
Feedback