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Items: 11

1.

Hypermanganesemia due to mutations in SLC39A14: further insights into Mn deposition in the central nervous system.

Marti-Sanchez L, Ortigoza-Escobar JD, Darling A, Villaronga M, Baide H, Molero-Luis M, Batllori M, Vanegas MI, Muchart J, Aquino L, Artuch R, Macaya A, Kurian MA, Dueñas P.

Orphanet J Rare Dis. 2018 Jan 30;13(1):28. doi: 10.1186/s13023-018-0758-x.

2.

Familial manganese-induced neurotoxicity due to mutations in SLC30A10 or SLC39A14.

Mukhopadhyay S.

Neurotoxicology. 2018 Jan;64:278-283. doi: 10.1016/j.neuro.2017.07.030. Epub 2017 Aug 5.

PMID:
28789954
3.

Zebrafish slc30a10 deficiency revealed a novel compensatory mechanism of Atp2c1 in maintaining manganese homeostasis.

Xia Z, Wei J, Li Y, Wang J, Li W, Wang K, Hong X, Zhao L, Chen C, Min J, Wang F.

PLoS Genet. 2017 Jul 10;13(7):e1006892. doi: 10.1371/journal.pgen.1006892. eCollection 2017 Jul.

4.

Manganese-Induced Parkinsonism Is Not Idiopathic Parkinson's Disease: Environmental and Genetic Evidence.

Guilarte TR, Gonzales KK.

Toxicol Sci. 2015 Aug;146(2):204-12. doi: 10.1093/toxsci/kfv099. Review.

5.

Manganese homeostasis in the nervous system.

Chen P, Chakraborty S, Mukhopadhyay S, Lee E, Paoliello MM, Bowman AB, Aschner M.

J Neurochem. 2015 Aug;134(4):601-10. doi: 10.1111/jnc.13170. Epub 2015 Jun 16. Review.

6.

Hepatic myelopathy in a patient with decompensated alcoholic cirrhosis and portal colopathy.

Premkumar M, Bagchi A, Kapoor N, Gupta A, Maurya G, Vatsya S, Kapahtia S, Kar P.

Case Reports Hepatol. 2012;2012:735906. doi: 10.1155/2012/735906. Epub 2012 Dec 18.

7.

Spinal cord involvement in patients with cirrhosis.

Nardone R, Höller Y, Storti M, Lochner P, Tezzon F, Golaszewski S, Brigo F, Trinka E.

World J Gastroenterol. 2014 Mar 14;20(10):2578-85. doi: 10.3748/wjg.v20.i10.2578. Review.

8.

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.

Mov Disord. 2012 Sep 1;27(10):1317-22. doi: 10.1002/mds.25138. Epub 2012 Aug 23.

9.

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.

Am J Hum Genet. 2012 Mar 9;90(3):457-66. doi: 10.1016/j.ajhg.2012.01.018. Epub 2012 Feb 16.

10.

Mutations in SLC30A10 cause parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease.

Quadri M, Federico A, Zhao T, Breedveld GJ, Battisti C, Delnooz C, Severijnen LA, Di Toro Mammarella L, Mignarri A, Monti L, Sanna A, Lu P, Punzo F, Cossu G, Willemsen R, Rasi F, Oostra BA, van de Warrenburg BP, Bonifati V.

Am J Hum Genet. 2012 Mar 9;90(3):467-77. doi: 10.1016/j.ajhg.2012.01.017. Epub 2012 Feb 16.

11.

Case report: a metabolic disorder presenting as pediatric manganism.

Sahni V, Léger Y, Panaro L, Allen M, Giffin S, Fury D, Hamm N.

Environ Health Perspect. 2007 Dec;115(12):1776-9.

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