Video Upload Options

References

1. Mukhopadhyay S. Familial manganese-induced neurotoxicity due to mutations inSLC30A10 or SLC39A14. Neurotoxicology. 2018 Jan;64:278-283. doi:10.1016/j.neuro.2017.07.030.
2. Mukhtiar K, Ibrahim S, Tuschl K, Mills P. Hypermanganesemia with Dystonia,Polycythemia and Cirrhosis (HMDPC) due to mutation in the SLC30A10 gene. BrainDev. 2016 Oct;38(9):862-5. doi: 10.1016/j.braindev.2016.04.005.
3. 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. Mutations inSLC30A10 cause parkinsonism and dystonia with hypermanganesemia, polycythemia,and chronic liver disease. Am J Hum Genet. 2012 Mar 9;90(3):467-77. doi:10.1016/j.ajhg.2012.01.017.
4. 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. Syndrome of hepatic cirrhosis, dystonia,polycythemia, and hypermanganesemia caused by mutations in SLC30A10, a manganese transporter in man. Am J Hum Genet. 2012 Mar 9;90(3):457-66. doi:10.1016/j.ajhg.2012.01.018.Aug 4;99(2):521.
5. Tuschl K, Clayton PT, Gospe SM Jr, Mills PB. Dystonia/Parkinsonism,Hypermanganesemia, Polycythemia, and Chronic Liver Disease. 2012 Aug 30 [updated 2017 Feb 9]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, StephensK, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University ofWashington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK100241/
6. 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, KaraE, 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, BodamerOA, Enns CA, Hayflick SJ, Clayton PT, Mills PB, Kurian MA, Wilson SW. Mutationsin SLC39A14 disrupt manganese homeostasis and cause childhood-onsetparkinsonism-dystonia. Nat Commun. 2016 May 27;7:11601. doi: 10.1038/ncomms11601.
7. Tuschl K, Mills PB, Parsons H, Malone M, Fowler D, Bitner-Glindzicz M, ClaytonPT. Hepatic cirrhosis, dystonia, polycythaemia and hypermanganesaemia--a newmetabolic disorder. J Inherit Metab Dis. 2008 Apr;31(2):151-63. doi:10.1007/s10545-008-0813-1.