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Mutations in NHLRC1 cause progressive myoclonus epilepsy.
Chan EM, Young EJ, Ianzano L, Munteanu I, Zhao X, Christopoulos CC, Avanzini G, Elia M, Ackerley CA, Jovic NJ, Bohlega S, Andermann E, Rouleau GA, Delgado-Escueta AV, Minassian BA, Scherer SW. Chan EM, et al. Among authors: zhao x. Nat Genet. 2003 Oct;35(2):125-7. doi: 10.1038/ng1238. Epub 2003 Sep 7. Nat Genet. 2003. PMID: 12958597
Expanded repeat in canine epilepsy.
Lohi H, Young EJ, Fitzmaurice SN, Rusbridge C, Chan EM, Vervoort M, Turnbull J, Zhao XC, Ianzano L, Paterson AD, Sutter NB, Ostrander EA, André C, Shelton GD, Ackerley CA, Scherer SW, Minassian BA. Lohi H, et al. Science. 2005 Jan 7;307(5706):81. doi: 10.1126/science.1102832. Science. 2005. PMID: 15637270
Abnormal metabolism of glycogen phosphate as a cause for Lafora disease.
Tagliabracci VS, Girard JM, Segvich D, Meyer C, Turnbull J, Zhao X, Minassian BA, Depaoli-Roach AA, Roach PJ. Tagliabracci VS, et al. Among authors: zhao x. J Biol Chem. 2008 Dec 5;283(49):33816-25. doi: 10.1074/jbc.M807428200. Epub 2008 Oct 13. J Biol Chem. 2008. PMID: 18852261 Free PMC article.
Glycogen hyperphosphorylation underlies lafora body formation.
Turnbull J, Wang P, Girard JM, Ruggieri A, Wang TJ, Draginov AG, Kameka AP, Pencea N, Zhao X, Ackerley CA, Minassian BA. Turnbull J, et al. Among authors: zhao x. Ann Neurol. 2010 Dec;68(6):925-33. doi: 10.1002/ana.22156. Ann Neurol. 2010. PMID: 21077101
Lafora bodies in skeletal muscle are fiber type specific.
Turnbull J, Girard JM, Pencea N, Zhao X, Graham TE, Wang P, Ackerley CA, Minassian BA. Turnbull J, et al. Among authors: zhao x. Neurology. 2011 May 10;76(19):1674-6. doi: 10.1212/WNL.0b013e318219faf6. Epub 2011 Mar 30. Neurology. 2011. PMID: 21451149 Free PMC article. No abstract available.
PTG depletion removes Lafora bodies and rescues the fatal epilepsy of Lafora disease.
Turnbull J, DePaoli-Roach AA, Zhao X, Cortez MA, Pencea N, Tiberia E, Piliguian M, Roach PJ, Wang P, Ackerley CA, Minassian BA. Turnbull J, et al. Among authors: zhao x. PLoS Genet. 2011 Apr;7(4):e1002037. doi: 10.1371/journal.pgen.1002037. Epub 2011 Apr 28. PLoS Genet. 2011. PMID: 21552327 Free PMC article.
51,995 results
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