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Retinal Phenotyping of a Murine Model of Lafora Disease.
Vincent A, Ahmed K, Hussein R, Berberovic Z, Tumber A, Zhao X, Minassian BA. Vincent A, et al. Among authors: zhao x. Genes (Basel). 2023 Mar 31;14(4):854. doi: 10.3390/genes14040854. Genes (Basel). 2023. PMID: 37107612 Free PMC article.
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
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
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.
Phosphorylation prevents polyglucosan transport in Lafora disease.
Girard JM, Stone SS, Lohi H, Blaszykowski C, Teixeira C, Turnbull J, Wang A, Draginov A, Wang P, Zhao XC, Ackerley CA, Frankland PW, Minassian BA. Girard JM, et al. Neurology. 2012 Jul 3;79(1):100-2. doi: 10.1212/WNL.0b013e31825dcdac. Epub 2012 May 23. Neurology. 2012. PMID: 22622857 Free PMC article. No abstract available.
Early-onset Lafora body disease.
Turnbull J, Girard JM, Lohi H, Chan EM, Wang P, Tiberia E, Omer S, Ahmed M, Bennett C, Chakrabarty A, Tyagi A, Liu Y, Pencea N, Zhao X, Scherer SW, Ackerley CA, Minassian BA. Turnbull J, et al. Among authors: zhao x. Brain. 2012 Sep;135(Pt 9):2684-98. doi: 10.1093/brain/aws205. Brain. 2012. PMID: 22961547 Free PMC article.
PTG protein depletion rescues malin-deficient Lafora disease in mouse.
Turnbull J, Epp JR, Goldsmith D, Zhao X, Pencea N, Wang P, Frankland PW, Ackerley CA, Minassian BA. Turnbull J, et al. Among authors: zhao x. Ann Neurol. 2014 Mar;75(3):442-6. doi: 10.1002/ana.24104. Epub 2014 Mar 7. Ann Neurol. 2014. PMID: 24419970
Everolimus does not prevent Lafora body formation in murine Lafora disease.
Mishra N, Wang P, Goldsmith D, Zhao X, Xue Y, Christians U, Minassian BA. Mishra N, et al. Among authors: zhao x. Neurol Genet. 2017 Jan 9;3(1):e127. doi: 10.1212/NXG.0000000000000127. eCollection 2017 Feb. Neurol Genet. 2017. PMID: 28097224 Free PMC article. No abstract available.
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