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214 results

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Page 1
Laforin targets malin to glycogen in Lafora progressive myoclonus epilepsy.
Mitra S, Chen B, Wang P, Chown EE, Dear M, Guisso DR, Mariam U, Wu J, Gumusgoz E, Minassian BA. Mitra S, et al. Among authors: minassian ba. Dis Model Mech. 2023 Jan 1;16(1):dmm049802. doi: 10.1242/dmm.049802. Epub 2023 Jan 6. Dis Model Mech. 2023. PMID: 36511140 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: minassian ba. 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: minassian ba. 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: minassian ba. 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. Among authors: minassian ba. 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: minassian ba. Brain. 2012 Sep;135(Pt 9):2684-98. doi: 10.1093/brain/aws205. Brain. 2012. PMID: 22961547 Free PMC article.
214 results