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779 results

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Page 1
Deep intronic GBE1 mutation in manifesting heterozygous patients with adult polyglucosan body disease.
Akman HO, Kakhlon O, Coku J, Peverelli L, Rosenmann H, Rozenstein-Tsalkovich L, Turnbull J, Meiner V, Chama L, Lerer I, Shpitzen S, Leitersdorf E, Paradas C, Wallace M, Schiffmann R, DiMauro S, Lossos A, Minassian BA. Akman HO, et al. Among authors: turnbull j. JAMA Neurol. 2015 Apr;72(4):441-5. doi: 10.1001/jamaneurol.2014.4496. JAMA Neurol. 2015. PMID: 25665141
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: turnbull j. 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.
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. Ann Neurol. 2010 Dec;68(6):925-33. doi: 10.1002/ana.22156. Ann Neurol. 2010. PMID: 21077101
Progressive myoclonus epilepsy.
Girard JM, Turnbull J, Ramachandran N, Minassian BA. Girard JM, et al. Among authors: turnbull j. Handb Clin Neurol. 2013;113:1731-6. doi: 10.1016/B978-0-444-59565-2.00043-5. Handb Clin Neurol. 2013. PMID: 23622396 Review.
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. 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.
Unverricht-Lundborg progressive myoclonus epilepsy in Oman.
Santoshkumar B, Turnbull J, Minassian BA. Santoshkumar B, et al. Among authors: turnbull j. Pediatr Neurol. 2008 Apr;38(4):252-5. doi: 10.1016/j.pediatrneurol.2007.11.006. Pediatr Neurol. 2008. PMID: 18358403
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. Brain. 2012 Sep;135(Pt 9):2684-98. doi: 10.1093/brain/aws205. Brain. 2012. PMID: 22961547 Free PMC article.
779 results