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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 1
2003 4
2004 2
2005 3
2008 4
2009 3
2010 3
2011 1
2012 3
2013 3
2014 1
2016 2
2021 1
2024 0

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31 results

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Page 1
Lafora disease.
Turnbull J, Tiberia E, Striano P, Genton P, Carpenter S, Ackerley CA, Minassian BA. Turnbull J, et al. Among authors: ackerley ca. Epileptic Disord. 2016 Sep 1;18(S2):38-62. doi: 10.1684/epd.2016.0842. Epileptic Disord. 2016. PMID: 27702709 Free PMC article. Review.
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: ackerley ca. Brain. 2012 Sep;135(Pt 9):2684-98. doi: 10.1093/brain/aws205. Brain. 2012. PMID: 22961547 Free PMC article.
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. Among authors: ackerley ca. Science. 2005 Jan 7;307(5706):81. doi: 10.1126/science.1102832. Science. 2005. PMID: 15637270
Deficiency of a glycogen synthase-associated protein, Epm2aip1, causes decreased glycogen synthesis and hepatic insulin resistance.
Turnbull J, Tiberia E, Pereira S, Zhao X, Pencea N, Wheeler AL, Yu WQ, Ivovic A, Naranian T, Israelian N, Draginov A, Piliguian M, Frankland PW, Wang P, Ackerley CA, Giacca A, Minassian BA. Turnbull J, et al. Among authors: ackerley ca. J Biol Chem. 2013 Nov 29;288(48):34627-37. doi: 10.1074/jbc.M113.483198. Epub 2013 Oct 18. J Biol Chem. 2013. PMID: 24142699 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: ackerley ca. Ann Neurol. 2010 Dec;68(6):925-33. doi: 10.1002/ana.22156. Ann Neurol. 2010. PMID: 21077101
Inhibiting glycogen synthesis prevents Lafora disease in a mouse model.
Pederson BA, Turnbull J, Epp JR, Weaver SA, Zhao X, Pencea N, Roach PJ, Frankland PW, Ackerley CA, Minassian BA. Pederson BA, et al. Among authors: ackerley ca. Ann Neurol. 2013 Aug;74(2):297-300. doi: 10.1002/ana.23899. Ann Neurol. 2013. PMID: 23913475 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: ackerley ca. Nat Genet. 2003 Oct;35(2):125-7. doi: 10.1038/ng1238. Epub 2003 Sep 7. Nat Genet. 2003. PMID: 12958597
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: ackerley ca. Ann Neurol. 2014 Mar;75(3):442-6. doi: 10.1002/ana.24104. Epub 2014 Mar 7. Ann Neurol. 2014. PMID: 24419970
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: ackerley ca. 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.
31 results