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Clinical and genetic findings in 26 Italian patients with Lafora disease.
Franceschetti S, Gambardella A, Canafoglia L, Striano P, Lohi H, Gennaro E, Ianzano L, Veggiotti P, Sofia V, Biondi R, Striano S, Gellera C, Annesi G, Madia F, Civitelli D, Rocca FE, Quattrone A, Avanzini G, Minassian B, Zara F. Franceschetti S, et al. Among authors: lohi h. Epilepsia. 2006 Mar;47(3):640-3. doi: 10.1111/j.1528-1167.2006.00479.x. Epilepsia. 2006. PMID: 16529633 Free article.
Glycogen metabolism in tissues from a mouse model of Lafora disease.
Wang W, Lohi H, Skurat AV, DePaoli-Roach AA, Minassian BA, Roach PJ. Wang W, et al. Among authors: lohi h. Arch Biochem Biophys. 2007 Jan 15;457(2):264-9. doi: 10.1016/j.abb.2006.10.017. Epub 2006 Nov 3. Arch Biochem Biophys. 2007. PMID: 17118331 Free PMC article.
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: lohi h. 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. Science. 2005 Jan 7;307(5706):81. doi: 10.1126/science.1102832. Science. 2005. PMID: 15637270
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: lohi h. 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.
253 results