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LGI2 truncation causes a remitting focal epilepsy in dogs.
Seppälä EH, Jokinen TS, Fukata M, Fukata Y, Webster MT, Karlsson EK, Kilpinen SK, Steffen F, Dietschi E, Leeb T, Eklund R, Zhao X, Rilstone JJ, Lindblad-Toh K, Minassian BA, Lohi H. Seppälä EH, et al. Among authors: minassian ba. PLoS Genet. 2011 Jul;7(7):e1002194. doi: 10.1371/journal.pgen.1002194. Epub 2011 Jul 28. PLoS Genet. 2011. PMID: 21829378 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: minassian ba. Science. 2005 Jan 7;307(5706):81. doi: 10.1126/science.1102832. Science. 2005. PMID: 15637270
Sacred disease secrets revealed: the genetics of human epilepsy.
Turnbull J, Lohi H, Kearney JA, Rouleau GA, Delgado-Escueta AV, Meisler MH, Cossette P, Minassian BA. Turnbull J, et al. Among authors: minassian ba. Hum Mol Genet. 2005 Sep 1;14(17):2491-500. doi: 10.1093/hmg/ddi250. Epub 2005 Jul 27. Hum Mol Genet. 2005. PMID: 16049035 Corrected and republished. Review.
Sacred disease secrets revealed: the genetics of human epilepsy.
Turnbull J, Lohi H, Kearney JA, Rouleau GA, Delgado-Escueta AV, Meisler MH, Cossette P, Minassian BA. Turnbull J, et al. Among authors: minassian ba. Hum Mol Genet. 2005 Oct 15;14 Spec No. 2:2491-2500. Hum Mol Genet. 2005. PMID: 16278970 Review.
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: minassian ba. 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.
222 results