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A missense change in the ATG4D gene links aberrant autophagy to a neurodegenerative vacuolar storage disease.
Kyöstilä K, Syrjä P, Jagannathan V, Chandrasekar G, Jokinen TS, Seppälä EH, Becker D, Drögemüller M, Dietschi E, Drögemüller C, Lang J, Steffen F, Rohdin C, Jäderlund KH, Lappalainen AK, Hahn K, Wohlsein P, Baumgärtner W, Henke D, Oevermann A, Kere J, Lohi H, Leeb T. Kyöstilä K, et al. Among authors: seppala eh. PLoS Genet. 2015 Apr 15;11(4):e1005169. doi: 10.1371/journal.pgen.1005169. eCollection 2015 Apr. PLoS Genet. 2015. PMID: 25875846 Free PMC article.
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. 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.
ADAM23 is a common risk gene for canine idiopathic epilepsy.
Koskinen LL, Seppälä EH, Weissl J, Jokinen TS, Viitmaa R, Hänninen RL, Quignon P, Fischer A, André C, Lohi H. Koskinen LL, et al. Among authors: seppala eh. BMC Genet. 2017 Jan 31;18(1):8. doi: 10.1186/s12863-017-0478-6. BMC Genet. 2017. PMID: 28143391 Free PMC article.
Multiple Changes of Gene Expression and Function Reveal Genomic and Phenotypic Complexity in SLE-like Disease.
Wilbe M, Kozyrev SV, Farias FH, Bremer HD, Hedlund A, Pielberg GR, Seppälä EH, Gustafson U, Lohi H, Carlborg Ö, Andersson G, Hansson-Hamlin H, Lindblad-Toh K. Wilbe M, et al. Among authors: seppala eh. PLoS Genet. 2015 Jun 9;11(6):e1005248. doi: 10.1371/journal.pgen.1005248. eCollection 2015 Jun. PLoS Genet. 2015. PMID: 26057447 Free PMC article.
39 results