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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: lappalainen ak. 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.
Molecular Characterization of Three Canine Models of Human Rare Bone Diseases: Caffey, van den Ende-Gupta, and Raine Syndromes.
Hytönen MK, Arumilli M, Lappalainen AK, Owczarek-Lipska M, Jagannathan V, Hundi S, Salmela E, Venta P, Sarkiala E, Jokinen T, Gorgas D, Kere J, Nieminen P, Drögemüller C, Lohi H. Hytönen MK, et al. Among authors: lappalainen ak. PLoS Genet. 2016 May 17;12(5):e1006037. doi: 10.1371/journal.pgen.1006037. eCollection 2016 May. PLoS Genet. 2016. PMID: 27187611 Free PMC article.
Novel protective and risk loci in hip dysplasia in German Shepherds.
Mikkola LI, Holopainen S, Lappalainen AK, Pessa-Morikawa T, Augustine TJP, Arumilli M, Hytönen MK, Hakosalo O, Lohi H, Iivanainen A. Mikkola LI, et al. Among authors: lappalainen ak. PLoS Genet. 2019 Jul 19;15(7):e1008197. doi: 10.1371/journal.pgen.1008197. eCollection 2019 Jul. PLoS Genet. 2019. PMID: 31323019 Free PMC article.
49 results