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Syrjä, Pernilla; Palviainen, Mari; Jokinen, Tarja; Kyöstilä, Kaisa; Lohi, Hannes; Roosje, Petra; Anderegg, Linda; Leeb, Tosso; Sukura, Antti; Eskelinen, Eeva-Liisa (2020). Altered Basal Autophagy Affects Extracellular Vesicle Release in Cells of Lagotto Romagnolo Dogs With a Variant ATG4D. Veterinary pathology, 57(6), pp. 926-935. Sage 10.1177/0300985820959243
Störk, Theresa; Nessler, Jasmin; Anderegg, Linda; Hünerfauth, Enrice; Schmutz, Isabelle; Jagannathan, Vidya; Kyöstilä, Kaisa; Lohi, Hannes; Baumgärtner, Wolfgang; Tipold, Andrea; Leeb, Tosso (2019). TSEN54 missense variant in Standard Schnauzers with leukodystrophy. PLoS genetics, 15(10), e1008411. Public Library of Science 10.1371/journal.pgen.1008411
Anderegg, Linda; Im Hof Gut, Michelle; Hetzel, Udo; Howerth, Elizabeth W; Leuthard, Fabienne Nadja; Kyöstilä, Kaisa; Lohi, Hannes; Pettitt, Louise; Mellersh, Cathryn; Minor, Katie M; Mickelson, James R; Batcher, Kevin; Bannasch, Danika; Jagannathan, Vidya; Leeb, Tosso (2019). NME5 frameshift variant in Alaskan Malamutes with primary ciliary dyskinesia. PLoS genetics, 15(9), e1008378. Public Library of Science 10.1371/journal.pgen.1008378
Syrjä, Pernilla; Anwar, Tahira; Jokinen, Tarja; Kyöstilä, Kaisa; Jäderlund, Karin Hultin; Cozzi, Francesca; Rohdin, Cecilia; Hahn, Kerstin; Wohlsein, Peter; Baumgärtner, Wolfgang; Henke, Diana; Oevermann, Anna; Sukura, Antti; Leeb, Tosso; Lohi, Hannes; Eskelinen, Eeva-Liisa (2017). Basal Autophagy Is Altered in Lagotto Romagnolo Dogs with an ATG4D Mutation. Veterinary pathology, 54(6), pp. 953-963. American College of Veterinary Pathologists 10.1177/0300985817712793
Kyöstilä, Kaisa; Syrjä, Pernilla; Jagannathan, Vidhya; Chandrasekar, Gayathri; Jokinen, Tarja S; Seppälä, Eija H; Becker, Doreen; Drögemüller, Michaela; Dietschi, Elisabeth; Drögemüller, Cord; Lang, Johann; Steffen, Frank; Rohdin, Cecilia; Jäderlund, Karin H; Lappalainen, Anu K; Hahn, Kerstin; Wohlsein, Peter; Baumgärtner, Wolfgang; Henke, Diana; Oevermann, Anna; ... (2015). A Missense Change in the ATG4D Gene Links Aberrant Autophagy to a Neurodegenerative Vacuolar Storage Disease. PLoS genetics, 11(4), e1005169. Public Library of Science 10.1371/journal.pgen.1005169
