A nonsense mutation in the acid α-glucosidase gene causes Pompe disease in Finnish and Swedish Lapphunds. by Eija H Seppälä, Arnold J J Reuser, Hannes Lohi

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A SEL1L mutation links a canine progressive early-onset cerebellar ataxia to the endoplasmic reticulum-associated protein degradation (ERAD) machinery. by Kaisa Kyöstilä, Sigitas Cizinauskas, Eija H Seppälä, Esko Suhonen, Janis Jeserevics, Antti Sukura, Pernilla Syrjä, Hannes Lohi

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A novel form of progressive retinal atrophy in Swedish vallhund dogs. by Ann E Cooper, Saija Ahonen, Jessica S Rowlan, Alison Duncan, Eija H Seppälä, Päivi Vanhapelto, Hannes Lohi, András M Komáromy

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Case reports of two pedigrees with recessive arrhythmogenic right ventricular cardiomyopathy associated with homozygous Thr335Ala variant in DSG2 by Sami Qadri, Olli Anttonen, Juho Viikilä, Eija H. Seppälä, Samuel Myllykangas, Tero-Pekka Alastalo, Miia Holmström, Tiina Heliö, Juha W. Koskenvuo

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Next-generation sequencing in childhood-onset epilepsies: Diagnostic yield and impact on neuronal ceroid lipofuscinosis type 2 (CLN2) disease diagnosis. by Kimberly Gall, Emanuela Izzo, Eija H Seppälä, Kirsi Alakurtti, Lotta Koskinen, Inka Saarinen, Akashdeep Singh, Samuel Myllykangas, Juha Koskenvuo, Tero-Pekka Alastalo

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Identification of a novel idiopathic epilepsy locus in Belgian Shepherd dogs. by Eija H Seppälä, Lotta L E Koskinen, Christina H Gulløv, Päivi Jokinen, Peter Karlskov-Mortensen, Luciana Bergamasco, Izabella Baranowska Körberg, Sigitas Cizinauskas, Anita M Oberbauer, Mette Berendt, Merete Fredholm, Hannes Lohi

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Heterozygous junctophilin-2 (JPH2) p.(Thr161Lys) is a monogenic cause for HCM with heart failure. by Sari U M Vanninen, Krista Leivo, Eija H Seppälä, Katriina Aalto-Setälä, Olli Pitkänen, Piia Suursalmi, Antti-Pekka Annala, Ismo Anttila, Tero-Pekka Alastalo, Samuel Myllykangas, Tiina M Heliö, Juha W Koskenvuo

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LGI2 truncation causes a remitting focal epilepsy in dogs. by Eija H Seppälä, Tarja S Jokinen, Masaki Fukata, Yuko Fukata, Matthew T Webster, Elinor K Karlsson, Sami K Kilpinen, Frank Steffen, Elisabeth Dietschi, Tosso Leeb, Ranja Eklund, Xiaochu Zhao, Jennifer J Rilstone, Kerstin Lindblad-Toh, Berge A Minassian, Hannes Lohi

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A truncating mutation in ATP13A2 is responsible for adult-onset neuronal ceroid lipofuscinosis in Tibetan terriers by Fabiana H.G. Farias, Rong Zeng, Gary S. Johnson, Fred A. Wininger, Jeremy F. Taylor, Robert D. Schnabel, Stephanie D. McKay, Douglas N. Sanders, Hannes Lohi, Eija H. Seppälä, Claire M. Wade, Kerstin Lindblad-Toh, Dennis P. O'Brien, Martin L. Katz

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A missense change in the ATG4D gene links aberrant autophagy to a neurodegenerative vacuolar storage disease. by Kaisa Kyöstilä, Pernilla Syrjä, Vidhya Jagannathan, Gayathri Chandrasekar, Tarja S Jokinen, Eija H Seppälä, Doreen Becker, Michaela Drögemüller, Elisabeth Dietschi, Cord Drögemüller, Johann Lang, Frank Steffen, Cecilia Rohdin, Karin H Jäderlund, Anu K Lappalainen, Kerstin Hahn, Peter Wohlsein, Wolfgang Baumgärtner, Diana Henke, Anna Oevermann, Juha Kere, Hannes Lohi, Tosso Leeb

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Identification of genomic regions associated with phenotypic variation between dog breeds using selection mapping. by Amaury Vaysse, Abhirami Ratnakumar, Thomas Derrien, Erik Axelsson, Gerli Rosengren Pielberg, Snaevar Sigurdsson, Tove Fall, Eija H Seppälä, Mark S T Hansen, Cindy T Lawley, Elinor K Karlsson, LUPA Consortium, Danika Bannasch, Carles Vilà, Hannes Lohi, Francis Galibert, Merete Fredholm, Jens Häggström, Ake Hedhammar, Catherine André, Kerstin Lindblad-Toh, Christophe Hitte, Matthew T Webster

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Biallelic loss-of-function in NRAP is a cause of recessive dilated cardiomyopathy. by Juha W Koskenvuo, Inka Saarinen, Saija Ahonen, Johanna Tommiska, Sini Weckström, Eija H Seppälä, Sari Tuupanen, Tiia Kangas-Kontio, Jennifer Schleit, Krista Heliö, Julie Hathaway, Anders Gummesson, Pia Dahlberg, Tiina H Ojala, Ville Vepsäläinen, Ville Kytölä, Mikko Muona, Johanna Sistonen, Pertteli Salmenperä, Massimiliano Gentile, Jussi Paananen, Samuel Myllykangas, Tero-Pekka Alastalo, Tiina Heliö

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