A nonsense mutation in the acid α-glucosidase gene causes Pompe disease in Finnish and Swedish Lapphunds.

por Eija H Seppälä, Arnold J J Reuser, Hannes Lohi
Publicado 2013

Next-generation sequencing in childhood-onset epilepsies: Diagnostic yield and impact on neuronal ceroid lipofuscinosis type 2 (CLN2) disease diagnosis.

por Kimberly Gall, Emanuela Izzo, Eija H Seppälä, Kirsi Alakurtti, Lotta Koskinen, Inka Saarinen, Akashdeep Singh, Samuel Myllykangas, Juha Koskenvuo, Tero-Pekka Alastalo
Publicado 2021

Identification of a novel idiopathic epilepsy locus in Belgian Shepherd dogs.

por 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
Publicado 2012