• In-frame deletion in canine PITRM1 is associated with a severe early-onset epilepsy, mitochondrial dysfunction and neurodegeneration 

      Hytönen, Marjo K.; Sarviaho, Riika; Jackson, Christopher; Syrjä, Pernilla; Jokinen, Tarja S.; Matiasek, Kaspar; Rosati, Marco; Dallabona, Cristina; Baruffini, Enrico; Quintero, Ileana; Arumilli, Meharji; Monteuuis, Geoffray; Donner, Jonas; Anttila, Marjukka; Suomalainen, Anu; Bindoff, Laurence Albert; Lohi, Hannes (Journal article; Peer reviewed, 2021)
      We investigated the clinical, genetic, and pathological characteristics of a previously unknown severe juvenile brain disorder in several litters of Parson Russel Terriers. The disease started with epileptic seizures at ...