• Genetic epidemiology of amyotrophic lateral sclerosis in Norway - a 2-year population based study 

      Olsen, Cathrine Goberg; Busk, Øyvind Løvold; Aanjesen, Tori Navestad; Alstadhaug, Karl Bjørnar; Bjørnå, Ingrid Kristine; Braathen, Geir Julius; Breivik, Kristin Lif; Demic, Natasha; Flemmen, Heidi Øyen; Hallerstig, Erika; HogenEsch, Ineke; Holla, Øystein Lunde; Jøntvedt, Anne Berit; Kampman, Margitta T.; Kleveland, Grethe; Kvernmo, Helene Ballo; Ljøstad, Unn; Maniaol, Angelina; Morsund, Åse Hagen; Nakken, Ola; Novy, Camilla; Rekand, Tiina; Schlüter, Katrin Ruth; Schuler, Stephan; Tveten, Kristian; Tysnes, Ole-Bjørn; Holmøy, Trygve; Høyer, Helle (Journal article; Peer reviewed, 2022)
      Background: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease that affects motor neurons. In Europe, disease-causing genetic variants have been identified in 40-70% of familial ALS patients and approximately ...
    • Repeat expansions in AR, ATXN1, ATXN2 and HTT in Norwegian patients diagnosed with amyotrophic lateral sclerosis 

      Novy, Camilla; Busk, Øyvind; Tysnes, Ole-Bjørn; Landa, Sigve Strand; Aanjesen, Tori Navestad; Alstadhaug, Karl Bjørnar; Bjerknes, Tale Litlere; Bjørnå, Ingrid Kristine; Bråthen, Geir; Dahl, Elin; Demic, Natasha; Fahlström, Maria; Flemmen, Heidi Øyen; Hallerstig, Erika Carina; HogenEsch, Ineke; Kampman, Margitta; Kleveland, Grethe; Kvernmo, Helene Ballo; Ljøstad, Unn; Maniaol, Angelina; Morsund, Aase Hagen; Nakken, Ola; Olsen, Cathrine Goberg; Schlüter, Katrin Ruth; Utvik, May-Sissel; Yaseen, Ryaz; Holla, Øystein Lunde; Holmøy, Trygve; Høyer, Helle (Journal article; Peer reviewed, 2024)
      Genetic repeat expansions cause neuronal degeneration in amyotrophic lateral sclerosis as well as other neurodegenerative disorders such as spinocerebellar ataxia, Huntington’s disease and Kennedy’s disease. Repeat expansions ...