Blar i forfatter "Schlüter, Katrin Ruth"

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    • 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; Tidsskriftartikkel; Peer reviewed, 2024-03-14)
      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 in the same gene can cause multiple clinical phenotypes. We aimed to characterize repeat expansions in a Norwegian amyotrophic lateral sclerosis cohort. Norwegian amyotrophic ...