Now showing items 1-2 of 2

  • Skogseid, Inger M; Røsby, Oddveig; Konglund, Ane; Connelly, James P; Nedregaard, Bård; Jablonski, Greg E; Kvernmo, Nadja; Stray-Pedersen, Asbjørg; Glover, Joel C (Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2018)
    Background Dystonia-deafness syndrome is a well-known clinical entity, with sensorineural deafness typically manifesting earlier than dystonia. ACTB p.Arg183Trp heterozygosity has been reported in six ...
  • Heimdal, Ketil; Sanchez-Guixé, Monica; Aukrust, Ingvild; Bollerslev, Jens; Bruland, Ove; Jablonski, Greg E; Erichsen, Anne K; Gude, Einar; Koht, Jeanette A; Erdal, Sigrid; Fiskerstrand, Torunn; Haukanes, Bjørn I; Boman, Helge; Bjørkhaug, Lise; Tallaksen, Chantal M; Knappskog, Per M; Johansson, Stefan (Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2014)
    Background A subset of hereditary cerebellar ataxias is inherited as autosomal recessive traits (ARCAs). Classification of recessive ataxias due to phenotypic differences in the cerebellum and cerebellar ...