Browsing Bergen Open Research Archive by Author "Sexton, Adrienne"
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Genetic Dominant Variants in STUB1, Segregating in Families with SCA48, Display In Vitro Functional Impairments Indistinctive from Recessive Variants Associated with SCAR16
Pakdaman, Yasaman; Berland, Siren; Bustad, Helene J.; Erdal, Sigrid; Thompson, Bryony A.; James, Paul A.; Power, Kjersti; Ellingsen, Ståle; Krooni, Martin; Berge, Line Iden; Sexton, Adrienne; Bindoff, Laurence Albert; Knappskog, Per Morten; Johansson, Stefan; Aukrust, Ingvild (Journal article; Peer reviewed, 2021)Variants in STUB1 cause both autosomal recessive (SCAR16) and dominant (SCA48) spinocerebellar ataxia. Reports from 18 STUB1 variants causing SCA48 show that the clinical picture includes later-onset ataxia with a cerebellar ...