Blar i Bergen Open Research Archive på forfatter "Majamaa, Kari"
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Phenotypic spectrum and clinical course of single large-scale mitochondrial DNA deletion disease in the paediatric population: a multicentre study
Björkman, Kristoffer; Vissing, John; Østergaard, Elsebet; Bindoff, Laurence Albert; de Coo, Irenaeus F M; Engvall, Martin; Hikmat, Omar; Isohanni, Pirjo; Kollberg, Gittan; Lindberg, Christopher; Majamaa, Kari; Naess, Karin; Uusimaa, Johanna; Tulinius, Mar; Darin, Niklas (Journal article; Peer reviewed, 2023)Background: Large-scale mitochondrial DNA deletions (LMD) are a common genetic cause of mitochondrial disease and give rise to a wide range of clinical features. Lack of longitudinal data means the natural history remains ... -
Status epilepticus in POLG disease: a large multinational study
Hikmat, Omar; Naess, Karin; Engvall, Martin; Klingenberg, Claus Andreas; Rasmussen, Magnhild; Brodtkorb, Eylert; Ostergaard, Elsebet; de Coo, Irenaeus; Pias-Peleteiro, Leticia; Isohanni, Pirjo; Uusimaa, Johanna; Majamaa, Kari; Kärppä, Mikko; Ortigoza-Escobar, Juan Dario; Tangeraas, Trine; Berland, Siren; Harrison, Emma; Biggs, Heather; Horvath, Rita; Darin, Niklas; Rahman, Shamima; Bindoff, Laurence Albert (Journal article; Peer reviewed, 2024)We aimed to provide a detailed phenotypic description of status epilepticus (SE) in a large cohort of patients with POLG disease and identify prognostic biomarkers to improve the management of this life-threatening condition. ...