Blar i Bergen Open Research Archive på forfatter "de Coo, Irenaeus"

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    • 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. ...

    • Using urine to diagnose large-scale mtDNA deletions in adult patients 

      Varhaug, Kristin Nielsen; Sanchez Nido, Gonzalo; de Coo, Irenaeus; Isohanni, Pirjo; Suomalainen, Anu; Tzoulis, Charalampos; Knappskog, Per; Bindoff, Laurence (Journal article; Peer reviewed, 2020)
      Objective: The aim of this study was to evaluate if urinary sediment cells offered a robust alternative to muscle biopsy for the diagnosis of single mtDNA deletions. Methods: Eleven adult patients with progressive ...