• Cerebral Palsy – Early Diagnosis and Intervention Trial: protocol for the prospective multicentre CP-EDIT study with focus on diagnosis, prognostic factors, and intervention 

      Hoei-Hansen, Christina Engel; Weber, Lene; Johansen, Mette; Fabricius, Rebecca; Hansen, Jonas Kjeldbjerg; Viuff, Anne-Cathrine F.; Rønde, Gitte; Hahn, Gitte Holst; Østergaard, Elsebet; Duno, Morten; Larsen, Vibeke Andrée; Madsen, Camilla Gøbel; Røhder, Katrine; Elvrum, Ann-Kristin Gunnes; Laugesen, Britt; Ganz, Melanie; Madsen, Kathrine Skak; Willerslev-Olsen, Maria; Debes, Nanette Mol; Christensen, Jan; Christensen, Robin; Rackauskaite, Gija (Peer reviewed; Journal article, 2023)
      Background Early diagnosis of cerebral palsy (CP) is important to enable intervention at a time when neuroplasticity is at its highest. Current mean age at diagnosis is 13 months in Denmark. Recent research has documented ...
    • Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases 

      Hikmat, Omar; Naess, Karin; Engvall, Martin; Klingenberg, Claus; Rasmussen, Magnhild; Tallaksen, Chantal; Brodtkorb, Eylert; Østergaard, Elsebet; de Coo, Irenaeus F.M.; Pias-Peleteiro, Leticia; Isohanni, Pirjo; Uusimaa, Johanna; Darin, Niklas; Rahman, Shamima; Bindoff, Laurence (Peer reviewed; Journal article, 2020)
      Background Variants in POLG are one of the most common causes of inherited mitochondrial disease. Phenotypic classification of POLG disease has evolved haphazardly making it complicated and difficult to implement in ...