Academic article

• Mancuso, Michelangelo; Papadopoulou, Maria T.; Ng, Yi Shiau et al. (2024). Management of seizures in patients with primary mitochondrial diseases: consensus statement from the InterERNs Mitochondrial Working Group. (external link)
• Hepsø, Seline W.; Lee, Maya; Noszka, Kristoffer et al. (2024). Refractory and super-refractory status epilepticus in children and adolescents: A population-based study. (external link)
• Kristensen, Erle; Mathisen, Linda; Berland, Siren et al. (2024). Epidemiology and natural history of POLG disease in Norway: a nationwide cohort study. (external link)
• Hikmat, Omar; Naess, Karin; Engvall, Martin et al. (2024). Status epilepticus in POLG disease: a large multinational study. (external link)
• Björkman, Kristoffer; Vissing, John; Østergaard, Elsebet et al. (2023). Phenotypic spectrum and clinical course of single large-scale mitochondrial DNA deletion disease in the paediatric population: a multicentre study. (external link)
• Varhaug, Kristin Nielsen; Hikmat, Omar; Bindoff, Laurence Albert (2022). Mitokondriesykdom forårsaket av m.3243A>G-mutasjonen. (external link)
• Parasyri, Maria; Brandström, Per; Uusimaa, Johanna et al. (2022). Renal Phenotype in Mitochondrial Diseases: A Multicenter Study. (external link)
• Varhaug, Kristin Nielsen; Hikmat, Omar; Nakkestad, Hanne Linda et al. (2021). Serum biomarkers in primary mitochondrial disorders. (external link)
• Arntsen, Vibeke; Sand, Trond; Hikmat, Omar et al. (2021). A characteristic occipital epileptiform EEG pattern in ADCK3-related mitochondrial disease. (external link)
• Hikmat, Omar; Isohanni, Pirjo; Keshavan, Nandaki et al. (2021). Expanding the phenotypic spectrum of BCS1L-related mitochondrial disease. (external link)
• Hikmat, Omar; Naess, Karin; Engvall, Martin et al. (2020). Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases. (external link)
• Hikmat, Omar; Vederhus, Bente Johanne; Benestad, Merete Røineland et al. (2020). Mental health and health related quality of life in mitochondrial POLG disease. (external link)
• Hikmat, Omar; Varhaug, Kristin Nielsen; Bindoff, Laurence (2020). Polymerase gamma-relatert mitokondriesykdom. (external link)
• Hikmat, Omar; Naess, Karin; Engvall, Martin et al. (2020). The impact of gender, puberty, and pregnancy in patients with POLG disease. (external link)
• Lehtonen, Jenni M.; Auranen, Mari; Darin, Niklas et al. (2020). Diagnostic value of serum biomarkers FGF21 and GDF15 compared to muscle sample in mitochondrial disease. (external link)
• Hikmat, Omar; Naess, Karin; Engvall, Martin et al. (2018). Elevated cerebrospinal fluid protein in POLG-related epilepsy: Diagnostic and prognostic implications. (external link)
• Hikmat, Omar; Tzoulis, Charalampos; Klingenberg, Claus et al. (2017). The presence of anaemia negatively influences survival in patients with POLG disease. (external link)
• Hikmat, Omar; Tzoulis, Charalampos; Chong, Wui K. et al. (2017). The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations. (external link)
• Maas, Roeltje R.; Iwanicka-Pronicka, Katarzyna; Kalkan Uçar, Sema et al. (2017). Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases. (external link)
• Hikmat, Omar; Tzoulis, Charalampos; Knappskog, Per et al. (2016). ADCK3 mutations with epilepsy, stroke-like episodes and ataxia: a POLG mimic?. (external link)
• Elgen, Irene Bircow; Hikmat, Omar Saad Mahmoud; Aspevik, Tora N. et al. (2013). CFS in Children and Adolescent: Ten Years of Retrospective Clinical Evaluation. (external link)

Reader opinion piece

• Stray-Pedersen, Arne; Møller, Claus; de Lange, Charlotte et al. (2019). Legers rolle ved mistanke om alvorlig barnemishandling. (external link)

Errata

• Hikmat, Omar; Tzoulis, Charalampos; Chong, Wui K. et al. (2018). Correction to: The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations (Genetics in Medicine, (2017), 19, 11, (1217-1225), 10.1038/gim.2017.35). (external link)
• Hikmat, Omar; Tzoulis, Charalampos; Klingenberg, Claus et al. (2017). Erratum to: The presence of anaemia negatively influences survival in patients with POLG disease (Journal of Inherited Metabolic Disease, (2017), 40, 6, (861-866), 10.1007/s10545-017-0084-9). (external link)

Academic literature review

• Hikmat, Omar; Eichele, Tom; Tzoulis, Charalampos et al. (2017). Understanding the epilepsy in POLG related disease. (external link)

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