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  1. Article

    Open Access

    Status epilepticus in POLG disease: a large multinational study

    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-threat...

    Omar Hikmat, Karin Naess, Martin Engvall, Claus Klingenberg… in Journal of Neurology (2024)

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  2. No Access

    Chapter

    Diseases of DNA Polymerase Gamma

    Polymerase gamma (Polγ) is the DNA-dependent DNA polymerase responsible for replicating mitochondrial DNA. The enzyme is a trimer and comprises one catalytic subunit (POLG), which contains the polymerase activ...

    Omar Hikmat, Pirjo Isohanni, Anu Suomalainen… in Diagnosis and Management of Mitochondrial … (2019)

  3. Article

    Erratum to: The presence of anaemia negatively influences survival in patients with POLG disease

    Omar Hikmat, Charalampos Tzoulis… in Journal of Inherited Metabolic Disease (2018)

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    Article

    The presence of anaemia negatively influences survival in patients with POLG disease

    Mitochondria play an important role in iron metabolism and haematopoietic cell homeostasis. Recent studies in mice showed that a mutation in the catalytic subunit of polymerase gamma (POLG) was associated with ha...

    Omar Hikmat, Tzoulis Charalampos… in Journal of Inherited Metabolic Disease (2017)