Vitenskapelig artikkel

• Michelangelo Mancuso; Marcello Bellusci; Valerio Carelli et al. (2026). Diagnostic Criteria and Management of MELAS and Stroke-Like Episodes: Consensus-Based Statements. (ekstern lenke)
• Sofia Douzgou Houge; Cecilie Bredrup; Ragnhild Wivestad Jansson et al. (2026). Biallelic loss-of-function variants in DSCAM cause a neurodevelopmental syndrome with nystagmus and retinal dysfunction. (ekstern lenke)
• Erle Kristensen; Karin Naess; Martin Engvall et al. (2025). Liver Involvement in POLG Disease—a Multicentre Cohort Study of 202 Patients. (ekstern lenke)
• Ida Marie Heggem; Gabriela Wale Soto; Hans Jørgen Timm Guthe et al. (2025). The impact of imposter phenomenon: an unmet need in the education of healthcare personnel - a cross-sectional study. (ekstern lenke)
• Oliver Johannes Henning; Noemi Becser Andersen; Fredrik Asztely et al. (2025). Programming in Vagus nerve stimulation therapy: Consensus from a Nordic Delphi Panel. (ekstern lenke)
• Jenny Linnea Victoria Lindroos; Marte-Helene Bjørk; Jacqueline Mallory Cohen et al. (2025). Obstetric and Neonatal Outcomes in Patients With Maternal Myasthenia Gravis : A Nationwide Cohort Study. (ekstern lenke)
• Omar Hikmat; Charalampos Tzoulis; Per Knappskog et al. (2016). ADCK3 mutations with epilepsy, stroke-like episodes and ataxia: a POLG mimic?. (ekstern lenke)
• Julia Neugebauer; Karit Reinson; Marcello Bellusci et al. (2024). Current global vitamin and cofactor prescribing practices for primary mitochondrial diseases: Results of a European reference network survey. (ekstern lenke)
• Omar Hikmat; Karin Naess; Martin Engvall et al. (2018). Elevated cerebrospinal fluid protein in POLG-related epilepsy: Diagnostic and prognostic implications. (ekstern lenke)
• Omar Hikmat; Karin Naess; Martin Engvall et al. (2020). Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases. (ekstern lenke)
• Omar Hikmat; Bente Johanne Vederhus; Merete Røineland Benestad et al. (2020). Mental health and health related quality of life in mitochondrial POLG disease. (ekstern lenke)
• Irene Bircow Elgen; Omar Saad Mahmoud Hikmat; Tora N. Aspevik et al. (2013). CFS in Children and Adolescent: Ten Years of Retrospective Clinical Evaluation. (ekstern lenke)
• Michelangelo Mancuso; Maria T. Papadopoulou; Yi Shiau Ng et al. (2024). Management of seizures in patients with primary mitochondrial diseases: consensus statement from the InterERNs Mitochondrial Working Group. (ekstern lenke)
• Kristin Nielsen Varhaug; Omar Hikmat; Hanne Linda Nakkestad et al. (2021). Serum biomarkers in primary mitochondrial disorders. (ekstern lenke)
• Seline Winsnes Hepsø; Maya Lee; Kristoffer Noszka et al. (2024). Refractory and super-refractory status epilepticus in children and adolescents: A population-based study. (ekstern lenke)
• Roeltje R. Maas; Katarzyna Iwanicka-Pronicka; Sema Kalkan Uçar et al. (2017). Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases. (ekstern lenke)
• Omar Hikmat; Charalampos Tzoulis; Wui K. Chong et al. (2017). The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations. (ekstern lenke)
• Maria Parasyri; Per Brandström; Johanna Uusimaa et al. (2022). Renal Phenotype in Mitochondrial Diseases: A Multicenter Study. (ekstern lenke)
• Omar Hikmat; Charalampos Tzoulis; Claus Klingenberg et al. (2017). The presence of anaemia negatively influences survival in patients with POLG disease. (ekstern lenke)
• Vibeke Arntsen; Trond Sand; Omar Hikmat et al. (2021). A characteristic occipital epileptiform EEG pattern in ADCK3-related mitochondrial disease. (ekstern lenke)
• Kristoffer Björkman; John Vissing; Elsebet Østergaard et al. (2023). Phenotypic spectrum and clinical course of single large-scale mitochondrial DNA deletion disease in the paediatric population: a multicentre study. (ekstern lenke)
• Omar Hikmat; Karin Naess; Martin Engvall et al. (2024). Status epilepticus in POLG disease: a large multinational study. (ekstern lenke)
• Jenni M. Lehtonen; Mari Auranen; Niklas Darin et al. (2020). Diagnostic value of serum biomarkers FGF21 and GDF15 compared to muscle sample in mitochondrial disease. (ekstern lenke)
• Erle Kristensen; Linda Mathisen; Siren Berland et al. (2024). Epidemiology and natural history of POLG disease in Norway: a nationwide cohort study. (ekstern lenke)
• Omar Hikmat; Pirjo Isohanni; Nandaki Keshavan et al. (2021). Expanding the phenotypic spectrum of BCS1L-related mitochondrial disease. (ekstern lenke)
• Omar Hikmat; Kristin Nielsen Varhaug; Laurence Bindoff (2020). Polymerase gamma-relatert mitokondriesykdom. (ekstern lenke)
• Kristin Nielsen Varhaug; Omar Hikmat; Laurence Albert Bindoff (2022). Mitokondriesykdom forårsaket av m.3243A>G-mutasjonen. (ekstern lenke)
• Omar Hikmat; Karin Naess; Martin Engvall et al. (2020). The impact of gender, puberty, and pregnancy in patients with POLG disease. (ekstern lenke)

Leserbrev

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

Rettelse i tidsskrift

• Omar Hikmat; Charalampos Tzoulis; Claus Klingenberg 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). (ekstern lenke)
• Omar Hikmat; Charalampos Tzoulis; Wui K. Chong 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). (ekstern lenke)

Vitenskapelig litteraturgjennomgang

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

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