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Jørgen Barth

Omar Hikmat

Guest Researcher
  • E-mailomar.hikmat@uib.no
  • Visitor Address
    Christies gate 12
    5015 Bergen
  • Postal Address
    Postboks 7807
    5020 Bergen
Academic article
  • Show author(s) (2023). Phenotypic spectrum and clinical course of single large-scale mitochondrial DNA deletion disease in the paediatric population: a multicentre study. Journal of Medical Genetics. 65-73.
  • Show author(s) (2022). Renal Phenotype in Mitochondrial Diseases: A Multicenter Study. Kidney Diseases. 103-114.
  • Show author(s) (2022). Mitokondriesykdom forårsaket av m.3243A>G-mutasjonen. Tidsskrift for Den norske legeforening. 6 pages.
  • Show author(s) (2021). Serum biomarkers in primary mitochondrial disorders. Brain Communications.
  • Show author(s) (2021). Expanding the phenotypic spectrum of BCS1L-related mitochondrial disease. Annals of clinical and translational neurology. 2155-2165.
  • Show author(s) (2021). A characteristic occipital epileptiform EEG pattern in ADCK3-related mitochondrial disease. Epileptic disorders. 1-10.
  • Show author(s) (2020). The impact of gender, puberty, and pregnancy in patients with POLG disease. Annals of clinical and translational neurology. 2019-2025.
  • Show author(s) (2020). Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases. The Journal of Inherited Metabolic Disease (JIMD). 726-736.
  • Show author(s) (2020). Polymerase gamma-relatert mitokondriesykdom. Tidsskrift for Den norske legeforening. 1-7.
  • Show author(s) (2020). Mental health and health related quality of life in mitochondrial POLG disease. Mitochondrion (Amsterdam. Print). 95-99.
  • Show author(s) (2020). Diagnostic value of serum biomarkers FGF21 and GDF15 compared to muscle sample in mitochondrial disease. The Journal of Inherited Metabolic Disease (JIMD). 1-12.
  • Show author(s) (2018). Elevated cerebrospinal fluid protein in POLG-related epilepsy: Diagnostic and prognostic implications. Epilepsia. 1595-1602.
  • Show author(s) (2017). The presence of anaemia negatively influences survival in patients with POLG disease. The Journal of Inherited Metabolic Disease (JIMD). 861-866.
  • Show author(s) (2017). The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations. Genetics in Medicine. 1217-1225.
  • Show author(s) (2017). Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases. Annals of Neurology. 1004-1015.
  • Show author(s) (2016). ADCK3 mutations with epilepsy, stroke-like episodes and ataxia: a POLG mimic? European Journal of Neurology. 1188-1194.
  • Show author(s) (2013). CFS in Children and Adolescent: Ten Years of Retrospective Clinical Evaluation. International Journal of Pediatrics. 1-5.
Reader opinion piece
  • Show author(s) (2019). Legers rolle ved mistanke om alvorlig barnemishandling. Tidsskrift for Den norske legeforening. 126-128.
Errata
  • Show author(s) (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). Genetics in Medicine. 1-1.
  • Show author(s) (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). The Journal of Inherited Metabolic Disease (JIMD). 153-153.
Academic literature review
  • Show author(s) (2017). Understanding the epilepsy in POLG related disease. International Journal of Molecular Sciences. 1-8.

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Publications list