Browsing Bergen Open Research Archive by Author "Hikmat, Omar"

Now showing items 1-9 of 9

    • ADCK3 mutations with epilepsy, stroke-like episodes and ataxia: a POLG mimic? 

      Hikmat, Omar; Tzoulis, Charalampos; Knappskog, Per; Johansson, Stefan; Boman, Helge; Sztromwasser, Pawel Szymon; Lien, Espen; Brodtkorb, Eylert; Ghezzi, Daniele; Bindoff, Laurence (Peer reviewed; Journal article, 2016-07)
      Background and purpose: Defects of coenzyme Q10 (CoQ10) metabolism cause a variety of disorders ranging from isolated myopathy to multisystem involvement. ADCK3 is one of several genes associated with CoQ10 deficiency that ...

    • Diagnostic value of serum biomarkers FGF21 and GDF15 compared to muscle sample in mitochondrial disease 

      Lehtonen, Jenni M.; Auranen, Mari; Darin, Niklas; Sofou, Kalliopi; Bindoff, Laurence; Hikmat, Omar; Uusimaa, Johanna; Vieira, Paivi; Tulinius, Már; Lönnqvist, Tuula; de Coo, Irenaeus F.; Suomalainen, Anu; Isohanni, Pirjo (Journal article; Peer reviewed, 2021)
      The aim of this study was to compare the value of serum biomarkers, fibroblast growth factor 21 (FGF21) and growth differentiation factor 15 (GDF15), with histological analysis of muscle in the diagnosis of mitochondrial ...

    • Expanding the phenotypic spectrum of BCS1L-related mitochondrial disease 

      Hikmat, Omar; Isohanni, Pirjo; Keshavan, Nandaki; Ferla, Matteo P.; Fassone, Elisa; Abbott, Mary-Alice; Bellusci, Marcello; Darin, Niklas; Dimmock, David; Ghezzi, Daniele; Houlden, Henry; Invernizzi, Federica; Kamarus Jaman, Nazreen B.; Kurian, Manju A.; Morava, Eva; Naess, Karin; Ortigoza-Escobar, Juan Darío; Parikh, Sumit; Pennisi, Alessandra; Barcia, Giulia; Tylleskär, Karin; Brackman, Damien; Wortmann, Saskia B.; Taylor, Jenny C.; Bindoff, Laurence Albert; Fellman, Vineta; Rahman, Shamima (Journal article; Peer reviewed, 2021)
      Objective To delineate the full phenotypic spectrum of BCS1L-related disease, provide better understanding of the genotype–phenotype correlations and identify reliable prognostic disease markers. Methods We performed ...

    • The impact of gender, puberty, and pregnancy in patients with POLG disease 

      Hikmat, Omar; Naess, Karin; Engvall, Martin; Klingenberg, Claus; Rasmussen, Magnhild; Tallaksen, Chantal; Samsonsen, Christian; Brodtkorb, Eylert; Ostergaard, Elsebet; de Coo, Rene; Pias-Peleteiro, Leticia; Isohanni, Pirjo; Uusimaa, Johanna; Darin, Niklas; Rahman, Shamima; Bindoff, Laurence (Journal article; Peer reviewed, 2020)
      Objective To study the impact of gender, puberty, and pregnancy on the expression of POLG disease, one of the most common mitochondrial diseases known. Methods Clinical, laboratory, and genetic data were collected ...

    • Mental health and health related quality of life in mitochondrial POLG disease 

      Hikmat, Omar; Vederhus, Bente Johanne; Benestad, Merete Roineland; Engeset, Ida Malen E.; Klingenberg, Claus; Rasmussen, Magnhild; Tallaksen, Chantal; Brodtkorb, Eylert; Elgen, Irene Bircow; Bindoff, Laurence (Journal article; Peer reviewed, 2020)
      We aimed to assess the impact of POLG disease on mental health and quality of life in 15 patients using the Symptom Checklist-90-R (SCL-90-R) and Short-Form 36 Health Survey (RAND-36). We found increased scores in all nine ...

    • Mitokondriesykdom forårsaket av m.3243A>G-mutasjonen 

      Varhaug, Kristin Nielsen; Hikmat, Omar; Bindoff, Laurence Albert (Journal article; Peer reviewed, 2022)
      Mitokondriesykdom er blant de vanligste metabolske sykdommene og er relevant for mange medisinske spesialiteter. Denne kliniske oversiktsartikkelen omtaler en av de vanligste mutasjonene bak mitokondriesykdom: m.3243A>G. ...

    • Phenotypic spectrum and clinical course of single large-scale mitochondrial DNA deletion disease in the paediatric population: a multicentre study 

      Björkman, Kristoffer; Vissing, John; Østergaard, Elsebet; Bindoff, Laurence Albert; de Coo, Irenaeus F M; Engvall, Martin; Hikmat, Omar; Isohanni, Pirjo; Kollberg, Gittan; Lindberg, Christopher; Majamaa, Kari; Naess, Karin; Uusimaa, Johanna; Tulinius, Mar; Darin, Niklas (Journal article; Peer reviewed, 2023)
      Background: Large-scale mitochondrial DNA deletions (LMD) are a common genetic cause of mitochondrial disease and give rise to a wide range of clinical features. Lack of longitudinal data means the natural history remains ...

    • The phenotypic spectrum of polymerase gamma (POLG) disease from birth to late adulthood 

      Hikmat, Omar (Doctoral thesis, 2020-09-25)
      Variants in POLG, the gene encoding the catalytic subunit of DNA-polymerase gamma (polγ), the enzyme that replicates and repairs the mitochondrial genome, are among the most common causes of inherited mitochondrial disease. ...

    • 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 (Journal article; Peer reviewed, 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 ...