Blar i forfatter "Rasmussen, Magnhild"

Viser treff 1-4 av 4

    • Epidemiology and natural history in 101 subjects with FKRP-related limb-girdle muscular dystrophy R9. The Norwegian LGMDR9 cohort study (2020) 

      Jensen, Synnøve; Müller, Kai Ivar; Mellgren, Svein Ivar; Bindoff, Laurence Albert; Rasmussen, Magnhild; Ørstavik, Kristin; Jonsrud, Christoffer; Tveten, Kristian; Nilssen, Øivind; Van Ghelue, Marijke; Arntzen, Kjell Arne (Journal article; Tidsskriftartikkel; Peer reviewed, 2022-11-25)
      We aimed to investigate the epidemiology and natural history of FKRP-related limb-girdle muscular dystrophy R9 (LGMDR9) in Norway. We identified 153 genetically confirmed subjects making the overall prevalence 2.84/100,000, the highest reported figure worldwide. Of the 153 subjects, 134 (88 %) were homozygous for FKRP c.826C>A giving a carrier frequency for this variant of 1/101 in Norway. Clinical ...

    • 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; Tidsskriftartikkel; Peer reviewed, 2020-09-18)
      <i>Objective</i> - To study the impact of gender, puberty, and pregnancy on the expression of POLG disease, one of the most common mitochondrial diseases known.<p> <p><i>Methods</i> - Clinical, laboratory, and genetic data were collected retrospectively from 155 patients with genetically confirmed POLG disease recruited from seven European countries. We used the available data to study the impact ...

    • 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; Tidsskriftartikkel; Peer reviewed, 2020-09-23)
      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 HealthSurvey (RAND-36). Wefound increased scores in all nine subscales of SCL-90-R, particularly phobic anxiety, depression and somatization. Further, patients reported considerably lower scores in all RAND-36 domains. This study revealed a ...

    • 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; Tidsskriftartikkel; Peer reviewed, 2020-01-06)
      <i>Background</i> - Variants in <i>POLG</i> 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 everyday clinical practise. The aim of our study was to simplify the classification and facilitate better clinical recognition.<p><p> <i>Methods</i> - A multinational, ...