Blar i forfatter "Tallaksen, Chantal"

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    • 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 ...

    • Late onset myasthenia gravis is associated with HLA DRB1*15:01 in the Norwegian population 

      Maniaol, Angelina; Elsais, Ahmed; Lorentzen, Åslaug Rudjord; Owe, Jone Furulund; Viken, Marte K; Sæther, Hanne Skarpodde; Flåm, Siri Tennebø; Bråthen, Geir; Kampman, Margitta Theodora; Midgard, Rune; Christensen, Marte; Rognerud, Anna Kaja; Kerty, Emilia; Gilhus, Nils Erik; Tallaksen, Chantal; Lie, Benedicte Alexandra; Harbo, Hanne Flinstad (Journal article; Tidsskriftartikkel; Peer reviewed, 2012)
      Acquired myasthenia gravis (MG) is a rare antibody-mediated autoimmune disease caused by impaired neuromuscular transmission, leading to abnormal muscle fatigability. The aetiology is complex, including genetic risk factors of the human leukocyte antigen (HLA) complex and unknown environmental factors. Although associations between the HLA complex and MG are well established, not all involved ...

    • 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 ...

    • Milde phenotype in an adult male With X-linked adrenoleukodystrophy 

      Horn, Morten Andreas; Müller, Karin Brigitte; Ferdinandusse, Sacha; Jørum, Ellen; Mellgren, Svein Ivar; Tallaksen, Chantal (Journal article; Tidsskriftartikkel; Peer reviewed, 2015-12-21)
      Key Clinical Message:<br>X-linked adrenoleukodystrophy may present with a deceptively mild phenotype, even in adult males. Tight collaboration between clinicians, geneticists, biochemists, and other specialists is increasingly required for clarification of diagnosis in cases with atypical presentation.

    • 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, ...