Blar i Bergen Open Research Archive på forfatter "Fiskerstrand, Torunn"

Viser treff 1-6 av 6

    • Comparison of pre-analytical conditions for quantification of serotonin in platelet-poor plasma 

      Volkmann, Hilde Løland Von; Brønstad, Ingeborg; Fiskerstrand, Torunn; Gudbrandsen, Oddrun Anita (Peer reviewed; Journal article, 2019)
      Background: Reported concentrations of serotonin in platelet-poor plasma (PPP) in healthy subjects vary widely due to different pre-analytical procedures. Aim: To examine how different pre-analytical conditions affect the ...

    • Friedreich ataxia in Norway - An epidemiological, molecular and clinical study Rare neurological diseases 

      Wedding, Iselin Marie; Kroken, Mette; Henriksen, Sandra Pilar; Selmer, Kaja Kristine; Fiskerstrand, Torunn; Knappskog, Per; Berge, Tone; Tallaksen, Chantal (Peer reviewed; Journal article, 2015-09-04)
      Background: Friedreich ataxia is an autosomal recessive hereditary spinocerebellar disorder, characterized by progressive limb and gait ataxia due to proprioceptive loss, often complicated by cardiomyopathy, diabetes and ...

    • The intronic BRCA1 c.5407-25T>A variant causing partly skipping of exon 23—a likely pathogenic variant with reduced penetrance? 

      Vetti, Hildegunn Høberg; Ognedal, Elisabet; Buisson, Adrien; Vamre, Tone Bøe Aaman; Ariansen, Sarah; Hoover, Jacqueline M.; Eide, Geir Egil; Houge, Gunnar; Fiskerstrand, Torunn; Haukanes, Bjørn Ivar; Bjorvatn, Cathrine; Knappskog, Per Morten (Peer reviewed; Journal article, 2020-03-20)
      Rare sequence variants in the non-coding part of the BRCA genes are often reported as variants of uncertain significance (VUS), which leave patients and doctors in a challenging position. The aim of this study was to ...

    • Plasma levels of guanylins are reduced in patients with Crohn’s disease 

      Volkmann, Hilde Løland Von; Brønstad, Ingeborg; Tronstad, Rune Rose; Dizdar, Vernesa; Nylund, Kim; Hanevik, Kurt; Hausken, Trygve; Gilja, Odd Helge; Fiskerstrand, Torunn (Journal article; Peer reviewed, 2020)
      Background: Guanylin (GN) and uroguanylin (UGN) are endogenous ligands for the intestinal receptor guanylate cyclase C (GC-C), an important regulator of intestinal fluid homeostasis. Gene expression and protein levels of ...

    • Prolonged intestinal transit and diarrhea in patients with an activating GUCY2C mutation 

      Volkmann, Hilde Løland Von; Brønstad, Ingeborg; Gilja, Odd Helge; Tronstad, Rune Rose; Sangnes, Dag André; Nortvedt, Ragnar; Hausken, Trygve; Dimcevski, Georg Gjorgji; Fiskerstrand, Torunn; Nylund, Kim (Peer reviewed; Journal article, 2017)
      Introduction: Increased intestinal hydration by activation of the epithelial enzyme linked receptor guanylate cyclase C (GC-C) is a pharmacological principle for treating constipation. Activating mutations in the GUCY2C ...

    • STUB1 mutations in autosomal recessive ataxias - evidence for mutation-specific clinical heterogeneity 

      Heimdal, Ketil; Sanchez-Guixé, Monica; Aukrust, Ingvild; Bollerslev, Jens; Bruland, Ove; Jablonski, Greg Eigner; Erichsen, Anne Kjersti; Gude, Einar; Koht, Jeanette A.; Erdal, Sigrid; Fiskerstrand, Torunn; Haukanes, Bjørn Ivar; Boman, Helge; Bjørkhaug, Lise; Tallaksen, Chantal M. E.; Knappskog, Per; Johansson, Stefan (Peer reviewed; Journal article, 2014-09-26)
      Background: A subset of hereditary cerebellar ataxias is inherited as autosomal recessive traits (ARCAs). Classification of recessive ataxias due to phenotypic differences in the cerebellum and cerebellar structures is ...