Blar i Department of Clinical Medicine på forfatter "Haukanes, Bjørn Ivar"

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    • CDR2 antigen and Yo antibodies 

      Totland, Cecilie; Aarskog, Nina K.; Eichler, Tilo W.; Haugen, Mette; Nøstbakken, Jane K.; Monstad, Sissel E.; Salvesen, Helga Birgitte; Mørk, Sverre; Haukanes, Bjørn Ivar; Vedeler, Christian A. (Peer reviewed; Journal article, 2011)
      Paraneoplastic cerebellar degeneration (PCD) is often associated with Yo antibodies that are directed against human cerebellar degeneration-related protein 2 (CDR2). Such antibodies may also be found in ovarian cancer ...

    • Current clinical criteria for Lynch syndrome are not sensitive enough to identify MSH6 mutation carriers 

      Sjursen, Wenche; Haukanes, Bjørn Ivar; Grindedal, Eli Marie; Aarset, Harald; Stormorken, Astrid Tenden; Engebretsen, Lars Fredrik; Jonsrud, Christoffer; Bjørnevoll, Inga; Andresen, Per Arne; Ariansen, Sarah; Lavik, Liss Anne S.; Gilde, Bodil; Bowitz-Lothe, Inger Marie; Mæhle, Lovise; Møller, Pål (Peer reviewed; Journal article, 2010-09)
      Background: Reported prevalence, penetrance and expression of deleterious mutations in the mismatch repair (MMR) genes, MLH1, MSH2, MSH6 and PMS2, may reflect differences in the clinical criteria used to select families ...

    • GBA2 mutations cause a Marinesco-Sjogren-like syndrome: Genetic and biochemical studies 

      Haugarvoll, Kristoffer; Johansson, Stefan; Rodriguez, Carlos E.; Boman, Helge; Haukanes, Bjørn Ivar; Bruland, Ove; Roque, Francisco; Jonassen, Inge; Blomqvist, Maria; Telstad, Wenche; Månsson, Jan-Eric; Knappskog, Per; Bindoff, Laurence (Peer reviewed; Journal article, 2017-01-04)
      Background: With the advent new sequencing technologies, we now have the tools to understand the phenotypic diversity and the common occurrence of phenocopies. We used these techniques to investigate two Norwegian families ...

    • MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing 

      Haugarvoll, Kristoffer; Johansson, Stefan; Tzoulis, Charalampos; Haukanes, Bjørn Ivar; Bredrup, Cecilie; Neckelmann, Gesche; Boman, Helge; Knappskog, Per; Bindoff, Laurence (Peer reviewed; Journal article, 2013-01-03)
      Background: Correct diagnosis is pivotal to understand and treat neurological disease. Herein, we report the diagnostic work-up utilizing exome sequencing and the characterization of clinical features and brain MRI in two ...

    • Paraneoplastic syndrome-associated neuronal antibodies in adult ADHD 

      Haukanes, Bjørn Ivar; Hegvik, Tor-Arne; Eichler, Tilo Wolf; Haavik, Jan; Vedeler, Christian A. (Peer reviewed; Journal article, 2015-09-01)
      A high seroprevalence of Yo antibodies targeting cerebellar Purkinje cells was recently reported in children with attention deficit/hyperactivity disorder (ADHD). We investigated the presence of 8 paraneoplastic neurological ...