BORA - UiB

Bergen Open Research Archive

Department of Clinical Medicine

Bergen Open Research Archive

Department of Clinical Medicine

 

Recent Submissions

  • Wedding, Iselin Marie; Koht, Jeanette; Tran, Gia Tuong Thi; Misceo, Doriana; Selmer, Kaja Kristine; Holmgren, Asbjørn; Frengen, Eirik; Bindoff, Laurence; Tallaksen, Chantal; Tzoulis, Charalampos (Journal article, PLOS, 2014-01-22)
    Spastic paraplegia 7 is an autosomal recessive disorder caused by mutations in the gene encoding paraplegin, a protein located at the inner mitochondrial membrane and involved in the processing of other mitochondrial ...
  • Mauer, Michael; Glynn, Emily; Svarstad, Einar; Tøndel, Camilla; Gubler, Marie-Claire; West, Michael; Sokolovskiy, Alexey; Whitley, Chester; Najafian, Behzad (Journal article, PLOS, 2014-11-11)
    Background: Fabry disease. an X-linked deficiency of α-galactosidase A coded by the GLA gene, leads to intracellular globotriaosylceramide (GL-3) accumulation. Although less common than in males, chronic kidney disease, ...
  • Yarham, John W.; Lamichhane, Tek N.; Pyle, Angela; Mattijssen, Sandy; Baruffini, Enrico; Bruni, Francesco; Donnini, Claudia; Vassilev, Alex; He, Langping; Blakely, Emma L.; Griffin, Helen; Santibanez-Koref, Mauro; Bindoff, Laurence; Ferrero, Iliana; Chinnery, Patrick F.; McFarland, Robert; Maraia, Richard J.; Taylor, Robert W. (Journal article, PLOS, 2014-06-05)
    Identifying the genetic basis for mitochondrial diseases is technically challenging given the size of the mitochondrial proteome and the heterogeneity of disease presentations. Using next-generation exome sequencing, we ...
  • Torkildsen, Øivind Fredvik; Aarseth, Jan Harald; Benjaminsen, Espen; Celius, Elisabeth Gulowsen; Holmøy, Trygve; Kampman, Margitta Theodora; Løken-Amsrud, Kristin Ingeleiv; Midgard, Rune; Myhr, Kjell-Morten; Riise, Trond; Torkildsen, Nina Agnethe Grytten (Journal article, Wiley, 2014-02)
    A month of birth effect on multiple sclerosis (MS) risk has been reported from different countries. Recent critics have suggested that this finding is caused by confounding and that adequately adjusting for year and place ...
  • Lunde, Hanne Marie; Telstad, Wenche; Torkildsen, Nina Agnethe Grytten; Kyte, Lars; Aarseth, Jan; Myhr, Kjell-Morten; Bø, Lars (Journal article, Public Library of Science, 2014-07-23)