• Increased Sphingomyelin and Free Sialic Acid in Cerebrospinal Fluid of Kearns-Sayre Syndrome: New Findings Using Untargeted Metabolomics 

      Salvador, Cathrin Lytomt; Oppebøen, Mari; Østeby Vassli, Anja; Pfeiffer, Helle Cecilie; Varhaug, Kristin Nielsen; Elgstøen, Katja B. Prestø; Yazdani, Mazyar (Journal article; Peer reviewed, 2023)
      Background: Kearns-Sayre syndrome (KSS) is caused by duplications and/or deletions of mitochondrial DNA (mtDNA) and is typically diagnosed based on a classic triad of symptoms with chronic progressive external ophthalmoplegia ...
    • Mitochondrial biomarkers and biomarkers of mitochondrial disease 

      Varhaug, Kristin Nielsen (Doctoral thesis, 2021-11-26)
      Background: Biomarkers are objective and reproducible tools that are essential for making the diagnosis and following disease development in clinical practice. Mitochondria are multifunctional organelles and the major site ...
    • Mitokondriesykdom forårsaket av m.3243A>G-mutasjonen 

      Varhaug, Kristin Nielsen; Hikmat, Omar; Bindoff, Laurence Albert (Journal article; Peer reviewed, 2022)
      Mitokondriesykdom er blant de vanligste metabolske sykdommene og er relevant for mange medisinske spesialiteter. Denne kliniske oversiktsartikkelen omtaler en av de vanligste mutasjonene bak mitokondriesykdom: m.3243A>G. ...
    • The NADPARK study: A randomized phase I trial of nicotinamide riboside supplementation in Parkinson’s disease 

      Brakedal, Brage; Dölle, Christian; Riemer, Frank; Ma, Yilong; Nido, Gonzalo Sanchez; Skeie, Geir Olve; Craven, Alexander R.; Schwarzlmüller, Thomas; Brekke, Njål; Diab, Joseph; Sverkeli, Lars Jansen; Skjeie, Vivian; Varhaug, Kristin Nielsen; Tysnes, Ole-Bjørn; Peng, Shichun; Haugarvoll, Kristoffer; Ziegler, Mathias; Grüner, Renate; Eidelberg, David; Tzoulis, Charalampos (Journal article; Peer reviewed, 2022)
      We conducted a double-blinded phase I clinical trial to establish whether nicotinamide adenine dinucleotide (NAD) replenishment therapy, via oral intake of nicotinamide riboside (NR), is safe, augments cerebral NAD levels, ...
    • Natural Variation of Vitamin D and Neurofilament Light Chain in Relapsing-Remitting Multiple Sclerosis 

      Røsjø, Egil Rørvik; Lindstrøm, Jonas Christoffer; Holmøy, Trygve; Myhr, Kjell-Morten; Varhaug, Kristin Nielsen; Torkildsen, Øivind Fredvik (Journal article; Peer reviewed, 2020-04-30)
      Background: High serum levels of 25-hydroxyvitamin D (25(OH)D) have been found among patients with a favorable disease course in relapsing-remitting MS (RRMS), indicating that this may limit clinical deterioration. Clinical ...
    • Neurofilament light chain as a biomarker in multiple sclerosis 

      Varhaug, Kristin Nielsen; Torkildsen, Øivind; Myhr, Kjell-Morten; Vedeler, Christian A. (Peer reviewed; Journal article, 2019-04-05)
      Due to the unpredictable course and heterogenous treatment response in multiple sclerosis (MS), there is a clear need for biomarkers that reflect disease activity in the clinical follow-up of these patients. Neurofilaments ...
    • Neurofilament light chain predicts disease activity in relapsing-remitting MS 

      Varhaug, Kristin Nielsen; Barro, Christian; Bjørnevik, Kjetil Lauvland; Myhr, Kjell-Morten; Torkildsen, Øivind; Wergeland, Stig; Bindoff, Laurence; Kuhle, Jens; Vedeler, Christian A. (Peer reviewed; Journal article, 2018)
      Objective: To investigate whether serum neurofilament light chain (NF-L) and chitinase 3-like 1 (CHI3L1) predict disease activity in relapsing-remitting MS (RRMS). Methods: A cohort of 85 patients with RRMS were followed ...
    • Safety of drug use in patients with a primary mitochondrial disease: An international Delphi-based consensus 

      De Vries, Maaike C.; Brown, David A.; Allen, Mitchell E.; Bindoff, Laurence; Gorman, Gráinne S.; Karaa, Amel; Keshavan, Nandaki; Lamperti, Costanza; McFarland, Robert; Ng, Yi Shiau; O'Callaghan, Mar; Pitceathly, Robert D. S.; Rahman, Shamima; Russel, Frans G. M.; Varhaug, Kristin Nielsen; Schirris, Tom J. J.; Mancuso, Michelangelo (Journal article; Peer reviewed, 2020)
      Clinical guidance is often sought when prescribing drugs for patients with primary mitochondrial disease. Theoretical considerations concerning drug safety in patients with mitochondrial disease may lead to unnecessary ...
    • Serum neurofilament as a predictor of 10-year grey matter atrophy and clinical disability in multiple sclerosis: a longitudinal study 

      Lie, Ingrid Anne; Kacar, Sezgi; Wesnes, Kristin; Brouwer, Iman; Kvistad, Silje S.; Wergeland, Stig; Holmøy, Trygve; Midgard, Rune; Bru, Alla Nikolajevna S; Edland, Astrid; Eikeland, Randi; Gosal, Sonia; Harbo, Hanne-Cathrin Flinstad; Kleveland, Grethe; Sørenes, Yvonne; Øksendal, Nina; Varhaug, Kristin Nielsen; Vedeler, Christian Alexander; Barkhof, Frederik; Teunissen, Charlotte E.; Bø, Lars; Torkildsen, Øivind Fredvik Grytten; Myhr, Kjell-Morten; Vrenken, Hugo (Journal article; Peer reviewed, 2022)
      Background The predictive value of serum neurofilament light chain (sNfL) on long-term prognosis in multiple sclerosis (MS) is still unclear. Objective Investigate the relation between sNfL levels over a 2-year ...
    • Using urine to diagnose large-scale mtDNA deletions in adult patients 

      Varhaug, Kristin Nielsen; Sanchez Nido, Gonzalo; de Coo, Irenaeus; Isohanni, Pirjo; Suomalainen, Anu; Tzoulis, Charalampos; Knappskog, Per; Bindoff, Laurence (Journal article; Peer reviewed, 2020)
      Objective: The aim of this study was to evaluate if urinary sediment cells offered a robust alternative to muscle biopsy for the diagnosis of single mtDNA deletions. Methods: Eleven adult patients with progressive ...