Now showing items 21-26 of 26

    • PNKP Mutations Identified by Whole-Exome Sequencing in a Norwegian Patient with Sporadic Ataxia and Edema 

      Tzoulis, Charalampos; Sztromwasser, Pawel Szymon; Johansson, Stefan; Gjerde, Ivar Otto; Knappskog, Per; Bindoff, Laurence (Journal article, 2017-02)
      We identified PNKP mutations in a Norwegian woman with AOA. This patient had the typical findings with cognitive dysfunction, peripheral neuropathy, cerebellar dysarthria, horizontal nystagmus, oculomotor apraxia, and ...
    • Poly-ADP-ribose assisted protein localization resolves that DJ-1, but not LRRK2 or α-synuclein, is localized to the mitochondrial matrix 

      Osuagwu, Nelson Uchechukwu; Dölle, Christian; Tzoulis, Charalampos (Peer reviewed; Journal article, 2019)
      Several proteins linked to familial Parkinson disease have been associated with mitochondrial (dys-)function and have been described to reside within mitochondria. The putative mitochondrial and sub-mitochondrial localization ...
    • Progressive striatal necrosis associated with anti-NMDA receptor antibodies 

      Tzoulis, Charalampos; Vedeler, Christian A.; Haugen, Mette; Storstein, Anette; Tran, Gia Tuong Thi; Gjerde, Ivar Otto; Biermann, Martin; Schwarzlmüller, Thomas; Bindoff, Laurence (Peer reviewed; Journal article, 2013-05-31)
      Background: We report a case of childhood onset, generalized dystonia due to slowly progressive bilateral striatal necrosis associated with anti-N-methyl-D-aspartate receptor (NMDAR) antibodies. This clinical phenotype has ...
    • Spastic paraplegia type 7 is associated with multiple mitochondrial DNA deletions 

      Wedding, Iselin Marie; Koht, Jeanette; Tran, Gia Tuong Thi; Misceo, Doriana; Selmer, Kaja Kristine; Holmgren, Asbjørn; Frengen, Eirik; Bindoff, Laurence; Tallaksen, Chantal; Tzoulis, Charalampos (Peer reviewed; Journal article, 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 ...
    • Targeting NAD+ in translational research to relieve diseases and conditions of metabolic stress and ageing 

      Gilmour, Brian Christopher; Gudmundsrud, Ruben; Frank, Johannes; Hov, Amund; Hindkjær Lautrup, Sofie; Aman, Yahyah; Røsjø, Helge; Brenner, Charles; Ziegler, Mathias; Tysnes, Ole-Bjørn; Tzoulis, Charalampos; Omland, Torbjørn; Søraas, Arne Vasli; Holmøy, Trygve; Bergersen, Linda Hildegard; Storm-Mathisen, Jon; Nilsen, Hilde; Fang, Evandro Fei (Journal article; Peer reviewed, 2020)
      Nicotinamide adenine dinucleotide (NAD+) plays a fundamental role in life and health through the regulation of energy biogenesis, redox homeostasis, cell metabolism, and the arbitration of cell survival via linkages to ...
    • 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 ...