Now showing items 1-3 of 3

    • Molecular pathogenesis of polymerase gamma-related neurodegeneration 

      Tzoulis, Charalampos; Tran, Gia Tuong Thi; Coxhead, Jonathan; Bertelsen, Bjørn; Lilleng, Peer Kåre; Balafkan, Novin; Payne, Brendan; Miletic, Hrvoje; Chinnery, Patrick F.; Bindoff, Laurence (Wiley, 2014-07)
      Objective: Polymerase gamma (POLG) mutations are a common cause of mitochondrial disease and have also been linked to neurodegeneration and aging. We studied the molecular mechanisms underlying POLG-related neurodegeneration ...
      Journal article
    • 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 (BioMed Central, 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 ...
      Journal article
    • 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 (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 ...
      Journal article