Blar i Bergen Open Research Archive på forfatter "Tran, Gia Tuong Thi"
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Mitochondrial DNA depletion in sporadic inclusion body myositis
Bhatt, Padmanabh S.; Tzoulis, Charalampos; Balafkan, Novin; Miletic, Hrvoje; Tran, Gia Tuong Thi; Sanaker, Petter Schandl; Bindoff, Laurence (Peer reviewed; Journal article, 2019)Sporadic inclusion body myositis (sIBM) is a late onset disorder of unkown aetiology. Mitochondrial changes such as cytochrome oxidase deficient fibres are a well recognised feature and mitochondrial DNA (mtDNA) deletions ... -
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 (Peer reviewed; Journal article, 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 ... -
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 ...