C
Charalampos Tzoulis
Researcher at Haukeland University Hospital
Publications - 101
Citations - 2834
Charalampos Tzoulis is an academic researcher from Haukeland University Hospital. The author has contributed to research in topics: Mitochondrial DNA & Population. The author has an hindex of 26, co-authored 86 publications receiving 2136 citations. Previous affiliations of Charalampos Tzoulis include University of Bergen.
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Journal ArticleDOI
The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases
Charalampos Tzoulis,Bernt A. Engelsen,Wenche Telstad,Jan O. Aasly,Massimo Zeviani,Synnøve Winterthun,Gianfrancesco Ferrari,Jan Harald Aarseth,Laurence A. Bindoff +8 more
TL;DR: This study demonstrates the clinical spectrum of a disorder that combines features of Alpers' syndrome and a later onset mitochondrial spinocerebellar ataxia with epilepsy and headache and patients with this disorder are at high risk of death from status epilepticus and from liver failure, if exposed to sodium valproate.
Journal ArticleDOI
Defective mitochondrial DNA homeostasis in the substantia nigra in Parkinson disease
Christian Dölle,Irene H. Flønes,Irene H. Flønes,Gonzalo S. Nido,Gonzalo S. Nido,Hrvoje Miletic,Nelson Uchechukwu Osuagwu,Nelson Uchechukwu Osuagwu,Stine Kristoffersen,Peer K. Lilleng,Jan Petter Larsen,Ole-Bjørn Tysnes,Ole-Bjørn Tysnes,Kristoffer Haugarvoll,Kristoffer Haugarvoll,Laurence A. Bindoff,Laurence A. Bindoff,Charalampos Tzoulis,Charalampos Tzoulis +18 more
TL;DR: It is shown that in dopaminergic substantia nigra neurons of healthy individuals, mtDNA copy number increases with age, maintaining the pool of wild-type mtDNA population in spite of accumulating deletions, and dysregulation of mtDNA homeostasis is a key process in the pathogenesis of neuronal loss in Parkinson disease.
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A multicenter study on Leigh syndrome: Disease course and predictors of survival
Kalliopi Sofou,Irenaeus F.M. de Coo,Pirjo Isohanni,Pirjo Isohanni,Elsebet Ostergaard,Karin Naess,Linda De Meirleir,Charalampos Tzoulis,Charalampos Tzoulis,Johanna Uusimaa,Johanna Uusimaa,Isabell B De Angst,Tuula Lönnqvist,Helena Pihko,Katariina Mankinen,Laurence A. Bindoff,Laurence A. Bindoff,Mar Tulinius,Niklas Darin +18 more
TL;DR: The presence of pathological signs at birth and a history of epileptic seizures were associated with higher occurrence of acute exacerbations and/or relapses, and increased lactate in the cerebrospinal fluid was significantly correlated to a more severe disease course.
Journal ArticleDOI
MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing
Kristoffer Haugarvoll,Stefan Johansson,Stefan Johansson,Charalampos Tzoulis,Charalampos Tzoulis,Bjørn Ivar Haukanes,Cecilie Bredrup,Gesche Neckelmann,Helge Boman,Helge Boman,Per M. Knappskog,Per M. Knappskog,Laurence A. Bindoff,Laurence A. Bindoff +13 more
TL;DR: It is shown that appropriately applied, homozygosity mapping and exome sequencing can be decisive for establishing diagnoses such as late onset α-methylacyl-coA racemase deficiency, an autosomal recessive peroxisomal disorder with accumulation of pristanic acid.
Journal ArticleDOI
POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection
Bernt A. Engelsen,Charalampos Tzoulis,Bjørn Karlsen,Atle Lillebø,Liv Marie Lægreid,Jan Aasly,Massimo Zeviani,Laurence A. Bindoff +7 more
TL;DR: The epileptic semiology of 19 patients (from 15 families) with mitochondrial disease due to mutations in the POLG1 gene is presented, with most patients developed simple partial seizure phenomena with motor symptoms suggesting frontal lobe seizure initiation or spread.