Charalampos (Haris) Tzoulis
Stilling
Professor, Neurology and Neurodegeneration
Tilhørighet
Forskning
Charalampos Tzoulis is a Professor of Neurology and Neurodegeneration at the University of Bergen and Haukeland University Hospital, Bergen Norway. As a clinical neurologist, Prof. Tzoulis is an expert on movement disorders and neurodegeneration, including dementia and parkisonism. His research focuses on exploring the role of mitochondrial dysfunction in Parkinson's disease (PD) with the aim to improve patient diagnosis and develop neuroprotective therapies. He is the Principal Investigator of the research group DECODE-PD at the University of Bergen and co-Director of the Neuro-SysMed Center of Excellence for Clinical Research in Neurological diseases, where he leads the research on PD and other neurodegenerative disorders. Since 2022, he is also the Director of the K.G. Jebsen Center for Translational Research in Parkinson's Disease at UiB.
Formidling
Neurodegenerative diseases remain an unsolved mystery: https://www.uib.no/en/med/145897/neurodegenerative-diseases-remain-unsolved-mystery
Vil ha hjernebank til Bergen – NRK Vestland
Mystisk hjernesykdom forundrer leger i Canada – NRK Urix – Utenriksnyheter og -dokumentarer
Han vil finne kur for Parkinson (bt.no)
Åpnet Neuro-SysMed i Bergen - Forskning - Dagens Medisin
– Vi har et problem, tenkte legen da Alice ventet barn (bt.no)
Diabetes drug cuts Parkinson's risk by 28 percent, study finds (medicalnewstoday.com)
Åpner nytt forskningssenter i Bergen: Slik skal de løse ALS-gåten – VG
Parkinson's: How a 'bad' enzyme might protect the brain (medicalnewstoday.com)
Frykter 400 000 med demens i Norge (forskning.no)
Parkinson's disease: Could the answer lie in mitochondria of dopamine cells? (medicalnewstoday.com)
Ny norsk forskning: Diabetesmedisin kan begrense Parkinsons-risiko – VG
Ny norsk forskning kan gi Parkinson-svar – VG
Claes (70) donerer hjernen til forskning (bt.no)
Forskere prøver alt fra musikk til maskinlæring for å behandle Alzheimers (forskning.no)
Undervisning
2018 Head of compulsory national course in neurogenetics for training neurologists
2010 – current Advanced training of neurologists in neurogenetics and movement disorders, at national and international (Europe & USA) courses and workshops.
2010 – current Advanced training of movement disorders specialists in botulinum toxin injection
2010 – current Teaching & examining residents for board specialization in Neurology
2007 – current Supervision of pre-graduate thesis projects, University of Bergen, Norway
2006 – current Teaching medical students in clinical neurology, University of Bergen, Norway.
Publikasjoner
2024
- Kristoffersen, Anne Louise; Fortin, Marc-Antoine; Lysheim, Eivind et al. (2024). Comparing Brain Structure Volumes in Parkinson’s Disease Patients and Healthy Controls from Automatic Segmentations at 7T MRI. (ekstern lenke)
- Stige, Kjersti Eline; Kverneng, Simon Ulvenes; Sharma, Soumya et al. (2024). The STRAT-PARK cohort: A personalized initiative to stratify Parkinson's disease. (ekstern lenke)
- Sanchez Nido, Gonzalo; Castelli, Martina Galatea; Mostafavi, Sepideh et al. (2024). Single-nucleus transcriptomics reveals disease- and pathology-specific signatures in α-synucleinopathies . (ekstern lenke)
- Dick, Fiona; Johanson, Gard Aasmund Skulstad; Tysnes, Ole-Bjørn et al. (2024). Brain Proteome Profiling Reveals Common and Divergent Signatures in Parkinson’s Disease, Multiple System Atrophy, and Progressive Supranuclear Palsy. (ekstern lenke)
- Chen, Anbin; Yangzom, Tsering; Hong, Yu et al. (2024). Hallmark Molecular and Pathological Features of POLG Disease are Recapitulated in Cerebral Organoids. (ekstern lenke)
- Flønes, Irene; Toker, Lilah; Sandnes, Dagny Ann et al. (2024). Mitochondrial complex I deficiency stratifies idiopathic Parkinson’s disease. (ekstern lenke)
- Hong, Yu; Zhang, Zhuoyuan; Yangzom, Tsering et al. (2024). The NAD+ Precursor Nicotinamide Riboside Rescues Mitochondrial Defects and Neuronal Loss in iPSC derived Cortical Organoid of Alpers' Disease. (ekstern lenke)
- Liang, Xiao; Chen, Anbin; Kianian, Atefeh et al. (2024). Activation of Neurotoxic Astrocytes Due to Mitochondrial Dysfunction Triggered by POLG Mutation. (ekstern lenke)
2023
- Berven, Haakon; Kverneng, Simon Ulvenes; Sheard, Erika et al. (2023). NR-SAFE: a randomized, double-blind safety trial of high dose nicotinamide riboside in Parkinson’s disease. (ekstern lenke)
- Alstadhaug, Karl Bjørnar; Tzoulis, Charalampos; Simonsen, Axel Meyer (2023). Beverages, caffeine, and Parkinson's disease. (ekstern lenke)
- Neufeld, Lynnette M.; Ho, Emily; Obeid, Rima et al. (2023). Advancing nutrition science to meet evolving global health needs. (ekstern lenke)
- Toker, Lilah; Sanchez Nido, Gonzalo; Tzoulis, Charalampos (2023). Not every estimate counts – evaluation of cell composition estimation approaches in brain bulk tissue data. (ekstern lenke)
- Gaare, Johannes Jernqvist; Brügger, Kim; Sanchez Nido, Gonzalo et al. (2023). DNA Methylation Age Acceleration Is Not Associated with Age of Onset in Parkinson's Disease. (ekstern lenke)
- Berge, Line Iden; Allore, Heather; Angeles, Renira Corinne et al. (2023). The effectiveness of a multicomponent intervention on caregiver burden and informal care time in home-dwelling people with dementia and their caregivers. Results from the stepped wedge randomized controlled LIVE@Home.Path trial. (ekstern lenke)
- Gaare, Johannes Jernqvist; Dölle, Christian; Brakedal, Brage et al. (2023). Nicotinamide riboside supplementation is not associated with altered methylation homeostasis in Parkinson's disease. (ekstern lenke)
- Dick, Fiona; Tysnes, Ole-Bjørn; Alves, Guido Werner et al. (2023). Altered transcriptome-proteome coupling indicates aberrant proteostasis in Parkinson's disease. (ekstern lenke)
2022
- Szwedo, Aleksandra Anna; Dalen, Ingvild; Pedersen, Kenn Freddy et al. (2022). GBA and APOE Impact Cognitive Decline in Parkinson's Disease: A 10-Year Population-Based Study. (ekstern lenke)
- Torrado Vidal, Juan Carlos; Husebø, Bettina Elisabeth Franziska; Allore, Heather G. et al. (2022). Digital phenotyping by wearable-driven artificial intelligence in older adults and people with Parkinson's disease: Protocol of the mixed method, cyclic ActiveAgeing study. (ekstern lenke)
- Guitton, Romain Guillaume Bernard; Sanchez Nido, Gonzalo; Tzoulis, Charalampos (2022). No evidence of extensive non-CpG methylation in mtDNA. (ekstern lenke)
- Fernández-Vizarra, Erika; López-Calcerrada, Sandra; Sierra-Magro, Ana et al. (2022). Two independent respiratory chains adapt OXPHOS performance to glycolytic switch. (ekstern lenke)
- Brakedal, Brage; Dölle, Christian; Riemer, Frank et al. (2022). The NADPARK study: A randomized phase I trial of nicotinamide riboside supplementation in Parkinson's disease. (ekstern lenke)
- Flønes, Irene Hana; Nyland, Harald; Sandnes, Dagny Ann et al. (2022). Early Forms of α-Synuclein Pathology Are Associated with Neuronal Complex I Deficiency in the Substantia Nigra of Individuals with Parkinson’s Disease. (ekstern lenke)
- Flønes, Irene Hana; Tzoulis, Charalampos (2022). Mitochondrial respiratory chain dysfunction—A hallmark pathology of idiopathic Parkinson’s disease?. (ekstern lenke)
- Guitton, Romain Guillaume Bernard; Dölle, Christian; Alves, Guido Werner et al. (2022). Ultra-deep whole genome bisulfite sequencing reveals a single methylation hotspot in human brain mitochondrial DNA. (ekstern lenke)
- Brakedal, Brage; Toker, Lilah; Haugarvoll, Kristoffer et al. (2022). A nationwide study of the incidence, prevalence and mortality of Parkinson’s disease in the Norwegian population. (ekstern lenke)
2021
- Toker, Lilah; Tran, Gia T.; Sundaresan, Janani et al. (2021). Genome-wide histone acetylation analysis reveals altered transcriptional regulation in the Parkinson’s disease brain. (ekstern lenke)
- Pakdaman, Yasaman; Denker, Elsa; Austad, Eirik et al. (2021). Chip protein U-box domain truncation affects Purkinje neuron morphology and leads to behavioral changes in zebrafish. (ekstern lenke)
- Kent, Ruth; Robertson, Adrian; Quiñones Aguilar, Sandra et al. (2021). Real-world dosing of onabotulinumtoxina and incobotulinumtoxina for cervical dystonia and blepharospasm: Results from trudose and trudose ii. (ekstern lenke)
- Chung, Janete; Ushakova, Anastasia; Doitsidou, Maria et al. (2021). The impact of common genetic variants in cognitive decline in the first seven years of Parkinson's disease: A longitudinal observational study. (ekstern lenke)
- Mostafavi, Sepideh; Balafkan, Novin; Pettersen, Ina Katrine Nitschke et al. (2021). Distinct Mitochondrial Remodeling During Mesoderm Differentiation in a Human-Based Stem Cell Model. (ekstern lenke)
- SenGupta, Tanima; Palikaras, Konstantinos; Esbensen, Qin Ying et al. (2021). Base excision repair causes age-dependent accumulation of single-stranded DNA breaks that contribute to Parkinson disease pathology. (ekstern lenke)
- Brakedal, Brage; Tzoulis, Charalampos; Tysnes, Ole-Bjørn et al. (2021). NSAID use is not associated with Parkinson's disease incidence: A Norwegian Prescription Database study. (ekstern lenke)
- Liang, Xiao; Kianian, Atefeh; Chen, Anbin et al. (2021). Stem cell derived astrocytes with POLG mutations and mitochondrial dysfunction including abnormal NAD+ metabolism is toxic for neurons. (ekstern lenke)
2020
- Gilmour, Brian Christopher; Gudmundsrud, Ruben; Frank, Johannes et al. (2020). Targeting NAD+ in translational research to relieve diseases and conditions of metabolic stress and ageing. (ekstern lenke)
- Husebø, Bettina; Allore, Heather; Achterberg, Wilco et al. (2020). LIVE@Home.Path--innovating the clinical pathway for home-dwelling people with dementia and their caregivers: Study protocol for a mixed-method, stepped-wedge, randomized controlled trial. (ekstern lenke)
- Dick, Fiona; Sanchez Nido, Gonzalo; Alves, Guido Werner et al. (2020). Differential transcript usage in the Parkinson’s disease brain. (ekstern lenke)
- Liang, Xiao; Kristiansen, Cecilie Katrin; Mostafavi, Sepideh et al. (2020). Disease-specific phenotypes in iPSC-derived neural stem cells with POLG mutations. (ekstern lenke)
- Flønes, Irene Hana; Ricken, Gerda; Klotz, Sigrid et al. (2020). Mitochondrial respiratory chain deficiency correlates with the severity of neuropathology in sporadic Creutzfeldt-Jakob disease. (ekstern lenke)
- Gaare, Johannes Jernqvist; Sanchez Nido, Gonzalo; Dölle, Christian et al. (2020). Meta-analysis of whole-exome sequencing data from two independent cohorts finds no evidence for rare variant enrichment in Parkinson disease associated loci. (ekstern lenke)
- Sanchez Nido, Gonzalo; Dick, Fiona; Toker, Lilah et al. (2020). Common gene expression signatures in Parkinson’s disease are driven by changes in cell composition. (ekstern lenke)
- Varhaug, Kristin Nielsen; Sanchez Nido, Gonzalo; de Coo, Irenaeus et al. (2020). Using urine to diagnose large-scale mtDNA deletions in adult patients. (ekstern lenke)
2019
- Flønes, Irene Hana; Tzoulis, Charalampos; Dölle, Christian et al. (2019). Mitochondrial mechanisms in neurodegeneration. (ekstern lenke)
- BHATT, PADMANABH SHRIKANT; Tzoulis, Charalampos; Balafkan, Novin et al. (2019). Mitochondrial DNA depletion in sporadic inclusion body myositis. (ekstern lenke)
- Osuagwu, Nelson Uchechukwu; Dölle, Christian; Tzoulis, Charalampos (2019). Poly-ADP-ribose assisted protein localization resolves that DJ-1, but not LRRK2 or α-synuclein, is localized to the mitochondrial matrix. (ekstern lenke)
2018
- Maple-Grødem, Jodi; Chung, Janete; Lunde, Kristin Aaser et al. (2018). Alzheimer disease associated variants in SORL1 accelerate dementia development in Parkinson disease. (ekstern lenke)
- Gaare, Johannes Jernqvist; Sanchez Nido, Gonzalo; Sztromwasser, Pawel Szymon et al. (2018). No evidence for rare TRAP1 mutations influencing the risk of idiopathic Parkinson's disease. (ekstern lenke)
- Gaare, Johannes Jernqvist; Sanchez Nido, Gonzalo; Sztromwasser, Pawel Szymon et al. (2018). Rare genetic variation in mitochondrial pathways influences the risk for parkinson's disease. (ekstern lenke)
- Hikmat, Omar; Tzoulis, Charalampos; Chong, Wui K. et al. (2018). Correction to: The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations (Genetics in Medicine, (2017), 19, 11, (1217-1225), 10.1038/gim.2017.35). (ekstern lenke)
- Lunde, Kristin Aaser; Chung, Janete; Dalen, Ingvild et al. (2018). Association of glucocerebrosidase polymorphisms and mutations with dementia in incident Parkinson's disease. (ekstern lenke)
- Erga, Aleksander Hagen; Dalen, Ingvild; Ushakova, Anastasia et al. (2018). Dopaminergic and opioid pathways associated with impulse control disorders in Parkinson's disease. (ekstern lenke)
- Dölle, Christian; Bindoff, Laurence; Tzoulis, Charalampos (2018). 3,3'-Diaminobenzidine staining interferes with PCR-based DNA analysis. (ekstern lenke)
- Sofou, Kalliopi; De Coo, Irenaeus F.M.; Østergaard, Elsebet et al. (2018). Phenotype-genotype correlations in leigh syndrome: New insights from a multicentre study of 96 patients. (ekstern lenke)
- Sanchez Nido, Gonzalo; Dölle, Christian; Flønes, Irene Hana et al. (2018). Ultradeep mapping of neuronal mitochondrial deletions in Parkinson's disease. (ekstern lenke)
- Flønes, Irene Hana; Tzoulis, Charalampos (2018). Movement disorders in mitochondrial disease: a clinicopathological correlation. (ekstern lenke)
2017
- Pakdaman, Yasaman; Sanchez Guixe, Monica; Kleppe, Rune et al. (2017). In vitro characterization of six STUB1 variants in spinocerebellar ataxia 16 reveals altered structural properties for the encoded CHIP proteins. (ekstern lenke)
- Flønes, Irene Hana; Fernandez-Vizarra, Erika; Lykouri, Maria et al. (2017). Neuronal complex I deficiency occurs throughout the Parkinson's disease brain, but is not associated with neurodegeneration or mitochondrial DNA damage. (ekstern lenke)
- Brakedal, Brage; Flønes, Irene Hana; Reiter, Simone B. C. Frizell et al. (2017). Glitazone use associated with reduced risk of Parkinson's disease. (ekstern lenke)
- Brakedal, Brage; Haugarvoll, Kristoffer; Tzoulis, Charalampos (2017). Simvastatin is associated with decreased risk of Parkinson disease. (ekstern lenke)
- Talasila, Krishna Mukharji; Røsland, Gro Vatne; Hagland, Hanne Røland et al. (2017). The angiogenic switch leads to a metabolic shift in human glioblastoma. (ekstern lenke)
- Osuagwu, Nelson Uchechukwu; Tzoulis, Charalampos; Dölle, Christian (2017). High-resolution subcellular localization of pathogenic proteins in Parkinson's disease. (ekstern lenke)
- Tzoulis, Charalampos; Henriksen, Eilen Holm; Miletic, Hrvoje et al. (2017). No evidence of ischemia in stroke-like lesions of mitochondrial POLG encephalopathy. (ekstern lenke)
- Gaare, Johannes Jernqvist; Skeie, Geir Olve; Tzoulis, Charalampos et al. (2017). Familial aggregation of Parkinson's disease may affect progression of motor symptoms and dementia. (ekstern lenke)
- Varhaug, Kristin; Vedeler, Christian A.; Tzoulis, Charalampos et al. (2017). Multippel sklerose - en mitokondriemediert sykdom?. (ekstern lenke)
- Tzoulis, Charalampos; Sztromwasser, Pawel Szymon; Johansson, Stefan et al. (2017). PNKP Mutations Identified by Whole-Exome Sequencing in a Norwegian Patient with Sporadic Ataxia and Edema. (ekstern lenke)
2016
- Tzoulis, Charalampos; Schwarzlmüller, Thomas; Biermann, Martin et al. (2016). Mitochondrial DNA homeostasis is essential for nigrostriatal integrity. (ekstern lenke)
- Varhaug, Kristin; Vedeler, Christian A.; Myhr, Kjell-Morten et al. (2016). Increased levels of cell-free mitochondrial DNA in the cerebrospinal fluid of patients with multiple sclerosis. (ekstern lenke)
- Dölle, Christian; Flønes, Irene Hana; Sanchez Nido, Gonzalo et al. (2016). Defective mitochondrial DNA homeostasis in the substantia nigra in Parkinson disease. (ekstern lenke)
- Abdullah, Rashed; Patil, Ketan S.; Rosen, Benjamin et al. (2016). Subcellular Parkinson’s disease-specific alpha-synuclein species show altered behavior in neurodegeneration. (ekstern lenke)
- Flønes, Irene Hana; Sztromwasser, Pawel Szymon; Haugarvoll, Kristoffer et al. (2016). Novel SLC19A3 promoter deletion and allelic silencing in biotin-thiamine-responsive basal ganglia encephalopathy. (ekstern lenke)
- Hikmat, Omar; Tzoulis, Charalampos; Knappskog, Per et al. (2016). ADCK3 mutations with epilepsy, stroke-like episodes and ataxia: a POLG mimic?. (ekstern lenke)
- Valadas, Anabela; Contarino, Maria Fiorella; Albanese, Alberto et al. (2016). Management of dystonia in Europe: A survey of the European network for the study of the dystonia syndromes. (ekstern lenke)
- Haugarvoll, Kristoffer; Bindoff, Laurence; Tzoulis, Charalampos (2016). Nigrostriatal denervation sine parkinsonism. (ekstern lenke)
2015
- Tzoulis, Charalampos; Schwarzlmüller, Thomas; Gjerde, Ivar Otto et al. (2015). Excellent response of intramedullary Erdheim-Chester disease to vemurafenib: a case report. (ekstern lenke)
- Flønes, Irene Hana; Haugarvoll, Kristoffer; Sundal, Christina Heidemann et al. (2015). En kvinne i 70-årene med langvarige gangvansker. (ekstern lenke)
- Bjørk, Marte Helene; Gjerde, Ivar Otto; Tzoulis, Charalampos et al. (2015). En mann i 50-årene med høyt ferritinnivå og økende kognitiv svikt. (ekstern lenke)
- Albanese, Alberto; Abbruzzese, Giovanni; Dressler, Dirk et al. (2015). Practical guidance for CD management involving treatment of botulinum toxin: a consensus statement. (ekstern lenke)
- Tzoulis, Charalompos; Zayats, Tetyana; Knappskog, Per et al. (2015). HTRA2 p.G399S in Parkinson disease, essential tremor, and tremulous cervical dystonia. (ekstern lenke)
2014
- Wedding, Iselin Marie; Koht, Jeanette ; Tran, Gia Tuong Thi et al. (2014). Spastic paraplegia type 7 is associated with multiple mitochondrial DNA deletions. (ekstern lenke)
- Sofou, Kalliopi; De Coo, Irenaeus F.M.; Isohanni, Pirjo et al. (2014). A multicenter study on Leigh syndrome: Disease course and predictors of survival. (ekstern lenke)
- Haugarvoll, Kristoffer; Tzoulis, Charalampos; Tran, Gia Tuong Thi et al. (2014). Myoclonus-dystonia and epilepsy in a family with a novel epsilon-sarcoglycan mutation. (ekstern lenke)
- Tzoulis, Charalampos; Tran, Gia Tuong Thi; Coxhead, Jonathan et al. (2014). Molecular pathogenesis of polymerase gamma-related neurodegeneration. (ekstern lenke)
2013
- Haugarvoll, Kristoffer; Johansson, Stefan; Tzoulis, Charalampos et al. (2013). MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing. (ekstern lenke)
- Tzoulis, Charalampos; Vedeler, Christian A.; Haugen, Mette et al. (2013). Progressive striatal necrosis associated with anti-NMDA receptor antibodies. (ekstern lenke)
- Tzoulis, Charalampos; Johansson, Stefan; Haukanes, Bjørn Ivar et al. (2013). Novel SACS mutations identified by whole exome sequencing in a Norwegian family with autosomal recessive spastic ataxia of Charlevoix-Saguenay. (ekstern lenke)
- Tzoulis, Charalampos; Tran, Gia Tuong Thi; Schwarzlmüller, Thomas et al. (2013). Severe nigrostriatal degeneration without clinical parkinsonism in patients with polymerase gamma mutations. (ekstern lenke)
2012
- Tzoulis, Charalampos; Tran, Gia Tuong Thi; Gjerde, Ivar Otto et al. (2012). Leukoencephalopathy with brainstem and spinal cord involvement caused by a novel mutation in the DARS2 gene. (ekstern lenke)
- Tzoulis, Charalampos; Tran, Gia Tuong Thi; Gjerde, Ivar Otto et al. (2012). Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate (LBSL) caused by a novel mutation in DARS2. (ekstern lenke)
- Balafkan, Novin; Tzoulis, Charalampos; Muller, Bernd et al. (2012). Number of CAG repeats in POLG1 and its association with Parkinson disease in the Norwegian population. (ekstern lenke)
- Tzoulis, Charalampos; Bindoff, Laurence (2012). Acute mitochondrial encephalopathy reflects neuronal energy failure irrespective of which genome the genetic defect affects. (ekstern lenke)
- Tzoulis, Charalampos; Tran, Gia Tuong Thi; Miletic, Hrvoje et al. (2012). Polymerase gamma (POLG) associated encephalopathy is characterised by neuronal mtDNA depletion and respiratory complex-I deficiency. (ekstern lenke)
- Tzoulis, Charalampos; Gjerde, Ivar Otto; Søfteland, Eirik et al. (2012). Erdheim-Chester disease presenting with an intramedullary spinal cord lesion. (ekstern lenke)
2010
- Tzoulis, Charalampos (2010). Clinical and molecular studies of disease caused by mutations of the mitochondrial DNA polymerase gamma (POLG). (ekstern lenke)
- Tzoulis, Charalampos; Neckelmann, Gesche F; Mørk, Sverre et al. (2010). Localized cerebral energy failure in mitochondrial polymerase gamma-associated encephalopathy. (ekstern lenke)
- Tzoulis, Charalampos; Neckelmann, Gesche F; Mørk, Sverre et al. (2010). Localized cerebral energy failure in DNA polymerase gamma-associated encephalopathy syndromes. (ekstern lenke)
- Sanaker, Petter Schandl; Toompuu, Marina; Hogan, Vanessa E. et al. (2010). Differences in RNA processing underlie the tissue specific phenotype of ISCU myopathy. (ekstern lenke)
2009
- Tzoulis, Charalampos; Sætran, Hege; Mørk, Sverre et al. (2009). MRI and neuropathology findings in three patients with the syndrome of mitochondrial spinocerebellar ataxia and epilepsy (MSCAE). (ekstern lenke)
- Gramstad, Arne; Bindoff, Laurence; Lillebø, Atle et al. (2009). Neuropsychological performance of patients with polg1 mutation and epilepsy: evidence of more pronounced right than left hemisphere dysfunction?. (ekstern lenke)
- Sanaker, Petter Schandl; Toompuu, M; Chrzanowska-Lightowlers, Z et al. (2009). RNA processing differences explain tissue specificity in exercise intolerance myopathy due to ISCU intronic mutation. (ekstern lenke)
- Tzoulis, Charalampos; Bindoff, Laurence (2009). Serial Diffusion Imaging in a Case of Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes. (ekstern lenke)
- Tzoulis, Charalampos; Papingji, Migena; Fiskestrand, Torunn et al. (2009). Mitochondrial DNA depletion in progressive external ophthalmoplegia caused by POLG1 mutations. (ekstern lenke)
- Gramstad, Arne; Bindoff, Laurence; Lillebø, Atle et al. (2009). Neuropsychological performance in patients with POLG1 mutations and the syndrome of mitochondrial spinocerebellar ataxia and epilepsy. (ekstern lenke)
2008
- Tzoulis, Charalampos; Denora, Paola S.; Santorelli, Filippo M et al. (2008). Hereditary spastic paraplegia caused by the novel mutation 1047insC in the SPG7 gene. (ekstern lenke)
- Engelsen, Bernt; Tzoulis, Charalampos; Karlsen, Bjørn et al. (2008). POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection. (ekstern lenke)
2007
- Tzoulis, Charalampos; Moen, Gunnar; Bindoff, Laurence (2007). Cerebral imaging in mitochondrial spinocerebellar ataxia caused by POLG mutations shows diagnostic specificity and provides insight into disease evolution. (ekstern lenke)
- Tzoulis, Charalampos; Denora, Paola S.; Bindoff, Laurence (2007). Hereditary spastic paraplegia caused by the novel mutation 1047INSC in the SPG7 gene. (ekstern lenke)
- Tzoulis, Charalampos; Bindoff, Laurence (2007). MELAS associated with mutations in the POLG1 gene. (ekstern lenke)
2006
- Engelsen, Bernt; Tzoulis, Charalampos; Zeviani, Massimo et al. (2006). The clinical semiology of epilepsy in patients with mitochondriopathy due to polymerasegamma-(POLG) mutations. (ekstern lenke)
- Tzoulis, Charalampos; Engelsen, Bernt; Telstad, Wenche et al. (2006). The clinical spectrum of disease in 26 patients with G1399A or G2243C mutations in the gene encoding the catalytic subunit of mitochondrial DNA-polymerase gamma. (ekstern lenke)
- Tzoulis, Charalampos; Engelsen, Bernt; Telstad, Wenche et al. (2006). The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases. (ekstern lenke)