Charalampos Tzoulis is a Professor of Neurology and Neurogenetics 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 Neuromics 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.

Neurodegenerative diseases remain an unsolved mystery: https://www.uib.no/en/med/145897/neurodegenerative-diseases-remain-unsolved-mystery

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Mystisk hjernesykdom forundrer leger i Canada – NRK Urix – Utenriksnyheter og -dokumentarer

Da demensen tok ordene fra Atle, sluttet mange å snakke til ham. – Det gjorde meg så vondt, sier hans kone. (bt.no)

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

Mitochondrial DNA Damage May Be Involved in Parkinson’s Disease… – Parkinson's News Today (parkinsonsnewstoday.com)

Ny norsk forskning kan gi Parkinson-svar – VG

Claes (70) donerer hjernen til forskning (bt.no)

Mitochondria Defects in Brains of Parkinson’s Patients Might Play… – Parkinson's News Today (parkinsonsnewstoday.com)

Forskere prøver alt fra musikk til maskinlæring for å behandle Alzheimers (forskning.no)

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Diabetesmedisin virker mot Parkinsons (forskning.no)

 

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.

For the most up-to-date publications, please see google scholar, pubmed or ORCID records. 

2024

• Flønes, Irene; Toker, Lilah; Sandnes, Dagny Ann et al. (2024). Mitochondrial complex I deficiency stratifies idiopathic Parkinson’s disease. (external link)
• Chen, Anbin; Yangzom, Tsering; Hong, Yu et al. (2024). Hallmark Molecular and Pathological Features of POLG Disease are Recapitulated in Cerebral Organoids. (external link)
• 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. (external link)
• Stige, Kjersti Eline; Kverneng, Simon Ulvenes; Sharma, Soumya et al. (2024). The STRAT-PARK cohort: A personalized initiative to stratify Parkinson's disease. (external link)
• Liang, Xiao; Chen, Anbin; Kianian, Atefeh et al. (2024). Activation of Neurotoxic Astrocytes Due to Mitochondrial Dysfunction Triggered by POLG Mutation. (external link)
• 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. (external link)

2023

• Toker, Lilah; Sanchez Nido, Gonzalo; Tzoulis, Charalampos (2023). Not every estimate counts – evaluation of cell composition estimation approaches in brain bulk tissue data. (external link)
• 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. (external link)
• Dick, Fiona; Tysnes, Ole-Bjørn; Alves, Guido Werner et al. (2023). Altered transcriptome-proteome coupling indicates aberrant proteostasis in Parkinson's disease. (external link)
• Gaare, Johannes Jernqvist; Dölle, Christian; Brakedal, Brage et al. (2023). Nicotinamide riboside supplementation is not associated with altered methylation homeostasis in Parkinson's disease. (external link)
• Alstadhaug, Karl Bjørnar; Tzoulis, Charalampos; Simonsen, Axel Meyer (2023). Beverages, caffeine, and Parkinson's disease. (external link)
• Neufeld, Lynnette M.; Ho, Emily; Obeid, Rima et al. (2023). Advancing nutrition science to meet evolving global health needs. (external link)
• 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. (external link)
• 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. (external link)

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. (external link)
• 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. (external link)
• 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. (external link)
• Guitton, Romain Guillaume Bernard; Sanchez Nido, Gonzalo; Tzoulis, Charalampos (2022). No evidence of extensive non-CpG methylation in mtDNA. (external link)
• Fernández-Vizarra, Erika; López-Calcerrada, Sandra; Sierra-Magro, Ana et al. (2022). Two independent respiratory chains adapt OXPHOS performance to glycolytic switch. (external link)
• 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. (external link)
• 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. (external link)
• Flønes, Irene Hana; Tzoulis, Charalampos (2022). Mitochondrial respiratory chain dysfunction—A hallmark pathology of idiopathic Parkinson’s disease?. (external link)
• 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. (external link)

2021

• 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. (external link)
• 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. (external link)
• 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. (external link)
• 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. (external link)
• 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. (external link)
• Mostafavi, Sepideh; Balafkan, Novin; Pettersen, Ina Katrine Nitschke et al. (2021). Distinct Mitochondrial Remodeling During Mesoderm Differentiation in a Human-Based Stem Cell Model. (external link)
• 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. (external link)
• 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. (external link)

2020

• Dick, Fiona; Sanchez Nido, Gonzalo; Alves, Guido Werner et al. (2020). Differential transcript usage in the Parkinson’s disease brain. (external link)
• 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. (external link)
• 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. (external link)
• 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. (external link)
• Liang, Xiao; Kristiansen, Cecilie Katrin; Mostafavi, Sepideh et al. (2020). Disease-specific phenotypes in iPSC-derived neural stem cells with POLG mutations. (external link)
• Varhaug, Kristin Nielsen; Sanchez Nido, Gonzalo; de Coo, Irenaeus et al. (2020). Using urine to diagnose large-scale mtDNA deletions in adult patients. (external link)
• 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. (external link)
• 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. (external link)

2019

• BHATT, PADMANABH SHRIKANT; Tzoulis, Charalampos; Balafkan, Novin et al. (2019). Mitochondrial DNA depletion in sporadic inclusion body myositis. (external link)
• 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. (external link)
• Flønes, Irene Hana; Tzoulis, Charalampos; Dölle, Christian et al. (2019). Mitochondrial mechanisms in neurodegeneration. (external link)

2018

• Flønes, Irene Hana; Tzoulis, Charalampos (2018). Movement disorders in mitochondrial disease: a clinicopathological correlation. (external link)
• 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. (external link)
• Erga, Aleksander Hagen; Dalen, Ingvild; Ushakova, Anastasia et al. (2018). Dopaminergic and opioid pathways associated with impulse control disorders in Parkinson's disease. (external link)
• 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. (external link)
• Maple-Grødem, Jodi; Chung, Janete; Lunde, Kristin Aaser et al. (2018). Alzheimer disease associated variants in SORL1 accelerate dementia development in Parkinson disease. (external link)
• Sanchez Nido, Gonzalo; Dölle, Christian; Flønes, Irene Hana et al. (2018). Ultradeep mapping of neuronal mitochondrial deletions in Parkinson's disease. (external link)
• Dölle, Christian; Bindoff, Laurence; Tzoulis, Charalampos (2018). 3,3'-Diaminobenzidine staining interferes with PCR-based DNA analysis. (external link)
• Lunde, Kristin Aaser; Chung, Janete; Dalen, Ingvild et al. (2018). Association of glucocerebrosidase polymorphisms and mutations with dementia in incident Parkinson's disease. (external link)
• 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). (external link)
• 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. (external link)

2017

• Brakedal, Brage; Haugarvoll, Kristoffer; Tzoulis, Charalampos (2017). Simvastatin is associated with decreased risk of Parkinson disease. (external link)
• Brakedal, Brage; Flønes, Irene Hana; Reiter, Simone B. C. Frizell et al. (2017). Glitazone use associated with reduced risk of Parkinson's disease. (external link)
• Osuagwu, Nelson Uchechukwu; Tzoulis, Charalampos; Dölle, Christian (2017). High-resolution subcellular localization of pathogenic proteins in Parkinson's disease. (external link)
• 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. (external link)
• Tzoulis, Charalampos; Henriksen, Eilen Holm; Miletic, Hrvoje et al. (2017). No evidence of ischemia in stroke-like lesions of mitochondrial POLG encephalopathy. (external link)
• Varhaug, Kristin; Vedeler, Christian A.; Tzoulis, Charalampos et al. (2017). Multippel sklerose - en mitokondriemediert sykdom?. (external link)
• 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. (external link)
• 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. (external link)
• Talasila, Krishna Mukharji; Røsland, Gro Vatne; Hagland, Hanne Røland et al. (2017). The angiogenic switch leads to a metabolic shift in human glioblastoma. (external link)
• 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. (external link)

2016

• Dölle, Christian; Flønes, Irene Hana; Sanchez Nido, Gonzalo et al. (2016). Defective mitochondrial DNA homeostasis in the substantia nigra in Parkinson disease. (external link)
• 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. (external link)
• Tzoulis, Charalampos; Schwarzlmüller, Thomas; Biermann, Martin et al. (2016). Mitochondrial DNA homeostasis is essential for nigrostriatal integrity. (external link)
• Haugarvoll, Kristoffer; Bindoff, Laurence; Tzoulis, Charalampos (2016). Nigrostriatal denervation sine parkinsonism. (external link)
• 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. (external link)
• Hikmat, Omar; Tzoulis, Charalampos; Knappskog, Per et al. (2016). ADCK3 mutations with epilepsy, stroke-like episodes and ataxia: a POLG mimic?. (external link)
• 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. (external link)
• Abdullah, Rashed; Patil, Ketan S.; Rosen, Benjamin et al. (2016). Subcellular Parkinson’s disease-specific alpha-synuclein species show altered behavior in neurodegeneration. (external link)

2015

• Tzoulis, Charalompos; Zayats, Tetyana; Knappskog, Per et al. (2015). HTRA2 p.G399S in Parkinson disease, essential tremor, and tremulous cervical dystonia. (external link)
• Bjørk, Marte Helene; Gjerde, Ivar Otto; Tzoulis, Charalampos et al. (2015). En mann i 50-årene med høyt ferritinnivå og økende kognitiv svikt. (external link)
• Albanese, Alberto; Abbruzzese, Giovanni; Dressler, Dirk et al. (2015). Practical guidance for CD management involving treatment of botulinum toxin: a consensus statement. (external link)
• Flønes, Irene Hana; Haugarvoll, Kristoffer; Sundal, Christina Heidemann et al. (2015). En kvinne i 70-årene med langvarige gangvansker. (external link)
• Tzoulis, Charalampos; Schwarzlmüller, Thomas; Gjerde, Ivar Otto et al. (2015). Excellent response of intramedullary Erdheim-Chester disease to vemurafenib: a case report. (external link)

2014

• Wedding, Iselin Marie; Koht, Jeanette ; Tran, Gia Tuong Thi et al. (2014). Spastic paraplegia type 7 is associated with multiple mitochondrial DNA deletions. (external link)
• Sofou, Kalliopi; De Coo, Irenaeus F.M.; Isohanni, Pirjo et al. (2014). A multicenter study on Leigh syndrome: Disease course and predictors of survival. (external link)
• Tzoulis, Charalampos; Tran, Gia Tuong Thi; Coxhead, Jonathan et al. (2014). Molecular pathogenesis of polymerase gamma-related neurodegeneration. (external link)
• Haugarvoll, Kristoffer; Tzoulis, Charalampos; Tran, Gia Tuong Thi et al. (2014). Myoclonus-dystonia and epilepsy in a family with a novel epsilon-sarcoglycan mutation. (external link)

2013

• Tzoulis, Charalampos; Tran, Gia Tuong Thi; Schwarzlmüller, Thomas et al. (2013). Severe nigrostriatal degeneration without clinical parkinsonism in patients with polymerase gamma mutations. (external link)
• 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. (external link)
• Tzoulis, Charalampos; Vedeler, Christian A.; Haugen, Mette et al. (2013). Progressive striatal necrosis associated with anti-NMDA receptor antibodies. (external link)
• Haugarvoll, Kristoffer; Johansson, Stefan; Tzoulis, Charalampos et al. (2013). MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing. (external link)

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. (external link)
• Tzoulis, Charalampos; Bindoff, Laurence (2012). Acute mitochondrial encephalopathy reflects neuronal energy failure irrespective of which genome the genetic defect affects. (external link)
• 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. (external link)
• 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. (external link)
• Tzoulis, Charalampos; Gjerde, Ivar Otto; Søfteland, Eirik et al. (2012). Erdheim-Chester disease presenting with an intramedullary spinal cord lesion. (external link)
• 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. (external link)

2011

• Bindoff, Laurence; Tzoulis, Charalampos (2011). Defining the mitochondrial POLG-related spinocerebellar ataxia and epilepsy in Norway. (external link)

2010

• Tzoulis, Charalampos (2010). Clinical and molecular studies of disease caused by mutations of the mitochondrial DNA polymerase gamma (POLG). (external link)
• Tzoulis, Charalampos; Neckelmann, Gesche F; Mørk, Sverre et al. (2010). Localized cerebral energy failure in mitochondrial polymerase gamma-associated encephalopathy. (external link)
• Tzoulis, Charalampos; Neckelmann, Gesche F; Mørk, Sverre et al. (2010). Localized cerebral energy failure in DNA polymerase gamma-associated encephalopathy syndromes. (external link)
• Sanaker, Petter Schandl; Toompuu, Marina; Hogan, Vanessa E. et al. (2010). Differences in RNA processing underlie the tissue specific phenotype of ISCU myopathy. (external link)

2009

• 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. (external link)
• 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). (external link)
• 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?. (external link)
• Tzoulis, Charalampos; Papingji, Migena; Fiskestrand, Torunn et al. (2009). Mitochondrial DNA depletion in progressive external ophthalmoplegia caused by POLG1 mutations. (external link)
• 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. (external link)
• Tzoulis, Charalampos; Bindoff, Laurence (2009). Serial Diffusion Imaging in a Case of Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes. (external link)

2008

• Engelsen, Bernt; Tzoulis, Charalampos; Karlsen, Bjørn et al. (2008). POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection. (external link)
• Tzoulis, Charalampos; Denora, Paola S.; Santorelli, Filippo M et al. (2008). Hereditary spastic paraplegia caused by the novel mutation 1047insC in the SPG7 gene. (external link)

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. (external link)
• Tzoulis, Charalampos; Denora, Paola S.; Bindoff, Laurence (2007). Hereditary spastic paraplegia caused by the novel mutation 1047INSC in the SPG7 gene. (external link)
• Tzoulis, Charalampos; Bindoff, Laurence (2007). MELAS associated with mutations in the POLG1 gene. (external link)

2006

• Engelsen, Bernt; Tzoulis, Charalampos; Zeviani, Massimo et al. (2006). The clinical semiology of epilepsy in patients with mitochondriopathy due to polymerasegamma-(POLG) mutations. (external link)
• 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. (external link)
• 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. (external link)

See a complete overview of publications in Cristin.

For our up-to-date reserach projects, please check the group website: Neuromics Lab.