Guitton R; Dölle C; Alves G; Ole-Bjørn T; Nido GS; Tzoulis C, 2022. Ultra-deep whole genome bisulfite sequencing reveals a single methylation hotspot in human brain mitochondrial DNA. Epigenetics.

Szwedo AA; Dalen I; Pedersen KF; Camacho M; Bäckström D; Forsgren L; Tzoulis C; Winder-Rhodes S; Hudson G; Liu G; Scherzer CR; Lawson RA; Yarnall AJ; Williams-Gray CH; Macleod AD; Counsell CE; Tysnes OB; Alves G; Maple-Grødem J, 2022. GBA and APOE Impact Cognitive Decline in Parkinson’s Disease: A 10-Year Population-Based Study. Mov Disord.

Brakedal B; Toker L; Haugarvoll K; Tzoulis C, 2022. A nationwide study of the incidence, prevalence and mortality of Parkinson’s disease in the Norwegian population. NPJ Parkinsons Dis 8(1):19

Brakedal B; Dölle C; Riemer F; Ma Y; Nido GS; Skeie GO; Craven AR; Schwarzlmüller T; Brekke N; Diab J; Sverkeli L; Skjeie V; Varhaug K; Tysnes OB; Peng S; Haugarvoll K; Ziegler M; Grüner R; Eidelberg D; Tzoulis C, 2022. The NADPARK study: A randomized phase I trial of nicotinamide riboside supplementation in Parkinson’s disease. Cell Metab 34(3):396-407.e6

Pakdaman Y; Denker E; Austad E; Norton WHJ; Rolfsnes HO; Bindoff LA; Tzoulis C; Aukrust I; Knappskog PM; Johansson S; Ellingsen S, 2021. Chip Protein U-Box Domain Truncation Affects Purkinje Neuron Morphology and Leads to Behavioral Changes in Zebrafish. Front Mol Neurosci 14:723912

Chung J; Ushakova A; Doitsidou M; Tzoulis C; Tysnes OB; Dalen I; Pedersen KF; Alves G; Maple-Grødem J, 2021. The impact of common genetic variants in cognitive decline in the first seven years of Parkinson’s disease: A longitudinal observational study. Neurosci Lett 764:136243

SenGupta T; Palikaras K; Esbensen YQ; Konstantinidis G; Galindo FJN; Achanta K; Kassahun H; Stavgiannoudaki I; Bohr VA; Akbari M; Gaare J; Tzoulis C; Tavernarakis N; Nilsen H, 2021. Base excision repair causes age-dependent accumulation of single-stranded DNA breaks that contribute to Parkinson disease pathology. Cell Rep 36(10):109668

Brakedal B; Tzoulis C; Tysnes OB; Haugarvoll K, 2021. NSAID use is not associated with Parkinson’s disease incidence: A Norwegian Prescription Database study. PLoS One 16(9):e0256602

Kent R; Robertson A; Quiñones Aguilar S; Tzoulis C; Maltman J, 2021. Real-World Dosing of OnabotulinumtoxinA and IncobotulinumtoxinA for Cervical Dystonia and Blepharospasm: Results from TRUDOSE and TRUDOSE II. Toxins (Basel) 13.

Toker L; Tran GT; Sundaresan J; Tysnes OB; Alves G; Haugarvoll K; Nido GS; Dölle C; Tzoulis C, 2021. Genome-wide histone acetylation analysis reveals altered transcriptional regulation in the Parkinson’s disease brain. Mol Neurodegener 16(1):31

Mostafavi S; Balafkan N; Pettersen IKN; Nido GS; Siller R; Tzoulis C; Sullivan GJ; Bindoff LA, 2021. Distinct Mitochondrial Remodeling During Mesoderm Differentiation in a Human-Based Stem Cell Model. Front Cell Dev Biol 9:744777

Nido GS; Dick F; Toker L; Petersen K; Alves G; Tysnes OB; Jonassen I; Haugarvoll K; Tzoulis C, 2020. Common gene expression signatures in Parkinson’s disease are driven by changes in cell composition. Acta Neuropathol Commun 8(1):55

Gilmour BC; Gudmundsrud R; Frank J; Hov A; Lautrup S; Aman Y; Røsjø H; Brenner C; Ziegler M; Tysnes OB; Tzoulis C; Omland T; Søraas A; Holmøy T; Bergersen LH; Storm-Mathisen J; Nilsen H; Fang EF, 2020. Targeting NAD in translational research to relieve diseases and conditions of metabolic stress and ageing. Mech Ageing Dev 186:111208

Flønes IH; Ricken G; Klotz S; Lang A; Ströbel T; Dölle C; Kovacs GG; Tzoulis C, 2020. Mitochondrial respiratory chain deficiency correlates with the severity of neuropathology in sporadic Creutzfeldt-Jakob disease. Acta Neuropathol Commun 8(1):50

Dick F; Nido GS; Alves GW; Tysnes OB; Nilsen GH; Dölle C; Tzoulis C, 2020. Differential transcript usage in the Parkinson’s disease brain. PLoS Genet 16(11):e1009182

Husebo BS; Allore H; Achterberg W; Angeles RC; Ballard C; Bruvik FK; Fæø SE; Gedde MH; Hillestad E; Jacobsen FF; Kirkevold Ø; Kjerstad E; Kjome RLS; Mannseth J; Naik M; Nouchi R; Puaschitz N; Samdal R; Tranvåg O; Tzoulis C; Vahia IV; Vislapuu M; Berge LI, 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. Trials 21(1):510

Varhaug KN; Nido GS; de Coo I; Isohanni P; Suomalainen A; Tzoulis C; Knappskog P; Bindoff LA, 2020. Using urine to diagnose large-scale mtDNA deletions in adult patients. Ann Clin Transl Neurol 7(8):1318-1326

Liang KX; Kristiansen CK; Mostafavi S; Vatne GH; Zantingh GA; Kianian A; Tzoulis C; Høyland LE; Ziegler M; Perez RM; Furriol J; Zhang Z; Balafkan N; Hong Y; Siller R; Sullivan GJ; Bindoff LA, 2020. Disease-specific phenotypes in iPSC-derived neural stem cells with POLG mutations. EMBO Mol Med 12(10):e12146

Gaare JJ; Nido G; Dölle C; Sztromwasser P; Alves G; Tysnes OB; Haugarvoll K; Tzoulis C, 2020. Meta-analysis of whole-exome sequencing data from two independent cohorts finds no evidence for rare variant enrichment in Parkinson disease associated loci. PLoS One 15(10):e0239824. 

Hikmat O; Tzoulis C; Chong WK; Chentouf L; Klingenberg C; Fratter C; Carr LJ; Prabhakar P; Kumaraguru N; Gissen P; Cross JH; Jacques TS; Taanman JW; Bindoff LA; Rahman S, 2019. Correction: The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations. Genet Med 21(4):1027

Osuagwu N; Dölle C; Tzoulis C, 2019. Poly-ADP-ribose assisted protein localization resolves that DJ-1, but not LRRK2 or α-synuclein, is localized to the mitochondrial matrix. PLoS One 14(7):e0219909

Bhatt PS; Tzoulis C; Balafkan N; Miletic H; Tran GTT; Sanaker PS; Bindoff LA, 2019. Mitochondrial DNA depletion in sporadic inclusion body myositis. Neuromuscul Disord 29(3):242-246

Gaare JJ; Nido GS; Sztromwasser P; Knappskog PM; Dahl O; Lund-Johansen M; Alves G; Tysnes OB; Johansson S; Haugarvoll K; Tzoulis C, 2018. No evidence for rare TRAP1 mutations influencing the risk of idiopathic Parkinson’s disease. Brain 141(3):e16

Hikmat O; Tzoulis C; Klingenberg C; Rasmussen M; Tallaksen CME; Brodtkorb E; Fiskerstrand T; McFarland R; Rahman S; Bindoff LA, 2018. Erratum to: The presence of anaemia negatively influences survival in patients with POLG disease. J Inherit Metab Dis 41(1):153

Sofou K; de Coo IFM; Ostergaard E; Isohanni P; Naess K; De Meirleir L; Tzoulis C; Uusimaa J; Lönnqvist T; Bindoff LA; Tulinius M; Darin N, 2018. Phenotype-genotype correlations in Leigh syndrome: new insights from a multicentre study of 96 patients. J Med Genet 55(1):21-27

Nido GS; Dölle C; Flønes I; Tuppen HA; Alves G; Tysnes OB; Haugarvoll K; Tzoulis C, 2018. Ultradeep mapping of neuronal mitochondrial deletions in Parkinson’s disease. Neurobiol Aging 63:120-127

Dölle C; Bindoff LA; Tzoulis C, 2018. 3,3′-Diaminobenzidine staining interferes with PCR-based DNA analysis. Sci Rep 8(1):1272

Flønes IH; Fernandez-Vizarra E; Lykouri M; Brakedal B; Skeie GO; Miletic H; Lilleng PK; Alves G; Tysnes OB; Haugarvoll K; Dölle C; Zeviani M; Tzoulis C, 2018. Neuronal complex I deficiency occurs throughout the Parkinson’s disease brain, but is not associated with neurodegeneration or mitochondrial DNA damage. Acta Neuropathol 135(3):409-425

Stige KE; Gjerde IO; Houge G; Knappskog PM; Tzoulis C, 2018. Beta-propeller protein-associated neurodegeneration: a case report and review of the literature. Clin Case Rep 6(2):353-362

Erga AH; Dalen I; Ushakova A; Chung J; Tzoulis C; Tysnes OB; Alves G; Pedersen KF; Maple-Grødem J, 2018. Dopaminergic and Opioid Pathways Associated with Impulse Control Disorders in Parkinson’s Disease. Front Neurol 9:109

Maple-Grødem J; Chung J; Lunde KA; Tzoulis C; Tysnes OB; Pedersen KF; Alves G, 2018. Alzheimer disease associated variants in SORL1 accelerate dementia development in Parkinson disease. Neurosci Lett 674:123-126

Flønes IH; Tzoulis C, 2018. Movement disorders in mitochondrial disease: a clinicopathological correlation. Curr Opin Neurol 31(4):472-483

Lunde KA; Chung J; Dalen I; Pedersen KF; Linder J; Domellöf ME; Elgh E; Macleod AD; Tzoulis C; Larsen JP; Tysnes OB; Forsgren L; Counsell CE; Alves G; Maple-Grødem J, 2018. Association of glucocerebrosidase polymorphisms and mutations with dementia in incident Parkinson’s disease. Alzheimers Dement 14(10):1293-1301

Gaare JJ; Nido GS; Sztromwasser P; Knappskog PM; Dahl O; Lund-Johansen M; Maple-Grødem J; Alves G; Tysnes OB; Johansson S; Haugarvoll K; Tzoulis C, 2018. Rare genetic variation in mitochondrial pathways influences the risk for Parkinson’s disease. Mov Disord 33(10):1591-1600

Varhaug KN; Vedeler CA; Myhr KM; Aarseth JH; Tzoulis C; Bindoff LA, 2017. Increased levels of cell-free mitochondrial DNA in the cerebrospinal fluid of patients with multiple sclerosis. Mitochondrion 34:32-35

Talasila KM; Røsland GV; Hagland HR; Eskilsson E; Flønes IH; Fritah S; Azuaje F; Atai N; Harter PN; Mittelbronn M; Andersen M; Joseph JV; Hossain JA; Vallar L; Noorden CJ; Niclou SP; Thorsen F; Tronstad KJ; Tzoulis C; Bjerkvig R; Miletic H, 2017. The angiogenic switch leads to a metabolic shift in human glioblastoma. Neuro Oncol 19(3):383-393

Abdullah R; Patil KS; Rosen B; Pal R; Prabhudesai S; Lee S; Basak I; Hoedt E; Yang P; Panick K; Ho HP; Chang E; Tzoulis C; Larsen JP; Neubert TA; Alves G; Møller SG, 2017. Subcellular Parkinson’s Disease-Specific Alpha-Synuclein Species Show Altered Behavior in Neurodegeneration. Mol Neurobiol 54(10):7639-7655

Tzoulis C; Henriksen E; Miletic H; Bindoff LA, 2017. No evidence of ischemia in stroke-like lesions of mitochondrial POLG encephalopathy. Mitochondrion 32:10-15

Gaare JJ; Skeie GO; Tzoulis C; Larsen JP; Tysnes OB, 2017. Familial aggregation of Parkinson’s disease may affect progression of motor symptoms and dementia. Mov Disord 32(2):241-245

Pakdaman Y; Sanchez-Guixé M; Kleppe R; Erdal S; Bustad HJ; Bjørkhaug L; Haugarvoll K; Tzoulis C; Heimdal K; Knappskog PM; Johansson S; Aukrust I, 2017. In vitro characterization of six STUB1 variants in spinocerebellar ataxia 16 reveals altered structural properties for the encoded CHIP proteins. Biosci Rep 37.

Brakedal B; Haugarvoll K; Tzoulis C, 2017. Simvastatin is associated with decreased risk of Parkinson disease. Ann Neurol 81(2):329-330

Hikmat O; Tzoulis C; Chong WK; Chentouf L; Klingenberg C; Fratter C; Carr LJ; Prabhakar P; Kumaraguru N; Gissen P; Cross JH; Jacques TS; Taanman JW; Bindoff LA; Rahman S, 2017. The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations. Genet Med 19(11):1217-1225

Hikmat O; Eichele T; Tzoulis C; Bindoff LA, 2017. Understanding the Epilepsy in POLG Related Disease. Int J Mol Sci 18.

Brakedal B; Flønes I; Reiter SF; Torkildsen Ø; Dölle C; Assmus J; Haugarvoll K; Tzoulis C, 2017. Glitazone use associated with reduced risk of Parkinson’s disease. Mov Disord 32(11):1594-1599

Hikmat O; Tzoulis C; Klingenberg C; Rasmussen M; Tallaksen CME; Brodtkorb E; Fiskerstrand T; McFarland R; Rahman S; Bindoff LA, 2017. The presence of anaemia negatively influences survival in patients with POLG disease. J Inherit Metab Dis 40(6):861-866

Varhaug KN; Vedeler CA; Tzoulis C; Bindoff LA, 2017. [Multiple sclerosis – a mitochondria-mediated disease?]. Tidsskr Nor Laegeforen 137(4):284-287

Dölle C; Flønes I; Nido GS; Miletic H; Osuagwu N; Kristoffersen S; Lilleng PK; Larsen JP; Tysnes OB; Haugarvoll K; Bindoff LA; Tzoulis C, 2016. Defective mitochondrial DNA homeostasis in the substantia nigra in Parkinson disease. Nat Commun 7:13548

Tzoulis C; Schwarzlmüller T; Biermann M; Haugarvoll K; Bindoff LA, 2016. Mitochondrial DNA homeostasis is essential for nigrostriatal integrity. Mitochondrion 28:33-7

Flønes I; Sztromwasser P; Haugarvoll K; Dölle C; Lykouri M; Schwarzlmüller T; Jonassen I; Miletic H; Johansson S; Knappskog PM; Bindoff LA; Tzoulis C, 2016. Novel SLC19A3 Promoter Deletion and Allelic Silencing in Biotin-Thiamine-Responsive Basal Ganglia Encephalopathy. PLoS One 11(2):e0149055

Haugarvoll K; Bindoff LA; Tzoulis C, 2016. Nigrostriatal denervation sine parkinsonism. Brain 139(Pt 4):e25

Flønes IH; Haugarvoll K; Sundal C; Tzoulis C, 2015. A woman in her 70s with chronic walking difficulties. Tidsskr Nor Laegeforen 135(19):1753-5

Bjørk MH; Gjerde IO; Tzoulis C; Ulvik RJ; Bindoff LA, 2015. A man in his 50s with high ferritin levels and increasing cognitive impairment. Tidsskr Nor Laegeforen 135(15):1369-72

Tzoulis C; Schwarzlmüller T; Gjerde IO; Søfteland E; Neckelmann G; Biermann M; Haroche J; Straume O; Vintermyr OK, 2015. Excellent response of intramedullary Erdheim-Chester disease to vemurafenib: a case report. BMC Res Notes 8:171

Albanese A; Abbruzzese G; Dressler D; Duzynski W; Khatkova S; Marti MJ; Mir P; Montecucco C; Moro E; Pinter M; Relja M; Roze E; Skogseid IM; Timerbaeva S; Tzoulis C, 2015. Practical guidance for CD management involving treatment of botulinum toxin: a consensus statement. J Neurol 262(10):2201-13

Tzoulis C; Zayats T; Knappskog PM; Müller B; Larsen JP; Tysnes OB; Bindoff LA; Johansson S; Haugarvoll K, 2015. HTRA2 p.G399S in Parkinson disease, essential tremor, and tremulous cervical dystonia. Proc Natl Acad Sci U S A 112(18):E2268

Wedding IM; Koht J; Tran GT; Misceo D; Selmer KK; Holmgren A; Frengen E; Bindoff L; Tallaksen CM; Tzoulis C, 2014. Spastic paraplegia type 7 is associated with multiple mitochondrial DNA deletions. PLoS One 9(1):e86340

Haugarvoll K; Tzoulis C; Tran GT; Karlsen B; Engelsen BA; Knappskog PM; Bindoff LA, 2014. Myoclonus-dystonia and epilepsy in a family with a novel epsilon-sarcoglycan mutation. J Neurol 261(2):358-62

Tzoulis C; Tran GT; Coxhead J; Bertelsen B; Lilleng PK; Balafkan N; Payne B; Miletic H; Chinnery PF; Bindoff LA, 2014. Molecular pathogenesis of polymerase γ-related neurodegeneration. Ann Neurol 76(1):66-81

Sofou K; De Coo IF; Isohanni P; Ostergaard E; Naess K; De Meirleir L; Tzoulis C; Uusimaa J; De Angst IB; Lönnqvist T; Pihko H; Mankinen K; Bindoff LA; Tulinius M; Darin N, 2014. A multicenter study on Leigh syndrome: disease course and predictors of survival. Orphanet J Rare Dis 9:52

Tzoulis C; Johansson S; Haukanes BI; Boman H; Knappskog PM; Bindoff LA, 2013. Novel SACS mutations identified by whole exome sequencing in a norwegian family with autosomal recessive spastic ataxia of Charlevoix-Saguenay. PLoS One 8(6):e66145

Tzoulis C; Vedeler C; Haugen M; Storstein A; Tran GT; Gjerde IO; Biermann M; Schwarzlmüller T; Bindoff LA, 2013. Progressive striatal necrosis associated with anti-NMDA receptor antibodies. BMC Neurol 13:55

Tzoulis C; Tran GT; Schwarzlmüller T; Specht K; Haugarvoll K; Balafkan N; Lilleng PK; Miletic H; Biermann M; Bindoff LA, 2013. Severe nigrostriatal degeneration without clinical parkinsonism in patients with polymerase gamma mutations. Brain 136(Pt 8):2393-404

Haugarvoll K; Johansson S; Tzoulis C; Haukanes BI; Bredrup C; Neckelmann G; Boman H; Knappskog PM; Bindoff LA, 2013. MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing. Orphanet J Rare Dis 8:1

Tzoulis C; Gjerde IO; Søfteland E; Neckelmann G; Strøm E; Vintermyr OK; Sviland L; Biermann M, 2012. Erdheim-Chester disease presenting with an intramedullary spinal cord lesion. J Neurol 259(10):2240-2

Tzoulis C; Tran GT; Gjerde IO; Aasly J; Neckelmann G; Rydland J; Varga V; Wadel-Andersen P; Bindoff LA, 2012. Leukoencephalopathy with brainstem and spinal cord involvement caused by a novel mutation in the DARS2 gene. J Neurol 259(2):292-6

Balafkan N; Tzoulis C; Müller B; Haugarvoll K; Tysnes OB; Larsen JP; Bindoff LA, 2012. Number of CAG repeats in POLG1 and its association with Parkinson disease in the Norwegian population. Mitochondrion 12(6):640-3

Tzoulis C; Bindoff LA, 2012. Acute mitochondrial encephalopathy reflects neuronal energy failure irrespective of which genome the genetic defect affects. Brain 135(Pt 12):3627-34

Tzoulis C; Neckelmann G; Mørk SJ; Engelsen BE; Viscomi C; Moen G; Ersland L; Zeviani M; Bindoff LA, 2010. Localized cerebral energy failure in DNA polymerase gamma-associated encephalopathy syndromes. Brain 133(Pt 5):1428-37

Sanaker PS; Toompuu M; Hogan VE; He L; Tzoulis C; Chrzanowska-Lightowlers ZM; Taylor RW; Bindoff LA, 2010. Differences in RNA processing underlie the tissue specific phenotype of ISCU myopathy. Biochim Biophys Acta 1802(6):539-44

Gramstad A; Bindoff LA; Lillebø A; Tzoulis C; Engelsen BA, 2009. Neuropsychological performance in patients with POLG1 mutations and the syndrome of mitochondrial spinocerebellar ataxia and epilepsy. Epilepsy Behav 16(1):172-4

Tzoulis C; Bindoff LA, 2009. Serial diffusion imaging in a case of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes. Stroke 40(2):e15-7

Tzoulis C; Denora PS; Santorelli FM; Bindoff LA, 2008. Hereditary spastic paraplegia caused by the novel mutation 1047insC in the SPG7 gene. J Neurol 255(8):1142-4

Tzoulis C; Bindoff LA, 2008. Melas associated with mutations in the polg1 gene. Neurology 70(13):1054; author reply 1054-5

Engelsen BA; Tzoulis C; Karlsen B; Lillebø A; Laegreid LM; Aasly J; Zeviani M; Bindoff LA, 2008. POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection. Brain 131(Pt 3):818-28

Sanaker PS; Aarhus M; Lund-Johansen M; Smievoll AI; Tzoulis C; Skeie GO, 2006. [A 90-year-old woman with acute hemiparesis]. Tidsskr Nor Laegeforen 126(15):1931-3

Tzoulis C; Engelsen BA; Telstad W; Aasly J; Zeviani M; Winterthun S; Ferrari G; Aarseth JH; Bindoff LA, 2006. The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases. Brain 129(Pt 7):1685-92