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PUBLICATIONS

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2023

Berven H, Kverneng S, Sheard E, Søgnen M, Af Geijerstam SA, Haugarvoll K, Skeie GO, Dölle C, Tzoulis C.  2023. NR-SAFE: a randomized, double-blind safety trial of high dose nicotinamide riboside in Parkinson’s disease. Nat Commun.

Neufeld LM, Ho E, Obeid R, Tzoulis C, Green M, Huber LG, Stout M, Griffiths JC. 2023. Advancing nutrition science to meet evolving global health needs. Eur J Nutr.

Gaare JJ, Brügger K, Nido GS, Tzoulis C. 2023. DNA Methylation Age Acceleration Is Not Associated with Age of Onset in Parkinson’s Disease. Mov Disord. 

Dick F, Johanson GS, Tzoulis C. 2023. Neuronal loss drives differentially expressed protein-pathways in the PSP globus pallidus. Clin Transl Med. 

Toker L, Nido GS, Tzoulis C. 2023. Not every estimate counts – evaluation of cell composition estimation approaches in brain bulk tissue data. Genome Med.

Gaare JJ, Dölle C, Brakedal B, Brügger K, Haugarvoll K, Nido GS, Tzoulis C. 2023. Nicotinamide riboside supplementation is not associated with altered methylation homeostasis in Parkinson’s disease. iScience

Dick F, Tysnes OB, Alves GW, Nido GS, Tzoulis C. 2023. Altered transcriptome-proteome coupling indicates aberrant proteostasis in Parkinson’s disease. iScience. 

2022

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

2021

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

2020

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. 

2019

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

2018

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

2017

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

2016

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

2015

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

2014

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

2013

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

2012

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

2010

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

2009

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

2008

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

2006

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

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