The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases C Tzoulis, BA Engelsen, W Telstad, J Aasly, M Zeviani, S Winterthun, ... Brain 129 (7), 1685-1692, 2006 | 377 | 2006 |
Defective mitochondrial DNA homeostasis in the substantia nigra in Parkinson disease C Dölle, I Flønes, GS Nido, H Miletic, N Osuagwu, S Kristoffersen, ... Nature communications 7 (1), 13548, 2016 | 253 | 2016 |
A multicenter study on Leigh syndrome: disease course and predictors of survival K Sofou, IFM De Coo, P Isohanni, E Ostergaard, K Naess, L De Meirleir, ... Orphanet journal of rare diseases 9, 1-16, 2014 | 247 | 2014 |
POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection BA Engelsen, C Tzoulis, B Karlsen, A Lillebø, LM Lægreid, J Aasly, ... Brain 131 (3), 818-828, 2008 | 192 | 2008 |
The NADPARK study: A randomized phase I trial of nicotinamide riboside supplementation in Parkinson’s disease B Brakedal, C Dölle, F Riemer, Y Ma, GS Nido, GO Skeie, AR Craven, ... Cell metabolism 34 (3), 396-407. e6, 2022 | 164 | 2022 |
Neuronal complex I deficiency occurs throughout the Parkinson’s disease brain, but is not associated with neurodegeneration or mitochondrial DNA damage IH Flønes, E Fernandez-Vizarra, M Lykouri, B Brakedal, GO Skeie, ... Acta neuropathologica 135, 409-425, 2018 | 108 | 2018 |
Glitazone use associated with reduced risk of Parkinson's disease B Brakedal, I Flønes, SF Reiter, Ø Torkildsen, C Dölle, J Assmus, ... Movement Disorders 32 (11), 1594-1599, 2017 | 97 | 2017 |
Molecular pathogenesis of polymerase gamma–related neurodegeneration C Tzoulis, GT Tran, J Coxhead, B Bertelsen, PK Lilleng, N Balafkan, ... Annals of neurology 76 (1), 66-81, 2014 | 95 | 2014 |
Practical guidance for CD management involving treatment of botulinum toxin: a consensus statement A Albanese, G Abbruzzese, D Dressler, W Duzynski, S Khatkova, MJ Marti, ... Journal of neurology 262, 2201-2213, 2015 | 93 | 2015 |
Severe nigrostriatal degeneration without clinical parkinsonism in patients with polymerase gamma mutations C Tzoulis, GT Tran, T Schwarzlmüller, K Specht, K Haugarvoll, N Balafkan, ... Brain 136 (8), 2393-2404, 2013 | 92 | 2013 |
Localized cerebral energy failure in DNA polymerase gamma-associated encephalopathy syndromes C Tzoulis, G Neckelmann, SJ Mørk, BE Engelsen, C Viscomi, G Moen, ... Brain 133 (5), 1428-1437, 2010 | 88 | 2010 |
Serial diffusion imaging in a case of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes C Tzoulis, LA Bindoff Stroke 40 (2), e15-e17, 2009 | 78 | 2009 |
Genome-wide histone acetylation analysis reveals altered transcriptional regulation in the Parkinson’s disease brain L Toker, GT Tran, J Sundaresan, OB Tysnes, G Alves, K Haugarvoll, ... Molecular neurodegeneration 16, 1-20, 2021 | 74 | 2021 |
The angiogenic switch leads to a metabolic shift in human glioblastoma KM Talasila, GV Røsland, HR Hagland, E Eskilsson, IH Flønes, S Fritah, ... Neuro-oncology 19 (3), 383-393, 2017 | 71 | 2017 |
Phenotype-genotype correlations in Leigh syndrome: new insights from a multicentre study of 96 patients K Sofou, IFM de Coo, E Ostergaard, P Isohanni, K Naess, L De Meirleir, ... Journal of medical genetics 55 (1), 21-27, 2018 | 67 | 2018 |
The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations O Hikmat, C Tzoulis, WK Chong, L Chentouf, C Klingenberg, C Fratter, ... Genetics in Medicine 19 (11), 1217-1225, 2017 | 67 | 2017 |
Spastic paraplegia type 7 is associated with multiple mitochondrial DNA deletions IM Wedding, J Koht, GT Tran, D Misceo, KK Selmer, A Holmgren, ... PloS one 9 (1), e86340, 2014 | 61 | 2014 |
MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing K Haugarvoll, S Johansson, C Tzoulis, BI Haukanes, C Bredrup, ... Orphanet journal of rare diseases 8, 1-10, 2013 | 60 | 2013 |
Increased levels of cell-free mitochondrial DNA in the cerebrospinal fluid of patients with multiple sclerosis KN Varhaug, CA Vedeler, KM Myhr, JH Aarseth, C Tzoulis, LA Bindoff Mitochondrion 34, 32-35, 2017 | 59 | 2017 |
GBA and APOE Impact Cognitive Decline in Parkinson's Disease: A 10‐Year Population‐Based Study AA Szwedo, I Dalen, KF Pedersen, M Camacho, D Bäckström, L Forsgren, ... Movement Disorders 37 (5), 1016-1027, 2022 | 58 | 2022 |