Mitochondrial ATP synthase: architecture, function and pathology AI Jonckheere, JAM Smeitink, RJT Rodenburg Journal of inherited metabolic disease 35, 211-225, 2012 | 718 | 2012 |
Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations LC López, M Schuelke, CM Quinzii, T Kanki, RJT Rodenburg, A Naini, ... The American Journal of Human Genetics 79 (6), 1125-1129, 2006 | 448 | 2006 |
Spectrophotometric assay for complex I of the respiratory chain in tissue samples and cultured fibroblasts AJM Janssen, FJM Trijbels, RCA Sengers, JAM Smeitink, ... Clinical chemistry 53 (4), 729-734, 2007 | 409 | 2007 |
A Post‐Hoc Comparison of the Utility of S anger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases K Neveling, I Feenstra, C Gilissen, LH Hoefsloot, EJ Kamsteeg, ... Human mutation 34 (12), 1721-1726, 2013 | 405 | 2013 |
Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease F Distelmaier, WJH Koopman, LP Van Den Heuvel, RJ Rodenburg, ... Brain 132 (4), 833-842, 2009 | 377 | 2009 |
Mitochondrial disease criteria: diagnostic applications in children E Morava, L van den Heuvel, F Hol, MC De Vries, M Hogeveen, ... Neurology 67 (10), 1823-1826, 2006 | 346 | 2006 |
Iron deficiency impairs contractility of human cardiomyocytes through decreased mitochondrial function MF Hoes, N Grote Beverborg, JD Kijlstra, J Kuipers, DW Swinkels, ... European journal of heart failure 20 (5), 910-919, 2018 | 334 | 2018 |
Overexpression of Akt converts radial growth melanoma to vertical growth melanoma B Govindarajan, JE Sligh, BJ Vincent, M Li, JA Canter, BJ Nickoloff, ... The Journal of clinical investigation 117 (3), 719-729, 2007 | 327 | 2007 |
Microbial stimulation of different Toll-like receptor signalling pathways induces diverse metabolic programmes in human monocytes E Lachmandas, L Boutens, JM Ratter, A Hijmans, GJ Hooiveld, ... Nature microbiology 2 (3), 1-10, 2016 | 293 | 2016 |
A guide to diagnosis and treatment of Leigh syndrome F Baertling, RJ Rodenburg, J Schaper, JA Smeitink, WJH Koopman, ... Journal of Neurology, Neurosurgery & Psychiatry 85 (3), 257-265, 2014 | 290 | 2014 |
Whole exome sequencing of suspected mitochondrial patients in clinical practice SB Wortmann, DA Koolen, JA Smeitink, L van den Heuvel, RJ Rodenburg Journal of inherited metabolic disease 38, 437-443, 2015 | 261 | 2015 |
SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness R Carrozzo, C Dionisi-Vici, U Steuerwald, S Lucioli, F Deodato, ... Brain 130 (3), 862-874, 2007 | 250 | 2007 |
Enhanced number and activity of mitochondria in multiple sclerosis lesions ME Witte, L Bø, RJ Rodenburg, JA Belien, R Musters, T Hazes, LT Wintjes, ... The Journal of Pathology: A Journal of the Pathological Society of Great …, 2009 | 249 | 2009 |
Biochemical diagnosis of mitochondrial disorders RJT Rodenburg Journal of inherited metabolic disease 34, 283-292, 2011 | 248 | 2011 |
Statin-induced myopathy is associated with mitochondrial complex III inhibition TJJ Schirris, GH Renkema, T Ritschel, NC Voermans, A Bilos, ... Cell metabolism 22 (3), 399-407, 2015 | 246 | 2015 |
Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome JA Mayr, TB Haack, E Graf, FA Zimmermann, T Wieland, B Haberberger, ... The American Journal of Human Genetics 90 (2), 314-320, 2012 | 232 | 2012 |
Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness SB Wortmann, FM Vaz, T Gardeitchik, LELM Vissers, GH Renkema, ... Nature genetics 44 (7), 797-802, 2012 | 227 | 2012 |
Depletion of PINK1 affects mitochondrial metabolism, calcium homeostasis and energy maintenance B Heeman, C Van den Haute, SA Aelvoet, F Valsecchi, RJ Rodenburg, ... Journal of cell science 124 (7), 1115-1125, 2011 | 223 | 2011 |
Acyl-CoA dehydrogenase 9 is required for the biogenesis of oxidative phosphorylation complex I J Nouws, L Nijtmans, SM Houten, M van den Brand, M Huynen, ... Cell metabolism 12 (3), 283-294, 2010 | 222 | 2010 |
Cardiolipin and monolysocardiolipin analysis in fibroblasts, lymphocytes, and tissues using high-performance liquid chromatography–mass spectrometry as a diagnostic test for … RH Houtkooper, RJ Rodenburg, C Thiels, H van Lenthe, F Stet, ... Analytical biochemistry 387 (2), 230-237, 2009 | 209 | 2009 |