| A second common mutation in the methylenetetrahydrofolate reductase gene: an additional risk factor for neural-tube defects? NMJ van der Put, F Gabreëls, EMB Stevens, JAM Smeitink, FJM Trijbels, ... The American Journal of Human Genetics 62 (5), 1044-1051, 1998 | 2088 | 1998 |
| Mitochondrial toxicity induced by nucleoside-analogue reverse-transcriptase inhibitors is a key factor in the pathogenesis of antiretroviral-therapy-related lipodystrophy K Brinkman, JA Smeitink, JA Romijn, P Reiss The Lancet 354 (9184), 1112-1115, 1999 | 1115 | 1999 |
| Adverse effects of reverse transcriptase inhibitors: mitochondrial toxicity as common pathway K Brinkman, HJM ter Hofstede, DM Burger, JAM Smeitink, PP Koopmans Aids 12 (14), 1735-1744, 1998 | 1079 | 1998 |
| The genetics and pathology of oxidative phosphorylation J Smeitink, L van den Heuvel, S DiMauro Nature Reviews Genetics 2 (5), 342-352, 2001 | 874 | 2001 |
| Mitochondrial ATP synthase: architecture, function and pathology AI Jonckheere, JAM Smeitink, RJT Rodenburg Journal of inherited metabolic disease 35, 211-225, 2012 | 705 | 2012 |
| The natural course of infantile Pompe’s disease: 20 original cases compared with 133 cases from the literature HMP van den Hout, W Hop, OP van Diggelen, JAM Smeitink, GPA Smit, ... Pediatrics 112 (2), 332-340, 2003 | 625 | 2003 |
| Monogenic mitochondrial disorders WJH Koopman, PHGM Willems, JAM Smeitink New England Journal of Medicine 366 (12), 1132-1141, 2012 | 596 | 2012 |
| Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation GC Scheper, T Van Der Klok, RJ Van Andel, CGM Van Berkel, M Sissler, ... Nature genetics 39 (4), 534-539, 2007 | 538 | 2007 |
| Mitochondrial creatine kinase: a key enzyme of aerobic energy metabolism M Wyss, J Smeitink, RA Wevers, T Wallimann Biochimica et Biophysica Acta (BBA)-Bioenergetics 1102 (2), 119-166, 1992 | 515 | 1992 |
| Mammalian mitochondrial complex I: biogenesis, regulation, and reactive oxygen species generation WJH Koopman, LGJ Nijtmans, CEJ Dieteren, P Roestenberg, F Valsecchi, ... Antioxidants & redox signaling 12 (12), 1431-1470, 2010 | 478 | 2010 |
| FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study A Suomalainen, JM Elo, KH Pietiläinen, AH Hakonen, K Sevastianova, ... The Lancet Neurology 10 (9), 806-818, 2011 | 466 | 2011 |
| Mitochondrial function and morphology are impaired in parkin‐mutant fibroblasts H Mortiboys, KJ Thomas, WJH Koopman, S Klaffke, P Abou‐Sleiman, ... Annals of Neurology: Official Journal of the American Neurological …, 2008 | 427 | 2008 |
| Long-term intravenous treatment of Pompe disease with recombinant human α-glucosidase from milk JMP Van den Hout, JHJ Kamphoven, LPF Winkel, WFM Arts, JBCD Klerk, ... Pediatrics 113 (5), e448-e457, 2004 | 419 | 2004 |
| 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 | 406 | 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 | 400 | 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 | 376 | 2009 |
| Isolated complex I deficiency in children: clinical, biochemical and genetic aspects J Loeffen, JAM Smeitink, JMF Trijbels, AJM Janssen, RH Triepels, ... Human mutation 15 (2), 123-134, 2000 | 367 | 2000 |
| The first nuclear-encoded complex I mutation in a patient with Leigh syndrome J Loeffen, J Smeitink, R Triepels, R Smeets, M Schuelke, R Sengers, ... The American Journal of Human Genetics 63 (6), 1598-1608, 1998 | 363 | 1998 |
| Application of a ketogenic diet in children with autistic behavior: pilot study A Evangeliou, I Vlachonikolis, H Mihailidou, M Spilioti, A Skarpalezou, ... Journal of child neurology 18 (2), 113-118, 2003 | 345 | 2003 |
| 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 | 343 | 2006 |
