Prof. dr. Jan A.M. Smeitink
Prof. dr. Jan A.M. Smeitink
Professor in Mitochondrial Medicine
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Cited by
Cited by
A second common mutation in the methylenetetrahydrofolate reductase gene: an additional risk factor for neural-tube defects?
NMJ van der Put, F GabreŽls, EMB Stevens, JAM Smeitink, FJM Trijbels, ...
The American Journal of Human Genetics 62 (5), 1044-1051, 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
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
The genetics and pathology of oxidative phosphorylation
J Smeitink, L van den Heuvel, S DiMauro
Nature Reviews Genetics 2 (5), 342-352, 2001
Mitochondrial ATP synthase: architecture, function and pathology
AI Jonckheere, JAM Smeitink, RJT Rodenburg
Journal of inherited metabolic disease 35, 211-225, 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
Monogenic mitochondrial disorders
WJH Koopman, PHGM Willems, JAM Smeitink
New England Journal of Medicine 366 (12), 1132-1141, 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
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
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
FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study
A Suomalainen, JM Elo, KH Pietilšinen, AH Hakonen, K Sevastianova, ...
The Lancet Neurology 10 (9), 806-818, 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
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
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
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
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
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
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
Mitochondrial complex I: structure, function and pathology
RJRJ Janssen, LG Nijtmans, LP Heuvel, JAM Smeitink
Journal of Inherited Metabolic Disease: Official Journal of the Society for†…, 2006
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
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