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Full Text	Issue Date	Title	Author(s)
	2012	Monogenic mitochondrial disorders.	Koopman, W.J.H.; Willems, P.H.G.M.; Smeitink, J.A.M.
	2012	Pharmacological targeting of mitochondrial complex I deficiency: the cellular level and beyond.	Roestenberg, P.M.H.; Manjeri, G.R.; Valsecchi, F.; Smeitink, J.A.M.; Willems, P.H.G.M.; Koopman, W.J.H.
	2012	Assembly factors as a new class of disease genes for mitochondrial complex I deficiency: cause, pathology and treatment options.	Nouws, J.; Nijtmans, L.G.J.; Smeitink, J.A.M.; Vogel, R.O.
	2012	Transcriptional changes in OXPHOS complex I deficiency are related to anti-oxidant pathways and could explain the disturbed calcium homeostasis.	Voets, A.M.; Huigsloot, M.; Lindsey, P.J.; Leenders, A.M.; Koopman, W.J.H.; Willems, P.H.G.M.; Rodenburg, R.J.T.; Smeitink, J.A.M.; Smeets, H.J.M.
	2012	Mitochondrial complex III stabilizes complex I in the absence of NDUFS4 to provide partial activity.	Calvaruso, M.A.; Willems, P.H.; Brand, M.A. van den; Valsecchi, F.; Kruse, S.; Palmiter, R.; Smeitink, J.A.M.; Nijtmans, L.G.J.
	2012	Mitochondrial ATP synthase: architecture, function and pathology.	Jonckheere, A.I.; Smeitink, J.A.M.; Rodenburg, R.J.T.
	2012	Impaired ubiquitin-proteasome-mediated PGC-1alpha protein turnover and induced mitochondrial biogenesis secondary to complex-I deficiency.	Farhoud, M.H.; Nijtmans, L.G.J.; Wanders, R.J.; Wessels, H.J.C.T.; Lasonder, E.; Janssen, A.J.W.M.; Rodenburg, R.R.; Heuvel, L.P.W.J. van den; Smeitink, J.A.M.
	2012	Subunit-specific Incorporation Efficiency and Kinetics in Mitochondrial Complex I Homeostasis	Dieteren, C.E.; Koopman, W.J.; Swarts, H.G.P.; Peters, J.G.; Maczuga, P.; Gemst, J. van; Masereeuw, R.; Smeitink, J.A.M.; Nijtmans, L.G.J.; Willems, P.H.
	2012	Trolox-sensitive reactive oxygen species regulate mitochondrial morphology, oxidative phosphorylation and cytosolic calcium handling in healthy cells	Distelmaier, F.; Valsecchi, F.; Forkink, M.; Emst-de Vries, S.E. van; Swarts, H.G.P.; Rodenburg, R.J.T.; Verwiel, E.T.P.; Smeitink, J.A.M.; Willems, P.H.G.M.; Koopman, W.J.H.
	2012	Mitochondrial DNA m.3242G > A mutation, an under diagnosed cause of hypertrophic cardiomyopathy and renal tubular dysfunction?	Wortmann, S.B.; Champion, M.P.; Heuvel, L.P. van den; Barth, H.; Trutnau, B.; Craig, K.; Lammens, M.M.; Schreuder, M.F.; Taylor, R.W.; Smeitink, J.A.M.; Wevers, R.A.; Rodenburg, R.J.T.; Morava, E.
	2012	Modeling mitochondrial dysfunctions in the brain: from mice to men.	Breuer, M.E.; Willems, P.H.G.M.; Russel, F.G.M.; Koopman, W.J.H.; Smeitink, J.A.M.
	2012	Molecular base of biochemical complex I deficiency.	Hoefs, S.J.G.; Rodenburg, R.J.T.; Smeitink, J.A.M.; Heuvel, L.P.W.J. van den
	2012	Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases.	Koene, S.; Rodenburg, R.J.T.; Knaap, M.S. van der; Willemsen, M.A.A.P.; Sperl, W.; Laugel, V.; Ostergaard, E.; Tarnopolsky, M.; Martin, M.A.; Nesbitt, V.; Fletcher, J.; Edvardson, S.; Procaccio, V.; Slama, A.; Heuvel, L.P.W.J. van den; Smeitink, J.A.M.
	2012	What is influencing the phenotype of the common homozygous polymerase-gamma mutation p.Ala467Thr?	Neeve, V.C.; Samuels, D.C.; Bindoff, L.A.; van den Bosch, B.; Van Goethem, G.; Smeets, H.; Lombes, A.; Jardel, C.; Hirano, M.; DiMauro, S.; Vries, M. de; Smeitink, J.; Smits, B.W.; de Coo, I.F.; Saft, C.; Klopstock, T.; Keiling, B.C.; Czermin, B.; Abicht, A.; Lochmuller, H.; Hudson, G.; Gorman, G.G.; Turnbull, D.M.; Taylor, R.W.; Holinski-Feder, E.; Chinnery, P.F.; Horvath, R.
	2012	Metabolic consequences of NDUFS4 gene deletion in immortalized mouse embryonic fibroblasts.	Valsecchi, F.; Monge, C.; Forkink, M.; Groof, A.J.C. de; Benard, G.; Rossignol, R.; Swarts, H.G.P.; Emst-de Vries, S.E. van; Rodenburg, R.J.T.; Calvaruso, M.A.; Nijtmans, L.G.J.; Heeman, B.; Roestenberg, P.M.H.; Wieringa, B.; Smeitink, J.A.M.; Koopman, W.J.H.; Willems, P.H.G.M.
	2012	Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness.	Wortmann, S.B.; Vaz, F.M.; Gardeitchik, T.; Vissers, L.E.L.M.; Renkema, G.H.; Schuurs-Hoeijmakers, J.H.M.; Kulik, W.; Lammens, M.M.Y.; Christin, C.; Kluijtmans, L.A.J.; Rodenburg, R.J.T.; Nijtmans, L.G.J.; Grunewald, A.; Klein, C.; Gerhold, J.M.; Kozicz, T.L.; Hasselt, P.M. van; Harakalova, M.; Kloosterman, W.; Baric, I.; Pronicka, E.; Ucar, S.K.; Naess, K.; Singhal, K.K.; Krumina, Z.; Gilissen, C.F.H.A.; Bokhoven, J.H.L.M. van; Veltman, J.A.; Smeitink, J.A.M.; Lefeber, D.J.; Spelbrink, J.N.; Wevers, R.A.; Morava, E.; Brouwer, A.P.M. de
	2012	Clinical features and heteroplasmy in blood, urine and saliva in 34 Dutch families carrying the m.3243A > G mutation	de Laat, P.; Koene, S.; Heuvel, L.P.W.J. van den; Rodenburg, R.J.T.; Janssen, M.C.H.; Smeitink, J.A.M.
	2012	A catalytic defect in mitochondrial respiratory chain complex I due to a mutation in NDUFS2 in a patient with Leigh syndrome.	Ngu, L.H.; Nijtmans, L.G.J.; Distelmaier, F.; Venselaar, H.; Emst-de Vries, S.E. van; Brand, M.A.M. van den; Stoltenborg, B.J.M.; Wintjes, L.T.; Willems, P.H.G.M.; Heuvel, L.P.W.J. van den; Smeitink, J.A.M.; Rodenburg, R.J.T.
	2011	Mitochondrial medicine.	Koene, S.; Smeitink, J.A.M.
	2011	Cell biological consequences of Leigh disease.	Distelmaier, F.; Willems, P.H.; Smeitink, J.A.; Koopman, W.J.; Mayatepek, E.
	2011	Solute diffusion is hindered in the mitochondrial matrix	Dieteren, C.E.J.; Gielen, S.C.A.M.; Nijtmans, L.G.J.; Smeitink, J.A.M.; Swarts, H.G.P.; Brock, R.; Willems, P.H.G.M.; Koopman, W.J.H.
	2011	New mitochondrial tRNA HIS mutation in a family with lactic acidosis and stroke-like episodes (MELAS)	Calvaruso, M.A.; Willemsen, M.A.; Rodenburg, R.J.T.; Brand, M. van den; Smeitink, J.A.M.; Nijtmans, L.G.J.
	2011	Mouse models for nuclear DNA-encoded mitochondrial complex I deficiency	Koene, S.; Willems, P.H.G.M.; Roestenberg, P.M.H.; Koopman, W.J.H.; Smeitink, J.A.M.
	2011	Quantitative glucose and ATP sensing in mammalian cells	Liemburg-Apers, D.C.; Imamura, H.; Forkink, M.; Nooteboom, M.; Swarts, H.G.P.; Brock, R.E.; Smeitink, J.A.M.; Willems, P.H.G.M.; Koopman, W.J.H.
	2011	Mitochondrial DNA replication and OXPHOS gene transcription show varied responsiveness to Rieske protein knockdown in 143B cells	Levanets, O.; Reinecke, F.; Louw, R.; Pretorius, P.J.; Plessis, L.H. du; Nijtmans, L.G.J.; Smeitink, J.A.M.; Westhuizen, F.H. van der
	2011	NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease	Hoefs, S.J.G.; Spronsen, F.J. van; Lenssen, E.W.H.; Nijtmans, L.G.J.; Rodenburg, R.J.T.; Smeitink, J.A.M.; van den Heuvel, L.P.
	2011	Isolated mitochondrial complex I deficiency: explorative data analysis of patient cell parameters.	Blanchet, L.M.; Buydens, M.C.; Smeitink, J.A.M.; Willems, P.H.G.M.; Koopman, W.J.H.
	2011	Restoration of complex V deficiency caused by a novel deletion in the human TMEM70 gene normalizes mitochondrial morphology	Jonckheere, A.I.; Huigsloot, M.; Lammens, M.M.Y.; Jansen, J.; Heuvel, L.P.W.J. van den; Spiekerkoetter, U.; Kleist-Retzow, J.C. von; Forkink, M.; Koopman, W.J.H.; Szklarczyk, R.J.; Huynen, M.A.; Fransen, J.; Smeitink, J.A.M.; Rodenburg, R.J.T.
	2011	Mutation in subdomain G' of mitochondrial elongation factor G1 is associated with combined OXPHOS deficiency in fibroblasts but not in muscle	Smits, P.; Antonicka, H.; Hasselt, P.M. van; Weraarpachai, W.; Haller, W.; Schreurs, M.; Venselaar, H.; Rodenburg, R.J.T.; Smeitink, J.A.M.; Heuvel, L.P.W.J. van den
	2011	Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy	Smits, P.; Saada, A.; Wortmann, S.B.; Heister, A.; Brink, M.; Pfundt, R.P.; Miller, C.; Haas, D.; Hantschmann, R.; Rodenburg, R.J.T.; Smeitink, J.A.M.; Heuvel, L.P.W.J. van den
	2011	Defective mitochondrial translation differently affects the live cell dynamics of complex I subunits	Dieteren, C.E.J.; Willems, P.H.G.M.; Swarts, H.G.P.; Fransen, J.; Smeitink, J.A.M.; Koopman, W.J.H.; Nijtmans, L.G.J.
	2011	NOA1 is an essential GTPase required for mitochondrial protein synthesis.	Kolanczyk, M.; Pech, M.; Zemojtel, T.; Yamamoto, H.; Mikula, I.; Calvaruso, M.A.; Brand, M.A.M. van den; Richter, R.; Fischer, B.; Ritz, A.; Kossler, N.; Thurisch, B.; Spoerle, R.; Smeitink, J.A.; Kornak, U.; Chan, D.; Vingron, M.; Martasek, P.; Lightowlers, R.N.; Nijtmans, L.G.; Schuelke, M.; Nierhaus, K.H.; Mundlos, S.
	2011	Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway	Kleefstra, T.; Wortmann, S.B.; Rodenburg, R.J.T.; Bongers, M.H.F.; Hadzsiev, K.; Noordam, C.; Heuvel, L.P.W.J. van den; Nillesen, W.M.; Hollody, K.; Gillessen-Kaesbach, G.; Lammens, M.M.Y.; Smeitink, J.A.M.; Burgt, C.J.A.M. van der; Morava, E.
	2011	A mutation in C2orf64 causes impaired cytochrome c oxidase assembly and mitochondrial cardiomyopathy	Huigsloot, M.; Nijtmans, L.G.J.; Szklarczyk, R.J.; Baars, M.J.; Brand, M.A.M. van den; Hendriksfranssen, M.G.; Heuvel, L.P.W.J. van den; Smeitink, J.A.M.; Huynen, M.A.; Rodenburg, R.J.T.
	2011	FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study.	Suomalainen, A.; Elo, J.M.; Pietilainen, K.H.; Hakonen, A.H.; Sevastianova, K.; Korpela, M.; Isohanni, P.; Marjavaara, S.K.; Tyni, T.; Kiuru-Enari, S.; Pihko, H.; Darin, N.; Ounap, K.; Kluijtmans, L.A.J.; Paetau, A.; Buzkova, J.; Bindoff, L.A.; Annunen-Rasila, J.; Uusimaa, J.; Rissanen, A.; Yki-Jarvinen, H.; Hirano, M.; Tulinius, M.; Smeitink, J.A.M.; Tyynismaa, H.
	2010	Metabolism, gliomas, and IDH1.	Smeitink, J.A.M.
	2010	Mitochondrial translation and beyond: processes implicated in combined oxidative phosphorylation deficiencies.	Smits, P.; Smeitink, J.A.M.; Heuvel, L.P.W.J. van den
	2010	Complex I disorders: causes, mechanisms, and development of treatment strategies at the cellular level.	Valsecchi, F.; Koopman, W.J.H.; Manjeri, G.R.; Rodenburg, R.J.T.; Smeitink, J.A.M.; Willems, P.H.G.M.
	2010	High-throughput assay to measure oxygen consumption in digitonin-permeabilized cells of patients with mitochondrial disorders.	Jonckheere, A.I.; Huigsloot, M.; Janssen, A.J.M.; Kappen, A.J.; Smeitink, J.A.M.; Rodenburg, R.J.T.
	2010	IDH2 mutations in patients with D-2-hydroxyglutaric aciduria.	Kranendijk, M.; Struys, E.A.; Schaftingen, E. van; Gibson, K.M.; Kanhai, W.A.; Knaap, M.S. van der; Amiel, J.; Buist, N.R.; Das, A.M.; Klerk, J.B. De; Feigenbaum, A.S.; Grange, D.K.; Hofstede, F.C.; Holme, E.; Kirk, E.P.; Korman, S.H.; Morava, E.; Morris, A.; Smeitink, J.A.M.; Sukhai, R.N.; Vallance, H.; Jakobs, C.; Salomons, G.S.
	2010	Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect.	Antonicka, H.; Ostergaard, E.; Sasarman, F.; Weraarpachai, W.; Wibrand, F.; Pedersen, A.M.; Rodenburg, R.J.T.; Knaap, M.S. van der; Smeitink, J.A.M.; Chrzanowska-Lightowlers, Z.M.; Shoubridge, E.A.
	2010	Detection and manipulation of mitochondrial reactive oxygen species in mammalian cells.	Forkink, M.; Smeitink, J.A.M.; Brock, R.E.; Willems, P.H.G.M.; Koopman, W.J.H.
	2010	Novel mutations in the NDUFS1 gene cause low residual activities in human complex I deficiencies.	Hoefs, S.J.G.; Skjeldal, O.H.; Rodenburg, R.J.T.; Nedregaard, B.; Kaauwen, E. van; Spiekerkotter, U.; Kleist-Retzow, J.C. von; Smeitink, J.A.M.; Nijtmans, L.G.J.; Heuvel, L.P.W.J. van den
	2010	Acyl-CoA dehydrogenase 9 is required for the biogenesis of oxidative phosphorylation complex I.	Nouws, J.; Nijtmans, L.G.J.; Houten, S.M.; Brand, M. van den; Huijnen, M.A.; Venselaar, H.; Hoefs, S.J.G.; Gloerich, J.; Kronick, J.; Hutchin, T.; Willems, P.H.G.M.; Rodenburg, R.J.T.; Wanders, R.; Heuvel, L.P.W.J. van den; Smeitink, J.A.M.; Vogel, R.O.
	2010	Functional consequences of mitochondrial tRNA Trp and tRNA Arg mutations causing combined OXPHOS defects.	Smits, P.; Mattijssen, S.; Morava, E.; Brand, M. van den; Brandt, F. van den; Wijburg, F.; Pruijn, G.J.M.; Smeitink, J.A.M.; Nijtmans, L.; Rodenburg, R.; Heuvel, L.P.W.J. van den
	2010	Functional consequences of mitochondrial tRNA Trp and tRNA Arg mutations causing combined OXPHOS defects.	Smits, P.; Mattijssen, S.; Morava, E.; Brand, M. van den; Brandt, F. van den; Wijburg, F.; Pruijn, G.J.M.; Smeitink, J.A.M.; Nijtmans, L.G.J.; Rodenburg, R.J.T.; Heuvel, L.P.W.J. van den
	2010	Mammalian mitochondrial complex I: biogenesis, regulation, and reactive oxygen species generation.	Koopman, W.J.H.; Nijtmans, L.G.J.; Dieteren, C.E.J.; Roestenberg, P.M.H.; Valsecchi, F.; Smeitink, J.A.M.; Willems, P.H.G.M.
	2010	A functional peptidyl-tRNA hydrolase, ICT1, has been recruited into the human mitochondrial ribosome.	Richter, R.; Rorbach, J.; Pajak, A.; Smith, P.M.; Wessels, H.J.; Huynen, M.A.; Smeitink, J.A.M.; Lightowlers, R.N.; Chrzanowska-Lightowlers, Z.M.
	2010	Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis.	Willemsen, M.A.A.P.; Verbeek, M.M.; Kamsteeg, E.J.; Rijk-van Andel, J.F. de; Aeby, A.; Blau, N.; Burlina, A.; Donati, M.A.; Geurtz, B.; Grattan-Smith, P.J.; Haeussler, M.; Hoffmann, G.F.; Jung, H.; Klerk, J.B. De; Knaap, M.S. van der; Kok, F.; Leuzzi, V.; Lonlay, P. de; Megarbane, A.; Monaghan, H.; Renier, W.O.; Rondot, P.; Ryan, M.M.; Seeger, J.P.H.; Smeitink, J.A.M.; Steenbergen-Spanjers, G.C.H.; Wassmer, E.; Weschke, B.; Wijburg, F.A.; Wilcken, B.; Zafeiriou, D.I.; Wevers, R.A.
	2009	Author’s reply to: anesthesia care for muscle biopsy in children with myopathies by Dr Ferrari Fabio	Driessen, J.J.; Smeitink, J.A.M.

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