J. Smeitink

J. Smeitink, J. V. van Hest, R. Brock, 2019, European journal of pharmaceutics and biopharmaceutics : official journal of Arbeitsgemeinschaft fur Pharmazeutische Verfahrenstechnik e.V.

Oxidative Phosphorylation System: Nuclear Genes and Genetic Disease

J. Smeitink, L. Nijtmans, L. Heuvel, 2007 .

A novel mitochondrial DNA m.7507A>G mutation is only pathogenic at high levels of heteroplasmy

Robert W. Taylor, R. Rodenburg, S. Wortmann, 2015, Neuromuscular Disorders.

Muscle pain, fatigue and night hypothermia in association with mitochondrial dysfunction

R. Rodenburg, J. Smeitink, E. Morava, 2009, Journal of Pediatric Neurology.

Modeling mitochondrial dysfunctions in the brain: from mice to men

J. Smeitink, F. Russel, P. Willems, 2011, Journal of Inherited Metabolic Disease.

Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 deficiency)

T. Hennet, M. Aebi, G. Matthijs, 2004, Journal of Medical Genetics.

Inactivating PAPSS2 mutations in a patient with premature pubarche.

N. Hanley, J. Smeitink, R. Smeets, 2009, The New England journal of medicine.

Delineation of molecular findings by whole-exome sequencing for suspected cases of paediatric-onset mitochondrial diseases in the Southern Chinese population

R. Rodenburg, B. Chung, J. Smeitink, 2020, Human genomics.

Restoration of complex V deficiency caused by a novel deletion in the human TMEM70 gene normalizes mitochondrial morphology.

M. Huynen, R. Rodenburg, J. Fransen, 2011, Mitochondrion.

NOA1 is an essential GTPase required for mitochondrial protein synthesis

S. Mundlos, M. Vingron, M. Schuelke, 2011, Molecular biology of the cell.

Novel mutations in the 7-dehydrocholesterol reductase gene of 13 patients with Smith--Lemli--Opitz syndrome.

R. Hennekam, H. Waterham, R. Wanders, 2001, Annals of human genetics.

The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature.

W. Hop, B. Poll-The, J. Smeitink, 2003, Pediatrics.

Aberrantly spliced mRNAs of the 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL) gene with a donor splice-site point mutation produce hereditary HL deficiency.

M. Durán, J. Pié, N. Casals, 1996, Journal of lipid research.

Problems of adults with a mitochondrial disease - the patients' perspective: focus on loss.

T. van Achterberg, Truus van der Hooft, B. V. van Engelen, 2012, JIMD reports.

Mitochondrial hyperpolarization during chronic complex I inhibition is sustained by low activity of complex II, III, IV and V.

J. Smeitink, Aleksandra Wojtala, M. Wieckowski, 2014, Biochimica et biophysica acta.

University of Birmingham Mitochondrial hyperpolarization during chronic complex I inhibition is sustained by low activity of complex II, III, IV and V

J. Smeitink, Aleksandra Wojtala, M. Wieckowski, 2014 .

Rescue from galactose-induced death of Leigh Syndrome patient cells by pyruvate and NAD+

J. Smeitink, J. Beyrath, P. Willems, 2018, Cell Death & Disease.

Ca2+-mobilizing agonists increase mitochondrial ATP production to accelerate cytosolic Ca2+ removal: aberrations in human complex I deficiency.

Dimphy Zeegers, J. Smeitink, F. V. van Kuppeveld, 2006, American journal of physiology. Cell physiology.

Defective mitochondrial translation differently affects the live cell dynamics of complex I subunits.

J. Fransen, J. Smeitink, P. Willems, 2011, Biochimica et biophysica acta.

A scale to monitor progression and treatment of mitochondrial disease in children

G. Uziel, J. Elson, J. Smeitink, 2006, Neuromuscular Disorders.

To be or not to be pink(1): contradictory findings in an animal model for Parkinson’s disease

A. Orr, J. Smeitink, F. Russel, 2019, Brain communications.

l-dopa–responsive infantile hypokinetic rigid parkinsonism due to tyrosine hydroxylase deficiency

F. Gabreëls, R. Wevers, J. Smeitink, 2000, Neurology.

Variable clinical presentation of lysosomal beta-mannosidosis in patients with null mutations.

R. Wevers, J. Smeitink, W. Kleijer, 2002, Molecular genetics and metabolism.

Exome sequencing in paediatric patients with movement disorders

M. Lek, R. Rodenburg, S. Pajusalu, 2020, Orphanet Journal of Rare Diseases.

Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis.

D. Zafeiriou, B. Weschke, A. Mégarbané, 2010, Brain : a journal of neurology.

The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders

I. Rivera, H. Prokisch, R. Rodenburg, 2015, Journal of Inherited Metabolic Disease.

Biochemical hallmarks of tyrosine hydroxylase deficiency.

F. Gabreëls, R. Wevers, J. Smeitink, 1998, Clinical chemistry.

Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene Waterham,

P. Vreken, R. Hennekam, H. Waterham, 1998 .

Multiple oxidative phosphorylation deficiencies in severe childhood multi-system disorders due to polymerase gamma (POLG1) mutations

R. Rodenburg, H. Laak, J. Smeitink, 2007, European Journal of Pediatrics.

Inhibition of Mitochondrial Na (cid:1) -Ca 2 (cid:1) Exchange Restores Agonist-induced ATP Production and Ca 2 (cid:1) Handling in Human Complex I Deficiency*

G. Rutter, J. Smeitink, L. P. Van den Heuvel, 2004 .

Clinical heterogeneity in respiratory chain complex III deficiency in childhood

F. Gabreëls, J. Smeitink, R. Sengers, 1997, Journal of the Neurological Sciences.

A novel mutation in COQ2 leading to fatal infantile multisystem disease

R. Rodenburg, R. Wevers, S. Wortmann, 2013, Journal of the Neurological Sciences.

A catalytic defect in mitochondrial respiratory chain complex I due to a mutation in NDUFS2 in a patient with Leigh syndrome.

R. Rodenburg, H. Venselaar, J. Smeitink, 2012, Biochimica et biophysica acta.

FGF21 is a biomarker for mitochondrial translation and mtDNA maintenance disorders

M. Zeviani, R. Laaksonen, J. Smeitink, 2016, Neurology.

Serum GDF 15 Levels Correlate to Mitochondrial Disease Severity and Myocardial Strain , but Not to Disease Progression in Adult m . 3243 A > G Carriers

D. Vriens, J. Timmermans, J. Smeitink, 2018 .

Serum GDF15 Levels Correlate to Mitochondrial Disease Severity and Myocardial Strain, but Not to Disease Progression in Adult m.3243A>G Carriers.

D. Vriens, J. Timmermans, J. Smeitink, 2015, JIMD reports.

cDNA of eight nuclear encoded subunits of NADH:ubiquinone oxidoreductase: human complex I cDNA characterization completed.

J. Smeitink, L. P. Van den Heuvel, J. Loeffen, 1998, Biochemical and biophysical research communications.

Human mitochondrial complex I assembly is mediated by NDUFAF1

Rutger O. Vogel, M. Zeviani, J. Smeitink, 2005, The FEBS journal.

ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism

Y. Okazaki, J. Smeitink, L. P. Van den Heuvel, 2017, Brain : a journal of neurology.

New perspectives on the assembly process of mitochondrial respiratory chain complex cytochrome c oxidase.

J. Smeitink, L. P. Van den Heuvel, L. Nijtmans, 2002, Mitochondrion.

Mutation detection in four candidate genes (OXA1L, MRS2L, YME1L and MIPEP) for combined deficiencies in the oxidative phosphorylation system

J. Smeitink, R. Smeets, F. Trijbels, 2005, Journal of Inherited Metabolic Disease.

Human NADH:Ubiquinone Oxidoreductase

J. Smeitink, R. Sengers, F. Trijbels, 2001, Journal of bioenergetics and biomembranes.

Role of Common Gene Variations in the Molecular Pathogenesis of Short-Chain Acyl-CoA Dehydrogenase Deficiency

J. Vockley, D. Babovic‐Vuksanovic, A. Sewell, 2001, Pediatric Research.

Spectrophotometric assay for complex I of the respiratory chain in tissue samples and cultured fibroblasts.

R. Rodenburg, J. Smeitink, L. P. Van den Heuvel, 2007, Clinical chemistry.

Serum FGF21 levels in adult m.3243A>G carriers

D. Vriens, R. Rodenburg, J. Smeitink, 2014, Neurology.

Phenylketonuria in The Netherlands: 93% of the mutations are detected by single-strand conformation analysis.

J. Giltay, B. Poll-The, J. Smeitink, 1996, Human heredity.

Tyrosine hydroxylase deficiency with severe clinical course: clinical and biochemical investigations and optimization of therapy.

R. Wevers, J. Smeitink, G. Hoffmann, 2000, The Journal of pediatrics.

X‐linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy

R. Rodenburg, J. Smeitink, J. Arenas, 2007, Annals of neurology.

Smith-Lemli-Opitz Syndrome and the DHCR 7 Gene

H. Waterham, R. Wevers, R. Wanders, 2003 .

Sequence Analysis of the Structural Nuclear Encoded Subunits and Assembly Genes of Cytochrome c Oxidase in a Cohort of 10 Isolated Complex IV—Deficient Patients Revealed Five Mutations

J. Smeitink, L. P. Van den Heuvel, F. Trijbels, 2006, Journal of child neurology.

Cytochrome c Oxidase Biogenesis in a Patient with a Mutation in COX 10 Gene

J. Smeitink, L. Nijtmans, C. Ugalde, 2004 .

Developing outcome measures for pediatric mitochondrial disorders: which complaints and limitations are most burdensome to patients and their parents?

S. Wortmann, J. Smeitink, E. Morava, 2013, Mitochondrion (Amsterdam. Print).

Contiguous gene deletion of ELOVL7, ERCC8 and NDUFAF2 in a patient with a fatal multisystem disorder.

R. Rodenburg, J. Smeitink, L. P. Van den Heuvel, 2009, Human molecular genetics.

‘Splitting versus lumping’: Temple–Baraitser and Zimmermann–Laband Syndromes

R. Pfundt, T. Strom, D. Wieczorek, 2015, Human Genetics.

High FGF‐21 level in a cohort of 22 patients with Dravet Syndrome—Possible relationship with the disease outcomes

V. Wong, J. Smeitink, C. Fung, 2021, Epilepsia open.

Mitochondrial dysfunction in Brooks–Wisniewski–Brown syndrome

S. Seneca, L. de Meirleir, R. Rodenburg, 2006, American journal of medical genetics. Part A.

Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome.

M. Baumgartner, T. Wieland, T. Meitinger, 2012, American journal of human genetics.

Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk.

W. Hop, W. Arts, J. Smeitink, 2004, Pediatrics.

Electrophoresis techniques to investigate defects in oxidative phosphorylation.

J. Smeitink, L. Nijtmans, M. Calvaruso, 2008, Methods.

Some practical aspects of providing a diagnostic service for respiratory chain defects

L. V. D. Heuvel, J. Smeitink, L. P. Van den Heuvel, 2003, Annals of clinical biochemistry.

A fatal case of COQ7‐associated primary coenzyme Q10 deficiency

R. Rodenburg, B. Chung, J. Smeitink, 2019, JIMD reports.

A fatal case of COQ 7-associated primary coenzyme Q 10 deficiency

R. Rodenburg, B. Chung, J. Smeitink, 2019 .

Mitochondrial DNA m.3242G > A mutation, an under diagnosed cause of hypertrophic cardiomyopathy and renal tubular dysfunction?

Robert W. Taylor, R. Rodenburg, R. Wevers, 2012, European journal of medical genetics.

Human Complex I Defects Can Be Resolved by Monoclonal Antibody Analysis into Distinct Subunit Assembly Patterns*

B. J. Hanson, J. Smeitink, L. P. Van den Heuvel, 2001, The Journal of Biological Chemistry.

Novel mutations in the 7‐dehydrocholesterol reductase gene of 13 patients with Smith–Lemli–Opitz syndrome

R. Hennekam, H. Waterham, R. Wanders, 2001 .

Simvastatin: a new therapeutic approach for Smith-Lemli-Opitz syndrome

R. Wevers, J. Smeitink, R. Sengers, 2000 .

Het Smith-Lemli-Opitz syndroom: een stoornis in de cholesterol biosynthese

R. Hennekam, R. Wevers, R. Wanders, 1997 .

Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases

M. Tarnopolsky, R. Rodenburg, M. Knaap, 2012, Journal of Inherited Metabolic Disease.

Psychological functioning in children suspected for mitochondrial disease: the need for care

J. Smeitink, J. Custers, C. Verhaak, 2020, Orphanet Journal of Rare Diseases.

MtDNA mutagenesis impairs elimination of mitochondria during erythroid maturation leading to enhanced erythrocyte destruction

J. Smeitink, C. De Felice, A. Suomalainen, 2015, Nature Communications.

Dysphagia, malnutrition and gastrointestinal problems in patients with mitochondrial disease caused by the m3243A>G mutation.

J. Smeitink, S. Knuijt, M. Janssen, 2015, The Netherlands journal of medicine.

Infantile presentation of the mtDNA A3243G tRNA(Leu (UUR)) mutation.

E. Mariman, J. Smeitink, L. P. Van den Heuvel, 2001, Neuropediatrics.

Mutations in COA6 cause Cytochrome c Oxidase Deficiency and Neonatal Hypertrophic Cardiomyopathy

R. Rodenburg, J. Smeitink, E. Mayatepek, 2015, Human mutation.

Enzyme therapy for pompe disease with recombinant human alpha-glucosidase from rabbit milk.

J. Smeitink, A. Reuser, A. T. van der Ploeg, 2001, Journal of inherited metabolic disease.

Human Mitochondrial Transmembrane Metabolite Carriers: Tissue Distribution and Its Implication for Mitochondrial Disorders

M. Huizing, J. Smeitink, L. P. Van den Heuvel, 1998, Journal of bioenergetics and biomembranes.

Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih ( CDG-Ih ) ( ALG 8 deficiency )

T. Hennet, M. Aebi, G. Matthijs, 2004 .

Metabolism, gliomas, and IDH1.

J. Smeitink, 2010, The New England journal of medicine.

Neuroimaging of peroxisome biogenesis disorders (Zellweger spectrum) with prolonged survival

H. Waterham, C. Majoie, B. Poll-The, 2004, Neurology.

Obstetric complications in carriers of the m.3243A>G mutation, a retrospective cohort study on maternal and fetal outcome.

J. Smeitink, M. Janssen, M. Bekker, 2015, Mitochondrion.

Eyes on MEGDEL: Distinctive Basal Ganglia Involvement in Dystonia Deafness Syndrome

L. de Meirleir, R. Wevers, S. Wortmann, 2015, Neuropediatrics.

Magnetic Resonance Imaging and Spectroscopy of the Brain in Propionic Acidemia: Clinical and Biochemical Considerations

J. Valk, M. Durán, M. Knaap, 1996, Pediatric Research.

Prenatal Diagnostics in Oxidative Phosphorylation Disorders

J. Smeitink, R. Sengers, L. Heuvel, 2004 .

Prenatal diagnosis of NADH:ubiquinone oxidoreductase deficiency

J. Smeitink, L. P. Van den Heuvel, R. Sengers, 2001, Prenatal diagnosis.

J. Smeitink, J. Driessen, J. Giele, 2007, Paediatric anaesthesia.

NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease

R. Rodenburg, J. Smeitink, L. Nijtmans, 2011, European Journal of Human Genetics.

OXPHOS mutations and neurodegeneration

J. Smeitink, P. Willems, W. Koopman, 2012, The EMBO journal.

Gait analysis in a mouse model resembling Leigh disease

J. Smeitink, F. Russel, R. D. Haas, 2016, Behavioural Brain Research.

Increased mitochondrial ATP production capacity in brain of healthy mice and a mouse model of isolated complex I deficiency after isoflurane anesthesia

R. Rodenburg, L. Blanchet, J. Smeitink, 2015, Journal of Inherited Metabolic Disease.

Cellular and animal models for mitochondrial complex I deficiency: A focus on the NDUFS4 subunit

J. Smeitink, P. Willems, W. Koopman, 2013, IUBMB life.

The mitochondrial 13513G>A mutation is most frequent in Leigh syndrome combined with reduced complex I activity, optic atrophy and/or Wolff–Parkinson–White

R. Rodenburg, B. Engelen, J. Smeitink, 2007, European Journal of Human Genetics.

Photo-Induction and Automated Quantification of Reversible Mitochondrial Permeability Transition Pore Opening in Primary Mouse Myotubes

L. Blanchet, J. Smeitink, P. Willems, 2014, PloS one.

Stoornissen in de oxidatieve fosforylering: kliniek, diagnostiek en research

R. Rodenburg, H. Laak, J. Smeitink, 2006 .

Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency

P. Vreken, M. Durán, E. Holme, 1999, Human Genetics.

Mutation in subdomain G' of mitochondrial elongation factor G1 is associated with combined OXPHOS deficiency in fibroblasts but not in muscle

H. Antonicka, R. Rodenburg, Woranontee Weraarpachai, 2011, European Journal of Human Genetics.

Subunit-specific Incorporation Efficiency and Kinetics in Mitochondrial Complex I Homeostasis*

J. Smeitink, P. Willems, C. Dieteren, 2012, The Journal of Biological Chemistry.

Mitochondrial dysfunction in Stüve–Wiedemann syndrome in a patient carrying an ND1 gene mutation

R. Rodenburg, B. Hamel, J. Smeitink, 2006, American journal of medical genetics. Part A.

Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese

Y. Chien, W. Hwu, R. Rodenburg, 2019, npj Genomic Medicine.

Identifying trajectories of fatigue in patients with primary mitochondrial disease due to the m.3243A > G variant

J. Smeitink, J. Custers, C. Verhaak, 2022, Journal of inherited metabolic disease.

Optimized spectrophotometric assay for the completely activated pyruvate dehydrogenase complex in fibroblasts.

J. Smeitink, L. P. Van den Heuvel, D. Rating, 2005, Clinical chemistry.

Glycogen storage disease type II: Genetic and biochemical analysis of novel mutations in infantile patients from Turkish ancestry

J. Smeitink, A. Reuser, M. Kroos, 1998, Human mutation.

NDUFS4 deletion triggers loss of NDUFA12 in Ndufs4-/- mice and Leigh syndrome patients: A stabilizing role for NDUFAF2.

R. Rodenburg, J. Smeitink, Aleksandra Wojtala, 2020, Biochimica et biophysica acta. Bioenergetics.

Isoflurane anesthetic hypersensitivity and progressive respiratory depression in a mouse model with isolated mitochondrial complex I deficiency

J. Smeitink, G. Scheffer, P. Willems, 2014, Journal of Anesthesia.

Mitochondrial Oxidative Phosphorylation Disorders

R. Rodenburg, J. Smeitink, P. Laat, 2014 .

Mitochondrial disease: Needs and problems of children, their parents and family. A systematic review and pilot study into the need for information of parents during the diagnostic phase

T. van Achterberg, J. Smeitink, L. Schoonhoven, 2007, Journal of Inherited Metabolic Disease.

Normal Serum Alanine Concentration Differentiates Transient Neonatal Lactic Acidemia from an Inborn Error of Energy Metabolism

J. Smeitink, E. Morava, W. D. de Boode, 2006, Neonatology.

Decreased agonist-stimulated mitochondrial ATP production caused by a pathological reduction in endoplasmic reticulum calcium content in human complex I deficiency.

A. Leusink, J. Smeitink, P. Willems, 2006, Biochimica et biophysica acta.

Mitochondrial disorders: Clinical presentation and diagnostic dilemmas

J. Smeitink, J. Smeitink, J. Smeitink, 2003, Journal of Inherited Metabolic Disease.

The human complex I NDUFS4 subunit: from gene structure to function and pathology.

J. Smeitink, L. P. Van den Heuvel, S. Budde, 2002, Mitochondrion.

Mutation in the NDUFS4 gene of complex I abolishes cAMP‐dependent activation of the complex in a child with fatal neurological syndrome

J. Smeitink, L. P. Van den Heuvel, S. Papa, 2001, FEBS letters.

Hypothesis: mPGES-1-Derived Prostaglandin E2, a So Far Missing Link in COVID-19 Pathophysiology?

J. Smeitink, J. Beyrath, Xiaolan Jiang, 2020 .

Normal biochemical analysis of the oxidative phosphorylation (OXPHOS) system in a child with POLG mutations: A cautionary note

R. Rodenburg, J. Smeitink, M. Vries, 2008, Journal of Inherited Metabolic Disease.

A guide to diagnosis and treatment of Leigh syndrome

R. Rodenburg, J. Smeitink, E. Mayatepek, 2013, Journal of Neurology, Neurosurgery & Psychiatry.

Mitochondrial Energy Production Correlates With the Age-Related BMI

R. Rodenburg, S. Wortmann, J. Smeitink, 2009, Pediatric Research.

New pattern of brain MRI lesions in isolated complex I deficiency.

I. Harting, J. Smeitink, L. P. Van den Heuvel, 2003, Neuropediatrics.

Enhanced number and activity of mitochondria in multiple sclerosis lesions

J. Geurts, R. Rodenburg, J. Smeitink, 2009, The Journal of pathology.

Succinate in dystrophic white matter: A proton magnetic resonance spectroscopy finding characteristic for complex II deficiency

Jens Frahm, Peter Dechent, P. Dechent, 2002, Annals of neurology.

Mitochondrial complex III stabilizes complex I in the absence of NDUFS4 to provide partial activity.

R. Palmiter, J. Smeitink, P. Willems, 2012, Human molecular genetics.

Clinical heterogeneity in patients with mutations in the NDUFS4 gene of mitochondrial complex I

V. Petruzzella, J. Smeitink, L. P. Van den Heuvel, 2003, Journal of Inherited Metabolic Disease.

Clinical features and heteroplasmy in blood, urine and saliva in 34 Dutch families carrying the m.3243A > G mutation

R. Rodenburg, J. Smeitink, L. P. Van den Heuvel, 2012, Journal of Inherited Metabolic Disease.

Resting muscle pain as the first clinical symptom in children carrying the MTTK A8344G mutation.

R. Rodenburg, J. Smeitink, E. Morava, 2007, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Whole exome sequencing of suspected mitochondrial patients in clinical practice

Richard J. Rodenburg, R. Rodenburg, S. Wortmann, 2015, Journal of Inherited Metabolic Disease.

Mining for mitochondrial mechanisms: Linking known syndromes to mitochondrial function

R. Rodenburg, J. Smeitink, D. Panneman, 2018, Clinical genetics.

Diagnosis of mitochondrial disorders: Clinical and biochemical approach

J. Smeitink, D. Thorburn, 2001, Journal of Inherited Metabolic Disease.

A second common mutation in the methylenetetrahydrofolate reductase gene: an additional risk factor for neural-tube defects?

F. Gabreëls, H. Blom, N. Put, 1998, American journal of human genetics.

Mitochondrial toxicity induced by nucleoside-analogue reverse-transcriptase inhibitors is a key factor in the pathogenesis of antiretroviral-therapy-related lipodystrophy

P. Reiss, J. Romijn, J. Smeitink, 1999, The Lancet.

Adverse effects of reverse transcriptase inhibitors: mitochondrial toxicity as common pathway

J. Smeitink, D. Burger, K. Brinkman, 1998, AIDS.

Carnitine–acylcarnitine carrier deficiency: Identification of the molecular defect in a patient

R. Wanders, M. Huizing, R. Wanders, 1998, Journal of Inherited Metabolic Disease.

Selective screening for inborn errors of metabolism: the primary care-based model in rural Crete

R. Wevers, A. Sewell, J. Smeitink, 2001, Journal of Inherited Metabolic Disease.

Cerebrospinal fluid organic acids in biotinidase deficiency

T. Suormala, E. R. Baumgartner, M. Durán, 1993, Journal of Inherited Metabolic Disease.

dehydrogenase deficiency Retinal dystrophy in long chain 3-hydroxy-acyl-coA

J. Smeitink, G. V. Lith, J. D. Jager, 2006 .

Retinal dystrophy in long chain 3-hydroxy-acyl-coA dehydrogenase deficiency

J. Smeitink, G. V. van Rens, D. Wittebol-Post, 1997, The British journal of ophthalmology.

Peroxisomal Disorders : A Review

B. Poll-The, J. Smeitink, L. Dorland, 2004 .

An international classification of inherited metabolic disorders (ICIMD)

Robert W. Taylor, A. Ballabio, E. Bertini, 2020, Journal of inherited metabolic disease.

Adenine nucleotide translocator 1 deficiency associated with Sengers syndrome

G. Sigfússon, M. Huizing, A. Dörner, 2002, Annals of neurology.

Spinal muscular atrophy-like picture, cardiomyopathy, and cytochrome c oxidase deficiency

E. Mariman, F. Gabreëls, H. Laak, 1999, Neurology.

Assembly factors as a new class of disease genes for mitochondrial complex I deficiency: cause, pathology and treatment options.

Rutger O. Vogel, J. Smeitink, L. Nijtmans, 2012, Brain : a journal of neurology.

Human mitochondrial complex I assembly: a dynamic and versatile process.

Rutger O. Vogel, J. Smeitink, L. Nijtmans, 2007, Biochimica et biophysica acta.

Mitochondrial and cytosolic thiol redox state are not detectably altered in isolated human NADH:ubiquinone oxidoreductase deficiency.

J. Smeitink, P. Willems, S. Verkaart, 2007, Biochimica et biophysica acta.

Human NADH:ubiquinone oxidoreductase deficiency: radical changes in mitochondrial morphology?

J. Smeitink, P. Willems, S. Verkaart, 2007, American journal of physiology. Cell physiology.

The human nuclear-encoded acyl carrier subunit (NDUFAB1) of the mitochondrial complex I in human pathology

L. V. D. Heuvel, J. Smeitink, J. Loeffen, 1999, Journal of Inherited Metabolic Disease.

Mitochondrial Ca2+ homeostasis in human NADH:ubiquinone oxidoreductase deficiency.

J. Smeitink, P. Willems, S. Verkaart, 2008, Cell calcium.

Overexpression of Akt converts radial growth melanoma to vertical growth melanoma.

R. Rodenburg, J. Arbiser, L. Oberley, 2007, The Journal of clinical investigation.

[Prune-belly syndrome: experiences with 9 patients].

J. Smeitink, J. D. de Vries, L. Monnens, 1987, Nederlands tijdschrift voor geneeskunde.

Abnormal glutathione conjugation in patients with tyrosinaemia type I

M. Durán, G. Mulder, J. Smeitink, 1997, Journal of Inherited Metabolic Disease.

Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease.

Rutger O. Vogel, M. Huynen, H. Venselaar, 2009, American journal of human genetics.

Identificationn of the molecular defect in patients with peroxisomal mosaicismm using a novel method involving culturing of cells at 40 ° C : implicationss for other inborn errors of metabolism

H. Waterham, R. Wanders, J. Smeitink, 2017 .

Identificatio nn of the molecular defect in patients with peroxisomal mosaicismm using a novel method involving culturin g of cells at 40 ° C : implicationss for other inborn errors of metabolism

H. Waterham, R. Wanders, J. Smeitink, 2007 .

Identification of the molecular defect in patients with peroxisomal mosaicism using a novel method involving culturing of cells at 40°C: Implications for other inborn errors of metabolism

H. Waterham, H. Mandel, R. Wanders, 2004, Human mutation.

Peroxisome mosaicism in the livers of peroxisomal deficiency patients

H. Mandel, R. Wanders, B. Poll-The, 1995, Hepatology.

Cell and tissue heterogeneity in peroxisomal patients

T. Hashimoto, R. Wanders, H. Mandel, 1995 .

Non-rhizomelic and rhizomelic chondrodysplasia punctata within a single complementation group.

H. Tabak, R. Wanders, B. Poll-The, 1996, Biochimica et biophysica acta.

Bone dysplasia associated with phytanic acid accumulation and deficient plasmalogen synthesis: A peroxisomal entity amenable to plasmapheresis

R. Wanders, M. Durán, R. Schutgens, 1992, Journal of Inherited Metabolic Disease.

Immunolocalization of a 43 kDa peroxisomal membrane protein in the liver of patients with generalized peroxisomal disorders.

H. Mandel, B. Poll-The, J. Smeitink, 1995, European journal of cell biology.

Cytoplasmic catalase and ghostlike peroxisomes in the liver from a child with atypical chondrodysplasia punctata.

T. Hashimoto, R. Wanders, B. Poll-The, 1993, Ultrastructural pathology.

Mechanism of action and potential applications of selective inhibition of microsomal prostaglandin E synthase-1-mediated PGE2 biosynthesis by sonlicromanol’s metabolite KH176m

T. Hankemeier, J. Smeitink, J. Beyrath, 2021, Scientific Reports.

Mammalian mitochondrial complex I: biogenesis, regulation, and reactive oxygen species generation.

Cindy E J Dieteren, Werner J H Koopman, J. Smeitink, 2010, Antioxidants & redox signaling.

Enzyme therapy for Pompe disease with recombinant human α-glucosidase from rabbit milk

J. Smeitink, A. Reuser, A. T. van der Ploeg, 2001, Journal of Inherited Metabolic Disease.

Septo‐optic dysplasia associated with a new mitochondrial cytochrome b mutation

M. Schuelke, H. Krude, J. Smeitink, 2002, Annals of neurology.

FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study

A. Paetau, A. Rissanen, L. Kluijtmans, 2011, The Lancet Neurology.

Mitochondrial Energy Metabolism

J. Smeitink, R. Sengers, F. Trijbels, 2003 .

International Workshop: Outcome measures and clinical trial readiness in primary mitochondrial myopathies in children and adults. Consensus recommendations. 16–18 November 2016, Rome, Italy

M. Zeviani, H. Prokisch, M. Mancuso, 2017, Neuromuscular Disorders.

Monogenic mitochondrial disorders.

Werner J H Koopman, J. Smeitink, P. Willems, 2012, The New England journal of medicine.

Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTs.

E. Shoubridge, G. Vriend, H. Antonicka, 2006, American journal of human genetics.

Asymptomatic and late-onset ornithine transcarbamylase deficiency caused by a A208T mutation: clinical, biochemical and DNA analyses in a four-generation family.

M. Durán, E. Bakker, B. Poll-The, 1997, American journal of medical genetics.

Homozygous deletion of exon 18 leads to degradation of the lysosomal α‐glucosidase precursor and to the infantile form of glycogen storage disease type II

J. Smeitink, A. Reuser, M. Ausems, 1996, Clinical genetics.

A complex V ATP5A1 defect causes fatal neonatal mitochondrial encephalopathy.

A. Hoischen, M. Huynen, S. Nabuurs, 2013, Brain : a journal of neurology.

A mutation in C2orf64 causes impaired cytochrome c oxidase assembly and mitochondrial cardiomyopathy.

M. Huynen, R. Rodenburg, M. Huigsloot, 2011, American journal of human genetics.

A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia.

Christian Gilissen, Johannes Zschocke, Radek Szklarczyk, 2013, Human molecular genetics.

Mitochondria and Mitochondrial Disorders

J. Smeitink, E. Morava, 2005 .

Peripheral blood lymphocyte appearance in a case of I cell disease.

J. Smeitink, B. Jakobs, M. H. de Keijzer, 2001, Journal of clinical pathology.

Leigh syndrome associated with mitochondrial complex I deficiency due to novel mutations In NDUFV1 and NDUFS2.

M. Tarnopolsky, R. Rodenburg, J. Smeitink, 2013, Gene.

Inhibition of complex I of the electron transport chain causes O2-. -mediated mitochondrial outgrowth.

F. H. van der Westhuizen, J. Smeitink, M. Murphy, 2005, American journal of physiology. Cell physiology.

Genetic defects in the oxidative phosphorylation (OXPHOS) system

J. Smeitink, L. P. Van den Heuvel, R. Janssen, 2004, Expert review of molecular diagnostics.

Function and dysfunction of the oxidative phosphorylation system

J. Smeitink, L. Nijtmans, C. Ugalde, 2004 .

Nuclear DNA and Oxidative Phosphorylation

J. Smeitink, L. Heuvel, 2004 .

NDUFA9 point mutations cause a variable mitochondrial complex I assembly defect

I. D. de Coo, R. Rodenburg, V. Wong, 2018, Clinical genetics.

IDH2 Mutations in Patients with d-2-Hydroxyglutaric Aciduria

E. Holme, E. Schaftingen, J. Smeitink, 2010, Science.

Mitochondrial Migraine: Disentangling the angiopathy paradigm in m.3243A>G patients

D. Turnbull, C. Saris, J. Smeitink, 2019, JIMD reports.

Variants in NGLY1 lead to intellectual disability, myoclonus epilepsy, sensorimotor axonal polyneuropathy and mitochondrial dysfunction

R. Rodenburg, S. Wortmann, B. Küsters, 2020, Clinical genetics.

An N-terminal formyl methionine on COX 1 is required for the assembly of cytochrome c oxidase.

E. Shoubridge, H. Antonicka, F. Sasarman, 2015, Human molecular genetics.

Molecular base of biochemical complex I deficiency.

R. Rodenburg, J. Smeitink, L. P. Van den Heuvel, 2012, Mitochondrion.

Novel mutations in the NDUFS1 gene cause low residual activities in human complex I deficiencies.

R. Rodenburg, J. Smeitink, L. P. Van den Heuvel, 2010, Molecular genetics and metabolism.

Mitochondrial complex I: Structure, function and pathology

J. Smeitink, L. Nijtmans, R. Janssen, 2006, Journal of Inherited Metabolic Disease.

Complex I assembly: a puzzling problem

Rutger O. Vogel, J. Smeitink, L. P. Van den Heuvel, 2004, Current opinion in neurology.

Cell biological consequences of mitochondrial NADH: ubiquinone oxidoreductase deficiency.

J. Smeitink, L. P. Van den Heuvel, P. Willems, 2004, Current neurovascular research.

Cloning of the human mitochondrial 51 kDa subunit (NDUFV1) reveals a 100% antisense homology of its 3'UTR with the 5'UTR of the gamma-interferon inducible protein (IP-30) precursor: is this a link between mitochondrial myopathy and inflammation?

E. Mariman, J. Smeitink, L. P. Van den Heuvel, 1998, Biochemical and biophysical research communications.

Mitochondrial ATP synthase: architecture, function and pathology

R. Rodenburg, J. Smeitink, A. Jonckheere, 2011, Journal of Inherited Metabolic Disease.

Human mitochondrial complex I assembles through the combination of evolutionary conserved modules: a framework to interpret complex I deficiencies.

Rutger O. Vogel, J. Smeitink, R. Huijbens, 2004, Human molecular genetics.

Characterization of the human porin isoform 1 (HVDAC1) gene by amplification on the whole human genome: A tool for porin deficiency analysis.

A. Messina, V. De Pinto, J. Smeitink, 2000, Biochemical and biophysical research communications.

CEP89 is required for mitochondrial metabolism and neuronal function in man and fly.

B. V. van Bon, N. de Leeuw, B. D. de Vries, 2013, Human molecular genetics.

Bromodomain Inhibitors Correct Bioenergetic Deficiency Caused by Mitochondrial Disease Complex I Mutations.

Rutger O. Vogel, P. Puigserver, S. Gygi, 2016, Molecular cell.

Isolated deficiencies of OXPHOS complexes I and IV are identified accurately and quickly by simple enzyme activity immunocapture assays.

R. Rodenburg, J. Willis, M. Huigsloot, 2009, Biochimica et biophysica acta.

Clonal expansion of mutated mitochondrial DNA is associated with tumor formation and complex I deficiency in the benign renal oncocytoma.

E. Bonora, M. Colombel, V. Lazar, 2008, Human molecular genetics.

Primary fibroblasts of NDUFS4(-/-) mice display increased ROS levels and aberrant mitochondrial morphology.

J. Smeitink, P. Willems, W. Koopman, 2013, Mitochondrion.

Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency.

E. Shoubridge, H. Antonicka, R. Rossi, 2004, The New England journal of medicine.

Biochemical examination of fibroblasts in the diagnosis and research of oxidative phosphorylation (OXPHOS) defects.

R. Rodenburg, J. Smeitink, L. P. Van den Heuvel, 2004, Mitochondrion.

Mitochondrial function and morphology are impaired in parkin‐mutant fibroblasts

N. Wood, J. Smeitink, H. Mortiboys, 2008, Annals of neurology.

Mitochondrial Translation and Beyond: Processes Implicated in Combined Oxidative Phosphorylation Deficiencies

J. Smeitink, L. P. Van den Heuvel, P. Smits, 2010, Journal of biomedicine & biotechnology.

Functional consequences of mitochondrial tRNATrp and tRNAArg mutations causing combined OXPHOS defects

G. Pruijn, R. Rodenburg, J. Smeitink, 2010, European Journal of Human Genetics.

Bcl-2 prevents loss of mitochondria in CCCP-induced apoptosis.

R. D. De Abreu, J. Smeitink, L. P. Van den Heuvel, 2004, Experimental cell research.

Application of a Ketogenic Diet in Children With Autistic Behavior: Pilot Study

J. Smeitink, I. Vlachonikolis, M. Spilioti, 2003, Journal of child neurology.

Leigh syndrome due to compound heterozygosity of dihydrolipoamide dehydrogenase gene mutations. Description of the first E3 splice site mutation

H. Goebel, J. Smeitink, L. P. Van den Heuvel, 2003, European Journal of Pediatrics.

Mitochondrial tRNA genes are hotspots for mutations in a cohort of patients with exercise intolerance and mitochondrial myopathy

Dan-hua Zhao, Zhaoxia Wang, Jing Liu, 2017, Journal of the Neurological Sciences.

Pain: a prevalent feature in patients with mucopolysaccharidosis. Results of a cross-sectional national survey

C. Hollak, J. Smeitink, D. Güngör, 2015, Journal of Inherited Metabolic Disease.

Mitochondrial disorders: A proposal for consensus diagnostic criteria in infants and children

J. Smeitink, N. Wolf, 2002 .

Disorders of Mitochondrial Homeostasis, Dynamics, Protein Import, and Quality Control

J. Smeitink, W. Koopman, M. D. De Vries, 2022, Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases.

‘Splitting versus lumping’: Temple–Baraitser and Zimmermann–Laband Syndromes

R. Pfundt, T. Strom, D. Wieczorek, 2015, Human Genetics.

Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy

Saskia B Wortmann, Rolph Pfundt, R. Pfundt, 2011, European Journal of Human Genetics.

Reconstructing the evolution of the mitochondrial ribosomal proteome

Martijn A. Huynen, Thijs J. G. Ettema, M. Huynen, 2007, Nucleic acids research.

ATAD 3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism

Y. Okazaki, J. Smeitink, S. Heales, 2017 .

Fatal neonatal cardiomyopathy associated with cataract and mitochondrial myopathy

J. Smeitink, R. Sengers, W. Ruitenbeek, 1989, European Journal of Pediatrics.

Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway

Saskia B Wortmann, Eva Morava, Martin Lammens, 2011, European Journal of Human Genetics.

Characterization of the human complex I NDUFB7 and 17.2-kDa cDNAs and mutational analysis of 19 genes of the HP fraction in complex I-deficient-patients

J. Smeitink, L. P. Van den Heuvel, J. Loeffen, 2000, Human Genetics.

Detection and manipulation of mitochondrial reactive oxygen species in mammalian cells.

J. Smeitink, R. Brock, P. Willems, 2010, Biochimica et biophysica acta.

Human d‐lactate dehydrogenase deficiency by LDHD mutation in a patient with neurological manifestations and mitochondrial complex IV deficiency

R. Rodenburg, J. Smeitink, G. C. Chan, 2021, JIMD reports.

Natural history, outcome measures and trial readiness in LAMA2-related muscular dystrophy and SELENON-related myopathy in children and adults: protocol of the LAST STRONG study

N. van Alfen, H. Smeets, B. V. van Engelen, 2021, BMC Neurology.

PROTEIN BIOSYNTHESIS ’99 Human Mitochondrial Complex I in Health and Disease

J. Smeitink, L. Heuvel, 1999 .

The first nuclear-encoded complex I mutation in a patient with Leigh syndrome.

B. Hamel, J. Smeitink, L. P. Van den Heuvel, 1998, American journal of human genetics.

Nuclear genes of human complex I of the mitochondrial electron transport chain: state of the art.

J. Smeitink, L. P. Van den Heuvel, J. Loeffen, 1998, Human molecular genetics.

Cytosolic signaling protein Ecsit also localizes to mitochondria where it interacts with chaperone NDUFAF1 and functions in complex I assembly.

Rutger O. Vogel, J. Smeitink, L. P. Van den Heuvel, 2007, Genes & development.

The human NADH:ubiquinone oxidoreductase NDUFS5 (15kDa) subunit: cDNA cloning, chromosomal localization, tissue distribution and the absence of mutations in isolated complex I-deficient patients

J. Smeitink, L. P. Van den Heuvel, J. Loeffen, 1999, Journal of Inherited Metabolic Disease.

Sequence variants in four candidate genes (NIPSNAP1, GBAS, CHCHD1 and METT11D1) in patients with combined oxidative phosphorylation system deficiencies

R. Rodenburg, L. V. D. Heuvel, J. Smeitink, 2010, Journal of Inherited Metabolic Disease.

Disorders of Mitochondrial Carriers

J. Smeitink, F. Russel, T. Schirris, 2022, Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases.

New approaches to diagnosing mitochondrial abnormalities: Taking the next step

R. Rodenburg, J. Smeitink, L. van den Heuvel, 2012, Journal of Pediatric Biochemistry.

Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation

R. Schiffmann, I. Krägeloh-Mann, C. Florentz, 2007, Nature Genetics.

Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder

Pedro Rebelo-Guiomar, M. Minczuk, G. Pruijn, 2018, Nature Communications.

The genotypic and phenotypic spectrum of MTO1 deficiency

Robert W. Taylor, C. Ross, W. Wasserman, 2018, Molecular genetics and metabolism.

Statins Affect Skeletal Muscle Performance: Evidence for Disturbances in Energy Metabolism

P. Thompson, R. Rodenburg, J. Smeitink, 2018, The Journal of clinical endocrinology and metabolism.

New nuclear encoded mitochondrial mutation illustrates pitfalls in prenatal diagnosis by biochemical methods.

M. Schuelke, A. Smits, J. Smeitink, 2002, Clinical chemistry.

X-linked liver phosphorylase kinase deficiency is associated with mutations in the human liver phosphorylase kinase alpha subunit.

B. Poll-The, J. Smeitink, H. K. V. van Amstel, 1995, American journal of human genetics.

Cognitive functioning and mental health in mitochondrial disease: A systematic scoping review

C. V. van Karnebeek, J. Smeitink, J. Custers, 2021, Neuroscience & Biobehavioral Reviews.

A Drosophila Mitochondrial Complex I Deficiency Phenotype Array

R. Rodenburg, J. Smeitink, J. Beyrath, 2019, Front. Genet..

Radboud Centre for Mitochondrial Medicine Pediatric MRI score.

J. Smeitink, B. Goraj, C. Fung, 2017, Mitochondrion.

New treatments for mitochondrial disease—no time to drop our standards

V. Mootha, D. Turnbull, M. Zeviani, 2013, Nature Reviews Neurology.

Nephrotoxicity associated with ifosfamide

J. Smeitink, R. Lippens, C. Schröder, 1988, European Journal of Pediatrics.

Mitochondrial DNA background modulates the assembly kinetics of OXPHOS complexes in a cellular model of mitochondrial disease.

Eduardo Ruiz-Pesini, Cristina Ugalde, Jan A Smeitink, 2008, Human molecular genetics.

Phytanic acid impairs mitochondrial respiration through protonophoric action

R. Wanders, J. Smeitink, P. Willems, 2007, Cellular and Molecular Life Sciences.

Acyl-CoA dehydrogenase 9 is required for the biogenesis of oxidative phosphorylation complex I.

Rutger O. Vogel, M. Huynen, R. Rodenburg, 2010, Cell metabolism.

Mitochondrial dysfunction in primary human fibroblasts triggers an adaptive cell survival program that requires AMPK-α.

B. Viollet, R. Rodenburg, J. Fransen, 2015, Biochimica et biophysica acta.

Pharmacological targeting of mitochondrial complex I deficiency: the cellular level and beyond.

J. Smeitink, P. Willems, W. Koopman, 2012, Mitochondrion.

Metabolic manipulators: a well founded strategy to combat mitochondrial dysfunction

J. Smeitink, S. Koene, 2010, Journal of Inherited Metabolic Disease.

Mechanisms of Disease Monogenic Mitochondrial Disorders

J. Smeitink, P. Willems, W. Koopman, 2018 .

Impaired ubiquitin‐proteasome‐mediated PGC‐1α protein turnover and induced mitochondrial biogenesis secondary to complex‐I deficiency

R. Rodenburg, J. Smeitink, E. Lasonder, 2012, Proteomics.

Asymptomatic and late‐onset ornithine transcarbamylase (OTC) deficiency in males of a five‐generation family, caused by an A208T mutation

E. Bakker, J. Smeitink, A. Reuser, 1996, Clinical genetics.

Mouse models for nuclear DNA-encoded mitochondrial complex I deficiency

J. Smeitink, P. Willems, W. Koopman, 2011, Journal of Inherited Metabolic Disease.

Localization of a new type of X-linked liver glycogenosis to the chromosomal region Xp22 containing the liver alpha-subunit of phosphorylase kinase (PHKA2).

R. Berger, J. Smeitink, P. Coucke, 1994, Genomics.

A novel splice site mutation in neonatal carnitine palmitoyl transferase II deficiency

R. Wanders, J. Smeitink, B. Semmekrot, 2003, Journal of Human Genetics.

Brothers in Arms: ABCA1- and ABCG1-Mediated Cholesterol Efflux as Promising Targets in Cardiovascular Disease Treatment

J. Smeitink, F. Russel, G. Rongen, 2019, Pharmacological Reviews.

Pathological Mutations of the Human NDUFS4 Gene of the 18-kDa (AQDQ) Subunit of Complex I Affect the Expression of the Protein and the Assembly and Function of the Complex*

V. Petruzzella, J. Smeitink, L. P. Van den Heuvel, 2003, Journal of Biological Chemistry.

Quantifying small molecule phenotypic effects using mitochondrial morpho-functional fingerprinting and machine learning

L. Buydens, R. Rodenburg, L. Blanchet, 2015, Scientific Reports.

Stimulation of cholesterol biosynthesis in mitochondrial complex I-deficiency lowers reductive stress and improves motor function and survival in mice.

Richard A. Notebaart, M. Huynen, S. Rossell, 2020, Biochimica et biophysica acta. Molecular basis of disease.

Simultaneous quantitative measurement and automated analysis of mitochondrial morphology, mass, potential, and motility in living human skin fibroblasts

Werner J H Koopman, J. Smeitink, P. Willems, 2006, Cytometry. Part A : the journal of the International Society for Analytical Cytology.

Measurement of the energy-generating capacity of human muscle mitochondria: diagnostic procedure and application to human pathology.

R. Rodenburg, J. Smeitink, L. P. Van den Heuvel, 2006, Clinical chemistry.

Outcome measures for children with mitochondrial disease: consensus recommendations for future studies from a Delphi-based international workshop

E. Bertini, S. Rahman, S. Parikh, 2018, Journal of Inherited Metabolic Disease.

Six-year prospective follow-up study in 151 carriers of the mitochondrial DNA 3243 A>G variant

J. Smeitink, N. Roeleveld, M. Janssen, 2020, Journal of Medical Genetics.

Intra‐patient variability of heteroplasmy levels in urinary epithelial cells in carriers of the m.3243A>G mutation

R. Rodenburg, J. Smeitink, M. Janssen, 2018, Molecular genetics & genomic medicine.

Erratum to: Clinical features and heteroplasmy in blood, urine and saliva in 34 Dutch families carrying the m.3243A>G mutation

R. Rodenburg, J. Smeitink, M. Janssen, 2012 .

Mitochondrial medicine: entering the era of treatment

J. Smeitink, S. Koene, J. Smeitink, 2009, Journal of internal medicine.

Metabolic consequences of NDUFS4 gene deletion in immortalized mouse embryonic fibroblasts.

R. Rodenburg, A. de Groof, B. Wieringa, 2012, Biochimica et biophysica acta.

Superoxide production is inversely related to complex I activity in inherited complex I deficiency.

J. Smeitink, P. Willems, S. Verkaart, 2007, Biochimica et biophysica acta.

CIA30 complex I assembly factor: a candidate for human complex I deficiency?

J. Smeitink, L. P. Van den Heuvel, R. Smeets, 2002, Human Genetics.

Combined enzymatic complex I and III deficiency associated with mutations in the nuclear encoded NDUFS4 gene.

L. V. D. Heuvel, J. Smeitink, L. P. Van den Heuvel, 2000, Biochemical and biophysical research communications.

Demonstration of a new pathogenic mutation in human complex I deficiency: a 5-bp duplication in the nuclear gene encoding the 18-kD (AQDQ) subunit.

E. Mariman, J. Smeitink, L. P. Van den Heuvel, 1998, American journal of human genetics.

The oxidative phosphorylation (OXPHOS) system: nuclear genes and human genetic diseases

J. Smeitink, L. P. van den Heuvel, 2001, BioEssays : news and reviews in molecular, cellular and developmental biology.

Essential polyunsaturated fatty acids in plasma and erythrocytes of children with inborn errors of amino acid metabolism.

J. Smeitink, T. D. de Koning, G. Hornstra, 2006, Molecular genetics and metabolism.

What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?

Robert W. Taylor, S. Dimauro, H. Smeets, 2012, Brain : a journal of neurology.

Acute stimulation of glucose influx upon mitoenergetic dysfunction requires LKB1, AMPK, Sirt2 and mTOR–RAPTOR

J. Smeitink, P. Willems, W. Koopman, 2016, Journal of Cell Science.

Defective protein glycosylation in patients with cutis laxa syndrome

R. Wevers, J. Smeitink, S. Wopereis, 2005, European Journal of Human Genetics.

Dietary intervention and oxidative phosphorylation capacity

R. Rodenburg, J. Smeitink, M. Vries, 2006, Journal of Inherited Metabolic Disease.

Mitochondrial medicine: a metabolic perspective on the pathology of oxidative phosphorylation disorders.

Massimo Zeviani, Jan A Smeitink, D. Turnbull, 2006, Cell metabolism.

SDHA mutations causing a multisystem mitochondrial disease: novel mutations and genetic overlap with hereditary tumors

R. Rodenburg, H. Venselaar, S. Wortmann, 2014, European Journal of Human Genetics.

Hyperhomocysteinemia: a risk factor for ischemic stroke in children.

H. Blom, M. Heijer, M. den Heijer, 1999, Circulation.

Mitochondrial dynamics in human NADH:ubiquinone oxidoreductase deficiency.

J. Smeitink, P. Willems, W. Koopman, 2009, The international journal of biochemistry & cell biology.

Is 2D speckle tracking echocardiography useful for detecting and monitoring myocardial dysfunction in adult m.3243A>G carriers? — a retrospective pilot study

C. D. de Korte, J. Timmermans, J. Smeitink, 2017, Journal of Inherited Metabolic Disease.

Multiplexed high-content analysis of mitochondrial morphofunction using live-cell microscopy

Werner J H Koopman, J. Smeitink, J. Beyrath, 2016, Nature Protocols.

OXPHOS genes expression and control in mitochondrial disorders

F. H. van der Westhuizen, J. Smeitink, F. V. D. Westhuizen, 2020 .

Mitochondrial network complexity and pathological decrease in complex I activity are tightly correlated in isolated human complex I deficiency.

J. Smeitink, P. Willems, S. Verkaart, 2005, American journal of physiology. Cell physiology.

Respiratory chain complex I deficiency.

J. Smeitink, L. P. Van den Heuvel, R. Triepels, 2001, American journal of medical genetics.

Multiple oxidative phosphorylation deficiencies in severe childhood multi-system disorders due to polymerase γ (POLG) mutations

R. Rodenburg, H. Laak, J. Smeitink, 2006 .

beta-Trace protein in human cerebrospinal fluid: a diagnostic marker for N-glycosylation defects in brain.

G. Boers, R. Wevers, J. Smeitink, 1999, Biochimica et biophysica acta.

The Redox Modulating Sonlicromanol Active Metabolite KH176m and the Antioxidant MPG Protect Against Short-Duration Cardiac Ischemia-Reperfusion Injury

J. Smeitink, C. Zuurbier, M. Hollmann, 2021, Cardiovascular Drugs and Therapy.

KH176 Safeguards Mitochondrial Diseased Cells from Redox Stress-Induced Cell Death by Interacting with the Thioredoxin System/Peroxiredoxin Enzyme Machinery

J. Smeitink, J. Beyrath, P. V. D. van den Broek, 2018, Scientific Reports.

KH 176 under development for rare mitochondrial disease : a first in man randomized controlled clinical trial in healthy male volunteers

F. Badilini, L. Bortel, J. Smeitink, 2018 .

KH176 under development for rare mitochondrial disease: a first in man randomized controlled clinical trial in healthy male volunteers

F. Badilini, L. V. Van Bortel, J. Smeitink, 2017, Orphanet Journal of Rare Diseases.

Identification of Mitochondrial Complex I Assembly Intermediates by Tracing Tagged NDUFS3 Demonstrates the Entry Point of Mitochondrial Subunits*

Rutger O. Vogel, J. Smeitink, L. P. Van den Heuvel, 2007, Journal of Biological Chemistry.

Molecular characterization and mutational analysis of the human B17 subunit of the mitochondrial respiratory chain complex I

J. Smeitink, L. P. Van den Heuvel, J. Loeffen, 1998, Human Genetics.

Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy

E. Mariman, M. Schuelke, J. Smeitink, 1999, Nature Genetics.

The nuclear-encoded human NADH:ubiquinone oxidoreductase NDUFA8 subunit: cDNA cloning, chromosomal localization, tissue distribution, and mutation detection in complex-I-deficient patients

J. Smeitink, L. P. Van den Heuvel, J. Loeffen, 1998, Human Genetics.

Mutated ND2 impairs mitochondrial complex I assembly and leads to Leigh syndrome.

R. Rodenburg, K. Majamaa, J. Smeitink, 2007, Molecular genetics and metabolism.

Biodegradable Synthetic Organelles Demonstrate ROS Shielding in Human-Complex-I-Deficient Fibroblasts

Loai K. E. A. Abdelmohsen, David S. Williams, D. Wilson, 2018, ACS Central Science.

One mutation, three phenotypes: novel metabolic insights on MELAS, MIDD and myopathy caused by the m.3243A > G mutation

R. Rodenburg, F. H. van der Westhuizen, J. Smeitink, 2021, Metabolomics.

Development of subdural effusions in association with pyruvate dehydrogenase deficiency

N. Gourtsoyiannis, A. Giannopoulos, R. Rodenburg, 2005, European Radiology.

Proton MR spectroscopy in a child with pyruvate dehydrogenase complex deficiency.

A. Heerschap, L. de Meirleir, J. Smeitink, 1999, Magnetic resonance imaging.

The decylTPP mitochondria-targeting moiety lowers electron transport chain supercomplex levels in primary human skin fibroblasts.

H. Zischka, R. Rodenburg, J. Smeitink, 2022, Free radical biology & medicine.

Mitochondrial disorders in children: toward development of small‐molecule treatment strategies

R. Rodenburg, J. Smeitink, J. Beyrath, 2016, EMBO molecular medicine.

Mitochondrial disorders in children: toward development of small‐molecule treatment strategies

R. Rodenburg, J. Smeitink, J. Beyrath, 2016, EMBO molecular medicine.

Trolox-sensitive reactive oxygen species regulate mitochondrial morphology, oxidative phosphorylation and cytosolic calcium handling in healthy cells.

R. Rodenburg, J. Smeitink, E. Verwiel, 2012, Antioxidants & redox signaling.

Isolated mitochondrial complex I deficiency: explorative data analysis of patient cell parameters.

L. Buydens, L. Blanchet, J. Smeitink, 2011, Current pharmaceutical design.

Complex I disorders: causes, mechanisms, and development of treatment strategies at the cellular level.

R. Rodenburg, J. Smeitink, P. Willems, 2010, Developmental disabilities research reviews.

Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease.

R. Rodenburg, J. Smeitink, E. Mayatepek, 2008, Brain : a journal of neurology.

Computer-assisted live cell analysis of mitochondrial membrane potential, morphology and calcium handling.

Werner J H Koopman, J. Smeitink, J. Esseling, 2008, Methods.

Statin Lactonization by Uridine 5'-Diphospho-glucuronosyltransferases (UGTs).

J. Smeitink, F. Russel, T. Schirris, 2015, Molecular pharmaceutics.

Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy, and Leigh-like syndrome (MEGDEL association) in four patients with a disorder of the oxidative phosphorylation.

R. Rodenburg, M. Huizing, U. Engelke, 2006, Molecular genetics and metabolism.

Skeletal muscle mitochondria of NDUFS4-/- mice display normal maximal pyruvate oxidation and ATP production.

Richard A. Notebaart, M. Huynen, R. Rodenburg, 2015, Biochimica et biophysica acta.

Mitigation of NADH: ubiquinone oxidoreductase deficiency by chronic Trolox treatment.

J. Smeitink, P. Willems, S. Verkaart, 2008, Biochimica et biophysica acta.

Simultaneous quantification of oxidative stress and cell spreading using 5‐(and‐6)‐chloromethyl‐2′,7′‐dichlorofluorescein

J. Smeitink, P. Willems, S. Verkaart, 2006, Cytometry. Part A : the journal of the International Society for Analytical Cytology.

Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy

H. Mandel, J. Smeitink, L. P. Van den Heuvel, 2001, Annals of neurology.

Direct measurement of lipid peroxidation in submitochondrial particles.

J. Smeitink, J. Meyer, J. Fischer, 1995, Biochemistry.

SURFEIT-1 gene analysis and two-dimensional blue native gel electrophoresis in cytochrome c oxidase deficiency.

L. Grivell, J. Smeitink, L. P. Van den Heuvel, 1999, Biochemical and biophysical research communications.

Mitochondrial oxidative phosphorylation system assembly in man: recent achievements

J. Smeitink, M. Coenen, L. P. van den Heuvel, 2001, Current opinion in neurology.

A novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy

U. Dillmann, R. Rodenburg, J. Smeitink, 2007, Journal of Medical Genetics.

NDUFA2 complex I mutation leads to Leigh disease.

R. Rodenburg, J. Smeitink, L. P. Van den Heuvel, 2008, American journal of human genetics.

Congenital hypertrophic cardiomyopathy, cataract, mitochondrial myopathy and defective oxidative phosphorylation in two siblings with Sengers-like syndrome

H. Laak, J. Smeitink, E. Morava, 2004 .

ARX-associated infantile epileptic-dyskinetic encephalopathy with responsiveness to valproate for controlling seizures and reduced activity of muscle mitochondrial complex IV

R. Rodenburg, J. Smeitink, C. Fung, 2019, Brain and Development.

The X-chromosomal NDUFA1 gene of complex I in mitochondrial encephalomyopathies: Tissue expression and mutation detection

E. Mariman, J. Smeitink, L. P. Van den Heuvel, 1998, Journal of Inherited Metabolic Disease.

A Heterozygous NDUFV1 Variant Aggravates Mitochondrial Complex I Deficiency in a Family with a Homoplasmic ND1 Variant

R. Rodenburg, J. Smeitink, L. Nijtmans, 2018, The Journal of pediatrics.

Transcriptional changes in OXPHOS complex I deficiency are related to anti-oxidant pathways and could explain the disturbed calcium homeostasis.

A. Voets, H. Smeets, R. Rodenburg, 2012, Biochimica et biophysica acta.

Identification of non-structural complex I genes which are responsible for isolated mitochondrial complex I deficiency

J. Smeitink, L. Heuvel, 2002 .

Mitochondrial dysfunction in a patient with Joubert syndrome.

H. van Bokhoven, J. Smeitink, L. P. Van den Heuvel, 2005, Neuropediatrics.

A Method for Quantitative Measurement of Mitochondrial Creatine Kinase in Human Skeletal Muscle

R. Wevers, J. Smeitink, T. Wallimann, 1992, Annals of Clinical Biochemistry.

International Paediatric Mitochondrial Disease Scale

Marni J. Falk, V. Wong, J. Hendriks, 2016, Journal of Inherited Metabolic Disease.

Erratum to: Clinical features and heteroplasmy in blood, urine and saliva in 34 Dutch families carrying the m.3243A>G mutation

R. Rodenburg, J. Smeitink, M. Janssen, 2012, Journal of Inherited Metabolic Disease.

Cellular Consequences of mtDNA-Encoded Mutations in NADH:Ubiquinone Oxidoreductase

J. Smeitink, P. Willems, W. Koopman, 2012 .

Human mitochondrial complex I deficiency: investigating transcriptional responses by microarray.

R. Pfundt, A. V. van Kessel, F. H. van der Westhuizen, 2003, Neuropediatrics.

Unusual features of mitochondrial degeneration in skeletal muscle of patients with nuclear complex I mutation

H. Laak, J. Smeitink, A. Dinopoulos, 2005, Acta Neuropathologica.

Natural variability of daily physical activity measured by accelerometry in children with a mitochondrial disease.

J. Smeitink, I. D. de Groot, M. Janssen, 2019, Mitochondrion.

Quantification of gait in children with mitochondrial disease

J. Smeitink, M. D. De Vries, M. Janssen, 2018, Journal of Inherited Metabolic Disease.

Domains of Daily Physical Activity in Children with Mitochondrial Disease: A 3D Accelerometry Approach.

K. Meijer, J. Smeitink, I. D. de Groot, 2017, JIMD reports.

Mitochondrial diseases in Hong Kong: prevalence, clinical characteristics and genetic landscape

R. Rodenburg, J. Smeitink, C. Lam, 2023, Orphanet Journal of Rare Diseases.

Mitochondrial disorders

J. Smeitink, N. Wolf, 2002, Neurology.

High prevalence of complementary and alternative medicine use in patients with genetically proven mitochondrial disorders

R. Rodenburg, S. Wortmann, J. Smeitink, 2015, Journal of Inherited Metabolic Disease.

Towards the harmonization of outcome measures in children with mitochondrial disorders

J. Smeitink, C. Verhaak, M. Jansen, 2013, Developmental medicine and child neurology.

Clinical and biochemical characteristics in patients with a high mutant load of the mitochondrial T8993G/C mutations

R. Rodenburg, J. Smeitink, L. P. Van den Heuvel, 2006, American Journal of Medical Genetics. Part A.

Biochemical Diagnosis of OXPHOS Disorders

J. Smeitink, R. Sengers, L. Heuvel, 2004 .

Biochemical and molecular genetic characteristics of the severe form of tyrosine hydroxylase deficiency.

R. Wevers, J. Smeitink, L. P. Van den Heuvel, 1999, Clinical chemistry.

A common point mutation in the tyrosine hydroxylase gene in autosomal recessive L-DOPA-responsive dystonia in the Dutch population

R. Wevers, J. Smeitink, L. P. Van den Heuvel, 1998, Human Genetics.

New treatment strategy for Smith-Lemli-Opitz syndrome

R. Wevers, J. Smeitink, E. Rubio-Gozalbo, 1997, The Lancet.

Five non-mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes phenotype adult patients with m.3243A>G mutation after kidney transplantation: follow-up and review of the literature

J. Wetzels, J. Smeitink, M. Janssen, 2019, Clinical kidney journal.

Fear of disease progression in carriers of the m.3243A > G mutation

J. Smeitink, J. Custers, C. Verhaak, 2018, Orphanet Journal of Rare Diseases.

Baculovirus complementation restores a novel NDUFAF2 mutation causing complex I deficiency

R. Rodenburg, J. Smeitink, L. P. Van den Heuvel, 2009, Human mutation.

Biallelic variants in WARS2 encoding mitochondrial tryptophanyl‐tRNA synthase in six individuals with mitochondrial encephalopathy

G. Pruijn, J. Veltman, H. Prokisch, 2017, Human mutation.

A novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy

U. Dillmann, R. Rodenburg, J. Smeitink, 2007, Journal of Medical Genetics.

The role of mitochondrial OXPHOS dysfunction in the development of neurologic diseases

R. Rodenburg, J. Smeitink, P. Willems, 2013, Neurobiology of Disease.

Fatal hypertensive crisis as presentation of mitochondrial complex I deficiency.

R. Rodenburg, J. Smeitink, E. Mayatepek, 2007, Neuropediatrics.

Mitochondrial creatine kinase activity in patients with disturbed energy generation in muscle mitochondria

R. Wevers, J. Smeitink, T. Lith, 1994, Journal of Inherited Metabolic Disease.

Maturation of Mitochondrial and other Isoenzymes of Creatine Kinase in Skeletal Muscle of Preterm Born Infants

R. Wevers, J. Smeitink, W. Sperl, 1992, Annals of clinical biochemistry.

Mitochondrial retinal dystrophy associated with the m.3243A>G mutation.

J. Keunen, J. Smeitink, M. Janssen, 2013, Ophthalmology.

Inheritance of the m.3243A>G mutation.

R. Rodenburg, J. Smeitink, M. Janssen, 2013, JIMD reports.

Dissecting Drug-Induced Cytotoxicity and Metabolic Dysfunction in Conditionally Immortalized Human Proximal Tubule Cells

J. Smeitink, F. Russel, T. Schirris, 2022, Frontiers in Toxicology.

[Three hypotonic neonates with hypertrophic cardiomyopathy: Pompe's disease].

J. Smeitink, M. Willemsen, A. T. van der Ploeg, 1998, Nederlands tijdschrift voor geneeskunde.

New mitochondrial tRNA HIS mutation in a family with lactic acidosis and stroke-like episodes (MELAS).

R. Rodenburg, J. Smeitink, L. Nijtmans, 2011, Mitochondrion.

Oxidative switch drives mitophagy defects in dopaminergic parkin mutant patient neurons

J. Smeitink, L. Ferraiuolo, H. Mortiboys, 2020, Scientific Reports.

Quantification of gait in mitochondrial m.3243A > G patients: a validation study

J. Smeitink, M. Janssen, J. Groothuis, 2017, Orphanet Journal of Rare Diseases.

3-Methylglutaconic aciduria—lessons from 50 genes and 977 patients

R. Rodenburg, F. Alkuraya, T. Kleefstra, 2013, Journal of Inherited Metabolic Disease.

A Prognostic Index as Diagnostic Strategy in Children Suspected of Mitochondriocytopathy

A. Verbeek, J. Smeitink, R. Sengers, 2000, Neuropediatrics.

Nuclear genes and oxidative phosphorylation disorders: a review

J. Smeitink, L. P. Van den Heuvel, R. Sengers, 2000, European Journal of Pediatrics.

Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect.

E. Shoubridge, H. Antonicka, R. Rodenburg, 2010, American journal of human genetics.

Favourable clinical course in an infant with severe deficiency of complex III of the respiratory chain combined with less severe deficiencies of complexes I, II and IV

E. Mariman, H. Schägger, J. Smeitink, 1997, European Journal of Pediatrics.

Analysis of mitochondrial DNA sequences in patients with isolated or combined oxidative phosphorylation system deficiency

K. Majamaa, J. Smeitink, C. Ugalde, 2006, Journal of Medical Genetics.

Cytochrome c oxidase biogenesis in a patient with a mutation in COX10 gene

J. Smeitink, L. P. Van den Heuvel, L. Nijtmans, 2004, Annals of neurology.

Defects in the mitochondrial energy metabolism outside the respiratory chain and the pyruvate dehydrogenase complex

M. Huizing, J. Smeitink, R. Sengers, 1997, Molecular and Cellular Biochemistry.

Quantitative Glucose and ATP Sensing in Mammalian Cells

J. Smeitink, R. Brock, P. Willems, 2011, Pharmaceutical Research.

Mitochondrial medicine

J. Smeitink, S. Koene, 2011, Journal of Inherited Metabolic Disease.

Oxidative Phosphorylation in Health and Disease

J. Smeitink, R. Sengers, J. Trijbels, 2010 .

Moderate citrullinaemia without hyperammonaemia in a child with mutated and deficient argininosuccinate synthetase

Hanneke J T Kwast, R. D. De Abreu, T. Saheki, 2003, Annals of clinical biochemistry.

A retrospective study of patients with the hereditary syndrome of congenital cataract, mitochondrial myopathy of heart and skeletal muscle and lactic acidosis

J. Smeitink, R. Sengers, A. Stadhouders, 1993, European Journal of Pediatrics.

The human mitochondrial ribosome recycling factor is essential for cell viability

M. Pekalski, R. Lightowlers, J. Smeitink, 2008, Nucleic acids research.

Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese

Y. Chien, W. Hwu, R. Rodenburg, 2019, npj Genomic Medicine.

Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder

Pedro Rebelo-Guiomar, M. Minczuk, J. Veltman, 2018, Nature Communications.

Author’s reply to: anesthesia care for muscle biopsy in children with myopathies by Dr Ferrari Fabio

J. Smeitink, J. Driessen, 2009 .

Proteomics and neuromuscular diseases: theoretical concept and first results

R. Wevers, J. Smeitink, L. P. Van den Heuvel, 2003, Annals of Clinical Biochemistry.

Altered folate and vitamin B12 metabolism in families with spina bifida offspring.

E. Mariman, H. Blom, Christopher M Thomas, 1997, QJM : monthly journal of the Association of Physicians.

I-cell disease presenting with severe hypophosphatemia and cardiomyopathy.

R. Wevers, J. Smeitink, C. Noordam, 2000, Neuropediatrics.

Protein Complexes in the Archaeon Methanothermobacter thermautotrophicus Analyzed by Blue Native/SDS-PAGE and Mass Spectrometry*S

R. Wevers, J. Smeitink, L. P. Van den Heuvel, 2005, Molecular & Cellular Proteomics.

Rate-Dependent Distal Renal Tubular Acidosis and Carnitine Palmitoyltransferase I Deficiency

M. Durán, B. Poll-The, J. Smeitink, 1994, Pediatric Research.

Tetrahydrobiopterin loading test in xanthine dehydrogenase and molybdenum cofactor deficiencies.

C. Heizmann, M. Durán, N. Blau, 1996, Biochemical and molecular medicine.

Time to Change: A Systems Pharmacology Approach to Disentangle Mechanisms of Drug-Induced Mitochondrial Toxicity

J. Smeitink, F. Russel, T. Schirris, 2023, Pharmacological Reviews.

Metabolic impact of genetic and chemical ADP/ATP carrier inhibition in renal proximal tubule epithelial cells

J. Smeitink, F. Russel, W. Koopman, 2023, Archives of Toxicology.

Systemic infantile complex I deficiency with fatal outcome in two brothers.

J. Smeitink, R. Sengers, U. Wendel, 1998, Neuropediatrics.

Therapeutic Options in OXPHOS Disorders

J. Smeitink, E. Morava, R. Sengers, 2004 .

Rett syndrome in a patient with medium chain acyl-CoA dehydrogenase deficiency

M. Durán, B. Poll-The, J. Smeitink, 1994, European Journal of Pediatrics.

Mitochondrial diseases in Hong Kong: prevalence, clinical characteristics and genetic landscape

R. Rodenburg, J. Smeitink, C. Lam, 2023, Orphanet Journal of Rare Diseases.

Recurrent acute liver failure and mitochondriopathy in a case of Wolcott–Rallison syndrome

S. Ellard, R. Rodenburg, G. Engelmann, 2008, Journal of Inherited Metabolic Disease.

Mitochondrial disease criteria

R. Rodenburg, L. V. D. Heuvel, J. Smeitink, 2006, Neurology.

The genotypic and phenotypic spectrum of MTO1 deficiency

C. Ross, W. Wasserman, H. Prokisch, 2018, Molecular genetics and metabolism.

Therapeutic effects of the mitochondrial ROS-redox modulator KH176 in a mammalian model of Leigh Disease

A. Heerschap, J. Smeitink, J. Beyrath, 2017, Scientific Reports.

A randomised placebo-controlled, double-blind phase II study to explore the safety, efficacy, and pharmacokinetics of sonlicromanol in children with genetically confirmed mitochondrial disease and motor symptoms (“KHENERGYC”)

J. Smeitink, L. de Boer, H. Renkema, 2022, BMC Neurology.

in children : toward development of small-molecule treatment strategies

R. Rodenburg, J. Smeitink, J. Beyrath, 2018 .

Mitochondrial disorders

J. Smeitink, N. Wolf, 2002, Neurology.

Mitochondrial respiratory chain disease presenting as progressive bulbar paralysis of childhood

J. Smeitink, L. Dorland, T. D. de Koning, 2004, Journal of Inherited Metabolic Disease.

A novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy

U. Dillmann, R. Rodenburg, J. Smeitink, 2009, BMJ Case Reports.

Inhibition of the ER stress IRE1α inflammatory pathway protects against cell death in mitochondrial complex I mutant cells

Rutger O. Vogel, P. Puigserver, S. Gygi, 2018, Cell Death & Disease.

Mitochondrial hyperpolarization during chronic complex I inhibition is sustained by low activity of complex II, III, IV and V.

J. Smeitink, Aleksandra Wojtala, M. Wieckowski, 2014, Biochimica et biophysica acta.

Mitochondrial dysfunction in primary human fibroblasts triggers an adaptive cell survival program that requires AMPK-α.

B. Viollet, R. Rodenburg, J. Fransen, 2015, Biochimica et biophysica acta.

Mitochondrial function and morphology are impaired in parkin‐mutant fibroblasts

N. Wood, J. Smeitink, H. Mortiboys, 2008, Annals of neurology.

Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome.

M. Baumgartner, T. Wieland, T. Meitinger, 2012, American journal of human genetics.

Mitochondrial DNA replication and OXPHOS gene transcription show varied responsiveness to Rieske protein knockdown in 143B cells.

F. H. van der Westhuizen, J. Smeitink, L. Nijtmans, 2011, Biochimie.

Rescue from galactose-induced death of Leigh Syndrome patient cells by pyruvate and NAD+

J. Smeitink, J. Beyrath, P. Willems, 2018, Cell Death & Disease.

Metabolic consequences of NDUFS4 gene deletion in immortalized mouse embryonic fibroblasts.

R. Rodenburg, A. de Groof, B. Wieringa, 2012, Biochimica et biophysica acta.

Life cell quantification of mitochondrial membrane potential at the single organelle level

J. Smeitink, E. Mayatepek, P. Willems, 2008, Cytometry. Part A : the journal of the International Society for Analytical Cytology.

Reconstructing the evolution of the mitochondrial ribosomal proteome

Thijs J. G. Ettema, M. Huynen, J. Smeitink, 2007, Nucleic acids research.

A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia.

M. Huynen, J. Veltman, R. Rodenburg, 2013, Human molecular genetics.

Acyl-CoA dehydrogenase 9 is required for the biogenesis of oxidative phosphorylation complex I.

Rutger O. Vogel, M. Huynen, R. Rodenburg, 2010, Cell metabolism.

Mitochondrial retinal dystrophy associated with the m.3243A>G mutation.

J. Keunen, J. Smeitink, M. Janssen, 2013, Ophthalmology.

Subunit-specific Incorporation Efficiency and Kinetics in Mitochondrial Complex I Homeostasis*

J. Smeitink, P. Willems, H. Swarts, 2012, The Journal of Biological Chemistry.

Identification of the molecular defect in patients with peroxisomal mosaicism using a novel method involving culturing of cells at 40°C: Implications for other inborn errors of metabolism

H. Waterham, H. Mandel, R. Wanders, 2004, Human mutation.

International Workshop: Outcome measures and clinical trial readiness in primary mitochondrial myopathies in children and adults. Consensus recommendations. 16–18 November 2016, Rome, Italy

M. Zeviani, H. Prokisch, M. Mancuso, 2017, Neuromuscular Disorders.

A novel mutation in COQ2 leading to fatal infantile multisystem disease

R. Rodenburg, R. Wevers, S. Wortmann, 2013, Journal of the Neurological Sciences.

Mitochondrial dynamics in human NADH:ubiquinone oxidoreductase deficiency.

J. Smeitink, P. Willems, W. Koopman, 2009, The international journal of biochemistry & cell biology.