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Mitochondrial ATP synthase: architecture, function and pathology

Journal of inherited metabolic disease, 2012-03, Vol.35 (2), p.211-225

2012

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Monogenic Mitochondrial Disorders

The New England journal of medicine, 2012-03, Vol.366 (12), p.1132-1141

2012

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

Journal of inherited metabolic disease, 2012-11, Vol.35 (6), p.1059-1069

2012

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Mitochondrial function and morphology are impaired in parkin-mutant fibroblasts

Annals of neurology, 2008-11, Vol.64 (5), p.555-565

2008

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Spectrophotometric Assay for Complex I of the Respiratory Chain in Tissue Samples and Cultured Fibroblasts

Clinical chemistry (Baltimore, Md.), 2007-04, Vol.53 (4), p.729-734

2007

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Statin Lactonization by Uridine 5′-Diphospho-glucuronosyltransferases (UGTs)

Molecular pharmaceutics, 2015-11, Vol.12 (11), p.4048-4055

2015

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Mutations in C12orf65 in Patients with Encephalomyopathy and a Mitochondrial Translation Defect

American journal of human genetics, 2010-07, Vol.87 (1), p.115-122

2010

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

Journal of inherited metabolic disease, 2013-11, Vol.36 (6), p.913-921

2013

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A complex V ATP5A1 defect causes fatal neonatal mitochondrial encephalopathy

Brain (London, England : 1878), 2013-05, Vol.136 (Pt 5), p.1544-1554

2013

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

Pharmacological reviews, 2020-01, Vol.72 (1), p.152-190

2020

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Mutations in NDUFAF3 (C3ORF60), Encoding an NDUFAF4 (C6ORF66)-Interacting Complex I Assembly Protein, Cause Fatal Neonatal Mitochondrial Disease

American journal of human genetics, 2009-06, Vol.84 (6), p.718-727

2009

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Reconstructing the evolution of the mitochondrial ribosomal proteome

Nucleic acids research, 2007-07, Vol.35 (14), p.4686-4703

2007

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Analysis of 953 human proteins from a mitochondrial HEK293 fraction by complexome profiling

PloS one, 2013-07, Vol.8 (7), p.e68340-e68340

2013

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

Orphanet journal of rare diseases, 2020-03, Vol.15 (1), p.76-76, Article 76

2020

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The antioxidant Trolox restores mitochondrial membrane potential and Ca2+-stimulated ATP production in human complex I deficiency

Journal of molecular medicine (Berlin, Germany), 2009-05, Vol.87 (5), p.515-522

2009

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Mitochondrial complex I: Structure, function and pathology

Journal of inherited metabolic disease, 2006-08, Vol.29 (4), p.499-515

2006

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Secondary mitochondrial dysfunction in propionic aciduria: a pathogenic role for endogenous mitochondrial toxins

Biochemical journal, 2006-08, Vol.398 (1), p.107-112

2006

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Photo-induction and automated quantification of reversible mitochondrial permeability transition pore opening in primary mouse myotubes

PloS one, 2014-11, Vol.9 (11), p.e114090-e114090

2014

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

Neurology, 2014-07, Vol.83 (2), p.125-133

2014

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

American Journal of Physiology: Cell Physiology, 2005-10, Vol.289 (4), p.C881-C890

2005

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A Mutation in C2orf64 Causes Impaired Cytochrome c Oxidase Assembly and Mitochondrial Cardiomyopathy

American journal of human genetics, 2011-04, Vol.88 (4), p.488-493

2011

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

American Journal of Physiology: Cell Physiology, 2007-07, Vol.293 (1), p.C22-C29

2007

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OXPHOS mutations and neurodegeneration

The EMBO journal, 2013-01, Vol.32 (1), p.9-29

2013

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

Nature protocols, 2016-09, Vol.11 (9), p.1693-1710

2016

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Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy

Brain (London, England : 1878), 2009-01, Vol.132 (1), p.136-146

2009

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Mitochondrial ATP synthase: architecture, function and pathology

Monogenic Mitochondrial Disorders

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

Mitochondrial function and morphology are impaired in parkin-mutant fibroblasts

Spectrophotometric Assay for Complex I of the Respiratory Chain in Tissue Samples and Cultured Fibroblasts

Statin Lactonization by Uridine 5′-Diphospho-glucuronosyltransferases (UGTs)

Mutations in C12orf65 in Patients with Encephalomyopathy and a Mitochondrial Translation Defect

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

A complex V ATP5A1 defect causes fatal neonatal mitochondrial encephalopathy

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

Mutations in NDUFAF3 (C3ORF60), Encoding an NDUFAF4 (C6ORF66)-Interacting Complex I Assembly Protein, Cause Fatal Neonatal Mitochondrial Disease

Reconstructing the evolution of the mitochondrial ribosomal proteome

Analysis of 953 human proteins from a mitochondrial HEK293 fraction by complexome profiling

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

The antioxidant Trolox restores mitochondrial membrane potential and Ca2+-stimulated ATP production in human complex I deficiency

Mitochondrial complex I: Structure, function and pathology

Secondary mitochondrial dysfunction in propionic aciduria: a pathogenic role for endogenous mitochondrial toxins

Photo-induction and automated quantification of reversible mitochondrial permeability transition pore opening in primary mouse myotubes

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

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

A Mutation in C2orf64 Causes Impaired Cytochrome c Oxidase Assembly and Mitochondrial Cardiomyopathy

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

OXPHOS mutations and neurodegeneration

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

Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy

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