List of works - Richard J Rodenburg

Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations

scientific article

A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases

scientific article published on 18 October 2013

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

scientific article published on 22 February 2007

Mitochondrial ATP synthase: architecture, function and pathology.

scientific article

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

scientific article published on 01 March 2007

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

scientific article published on 31 March 2009

Enhanced number and activity of mitochondria in multiple sclerosis lesions

scientific article published in October 2009

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

scientific article

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

scientific article

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

scientific article published on August 2006

SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness

scientific article published on 14 February 2007

Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness.

scientific article

Depletion of PINK1 affects mitochondrial metabolism, calcium homeostasis and energy maintenance

scientific article published on 8 March 2011

Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome

scientific article

Whole exome sequencing of suspected mitochondrial patients in clinical practice.

scientific article published on 4 March 2015

Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing

scientific article published on 5 April 2012

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

scientific article

Mitochondrial disease criteria: Diagnostic applications in children

scientific article published on 01 November 2006

Cardiolipin and monolysocardiolipin analysis in fibroblasts, lymphocytes, and tissues using high-performance liquid chromatography-mass spectrometry as a diagnostic test for Barth syndrome

scientific article

Microbial stimulation of different Toll-like receptor signalling pathways induces diverse metabolic programmes in human monocytes

scientific article published on 19 December 2016

NDUFA2 complex I mutation leads to Leigh disease

scientific article

Statin-Induced Myopathy Is Associated with Mitochondrial Complex III Inhibition.

scientific article published on September 2015

Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders

scientific article published on 27 October 2016

A combination of proteomics, principal component analysis and transcriptomics is a powerful tool for the identification of biomarkers for macrophage maturation in the U937 cell line.

scientific article published in April 2004

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

scientific article

X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy.

scientific article

A guide to diagnosis and treatment of Leigh syndrome.

scientific article

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

scientific article

Mitochondrial complex I-linked disease

scientific article published on February 22, 2016

LC-MS/MS as an alternative for SDS-PAGE in blue native analysis of protein complexes

scientific article

Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening

scientific article published on 25 December 2013

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

scientific article published on 22 October 2007

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

scientific article published on 2 November 2012

ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation

scientific article published on 27 May 2016

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

scientific article published on 16 November 2008

Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression

scientific article

Measurement of the Energy-Generating Capacity of Human Muscle Mitochondria: Diagnostic Procedure and Application to Human Pathology

scientific article published on 16 March 2006

Mutations in RARS cause hypomyelination

scientific article (publication date: July 2014)

CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder

scientific article

TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies

scientific journal article

A complex V ATP5A1 defect causes fatal neonatal mitochondrial encephalopathy

scientific article

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

scientific article published on 7 September 2006

Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.

scientific article

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

scientific article

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

scientific article published on 22 September 2006

Disturbed energy metabolism and muscular dystrophy caused by pure creatine deficiency are reversible by creatine intake

scientific article

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

scientific article published on December 29, 2010

NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern

scientific article

Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number

scientific journal article

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

scientific article published on 25 January 2013

List of works by Richard J Rodenburg

Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations

A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases

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

Mitochondrial ATP synthase: architecture, function and pathology.

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

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

Enhanced number and activity of mitochondria in multiple sclerosis lesions

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

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

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

SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness

Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness.

Depletion of PINK1 affects mitochondrial metabolism, calcium homeostasis and energy maintenance

Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome

Whole exome sequencing of suspected mitochondrial patients in clinical practice.

Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing

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

Mitochondrial disease criteria: Diagnostic applications in children

Cardiolipin and monolysocardiolipin analysis in fibroblasts, lymphocytes, and tissues using high-performance liquid chromatography-mass spectrometry as a diagnostic test for Barth syndrome

Microbial stimulation of different Toll-like receptor signalling pathways induces diverse metabolic programmes in human monocytes

NDUFA2 complex I mutation leads to Leigh disease

Statin-Induced Myopathy Is Associated with Mitochondrial Complex III Inhibition.

Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders

A combination of proteomics, principal component analysis and transcriptomics is a powerful tool for the identification of biomarkers for macrophage maturation in the U937 cell line.

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

X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy.

A guide to diagnosis and treatment of Leigh syndrome.

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

Mitochondrial complex I-linked disease

LC-MS/MS as an alternative for SDS-PAGE in blue native analysis of protein complexes

Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening

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

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

ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation

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

Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression

Measurement of the Energy-Generating Capacity of Human Muscle Mitochondria: Diagnostic Procedure and Application to Human Pathology

Mutations in RARS cause hypomyelination

CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder

TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies

A complex V ATP5A1 defect causes fatal neonatal mitochondrial encephalopathy

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

Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.

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

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

Disturbed energy metabolism and muscular dystrophy caused by pure creatine deficiency are reversible by creatine intake

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

NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern

Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number

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