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Lista de obras de Richard J Rodenburg

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

artículo científico publicado en 2013

4-Hydroxybenzoic acid restores CoQ10 biosynthesis in human COQ2 deficiency

artículo científico publicado en 2017

A Diagnostic Algorithm for Mitochondrial Disorders in Estonian Children

artículo científico publicado en 2012

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

artículo científico publicado en 2013

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

scientific article published on 20 October 2011

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.

artículo científico publicado en 2004

A complex V ATP5A1 defect causes fatal neonatal mitochondrial encephalopathy

artículo científico publicado en 2013

A functional Sp1 binding site is essential for the activity of the adult liver-specific human insulin-like growth factor II promoter

artículo científico publicado en 1997

A guide to diagnosis and treatment of Leigh syndrome.

artículo científico publicado en 2013

A lethal neonatal phenotype of mitochondrial short-chain enoyl-CoA hydratase-1 deficiency.

artículo científico publicado en 2016

A multi-center comparison of diagnostic methods for the biochemical evaluation of suspected mitochondrial disorders.

artículo científico publicado en 2012

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

artículo científico publicado en 2012

A mutation in the human CBP4 ortholog UQCC3 impairs complex III assembly, activity and cytochrome b stability

artículo científico publicado en 2014

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

artículo científico publicado en 2009

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

artículo científico publicado en 2007

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

artículo científico publicado en 2014

A novel mutation in COQ2 leading to fatal infantile multisystem disease.

artículo científico

A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13.

artículo científico publicado en 2016

A novel mutation in the SCO2 gene in a neonate with early-onset cardioencephalomyopathy

artículo científico publicado en 2010

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

artículo científico publicado en 2016

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

artículo científico publicado en 2010

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

artículo científico publicado en 2013

Androgenic activity in surface water samples detected using the AR-LUX assay: indications for mixture effects

artículo científico publicado en 2005

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

artículo científico publicado en 2006

Atypical Clinical Presentations of TAZ Mutations: An Underdiagnosed Cause of Growth Retardation?

artículo científico publicado en 2016

Baculovirus complementation restores a novel NDUFAF2 mutation causing complex I deficiency.

artículo científico publicado en 2009

Beta-adrenergic receptor agonists induce the release of granulocyte chemotactic protein-2, oncostatin M, and vascular endothelial growth factor from macrophages.

artículo científico publicado en 2005

Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy.

artículo científico publicado en 2017

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

artículo científico publicado en 2017

Bilateral Vestibulopathy Aggravates Balance and Gait Disturbances in Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis

artículo científico publicado en 2016

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

artículo científico publicado en 2008

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

artículo científico publicado en 2004

C7orf30 specifically associates with the large subunit of the mitochondrial ribosome and is involved in translation

artículo científico publicado en 2012

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

artículo científico publicado en 2013

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

artículo científico publicado en 2015

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

artículo científico publicado en 2009

Characterization of anti-inflammatory compounds using transcriptomics, proteomics, and metabolomics in combination with multivariate data analysis.

artículo científico publicado en 2004

Chronic progressive external ophthalmoplegia caused by an m.4267A > G mutation in the mitochondrial tRNAIle

scientific article published on 02 November 2007

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

artículo científico publicado en 2006

Coenzyme Q deficiency causes impairment of the sulfide oxidation pathway.

artículo científico publicado en 2016

Coenzyme Q(10) is decreased in fibroblasts of patients with methylmalonic aciduria but not in mevalonic aciduria.

artículo científico publicado en 2009

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

artículo científico publicado en 2010

Compound heterozygous SPATA5 variants in four families and functional studies of SPATA5 deficiency

artículo científico publicado en 2018

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

article

Correction: New Findings in a Global Approach to Dissect the Whole Phenotype of PLA2G6 Gene Mutations

artículo científico publicado en 2013

Cytosolic phosphoenolpyruvate carboxykinase deficiency presenting with acute liver failure following gastroenteritis

artículo científico publicado en 2016

Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.

artículo científico publicado en 2015

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

artículo científico publicado en 2011

Depressive behaviour in children diagnosed with a mitochondrial disorder

artículo científico publicado en 2010

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

artículo científico publicado en 2016

Detection of hormonal anabolic compounds in calf urine and unverified growth-promoting preparations: application of the AR-LUX bioassay for screening and determination of androgenic activity.

artículo científico publicado en 2003

Development of an Androgen Reporter Gene Assay (AR-LUX) Utilizing a Human Cell Line with an Endogenously Regulated Androgen Receptor ⬇️

artículo científico publicado el 1 de noviembre de 2001

Development of subdural effusions in association with pyruvate dehydrogenase deficiency.

artículo científico publicado en 2005

Dietary intervention and oxidative phosphorylation capacity

scientific article published on 19 June 2006

Distal joint contractures, mental retardation, characteristic face and growth retardation: Chitayat syndrome revisited.

artículo científico publicado en 2007

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

artículo científico publicado en 2006

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

artículo científico publicado en 2012

Early and lethal neurodegeneration with myasthenic and myopathic features: A new ALG14-CDG.

artículo científico publicado en 2017

Early cardiac involvement in children carrying the A3243G mtDNA mutation

artículo científico publicado en 2007

Encephalomyopathy and optic atrophy with tall stature and mitochondrial dysfunction: a new syndrome

artículo científico publicado en 2007

Endotoxin-induced liver damage in rats is minimized by beta 2-adrenoceptor stimulation

artículo científico publicado en 2004

Enhanced number and activity of mitochondria in multiple sclerosis lesions

artículo científico publicado en 2009

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

artículo científico publicado en 2012

Erratum: Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD).

artículo científico publicado en 2017

Expression of macrophage-derived chemokine (MDC) mRNA in macrophages is enhanced by interleukin-1beta, tumor necrosis factor alpha, and lipopolysaccharide.

artículo científico publicado en 1998

Fatal Hypertensive Crisis as Presentation of Mitochondrial Complex I Deficiency

scientific article published on 01 June 2007

Fatal neonatal encephalopathy and lactic acidosis caused by a homozygous loss-of-function variant in COQ9.

artículo científico

Feeding difficulties, a key feature of the Drosophila NDUFS4 mitochondrial disease model

artículo científico publicado en 2018

Females with PDHA1 gene mutations: a diagnostic challenge.

artículo científico publicado en 2006

Fluorescence imaging of mitochondria in cultured skin fibroblasts: a useful method for the detection of oxidative phosphorylation defects.

artículo científico publicado en 2012

Functional consequences of mitochondrial tRNA Trp and tRNA Arg mutations causing combined OXPHOS defects.

artículo científico publicado en 2009

Gene amplification in a human osteosarcoma cell line results in the persistence of the original chromosome and the formation of translocation chromosomes

artículo científico publicado el 1 de mayo de 1992

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

artículo científico publicado en 2012

Genotype-specific abnormalities in mitochondrial function associate with distinct profiles of energy metabolism and catecholamine content in pheochromocytoma and paraganglioma.

artículo científico publicado en 2013

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

artículo científico publicado en 2014

High-throughput assay to measure oxygen consumption in digitonin-permeabilized cells of patients with mitochondrial disorders.

artículo científico publicado en 2009

Identification and Characterization of New Variants in FOXRED1 Gene Expands the Clinical Spectrum Associated with Mitochondrial Complex I Deficiency

artículo científico publicado en 2019

Identification of a Novel Variant in EARS2 Associated with a Severe Clinical Phenotype Expands the Clinical Spectrum of LTBL

artículo científico publicado en 2020

Impaired mitochondrial complex I function as a candidate driver in the biological stress response and a concomitant stress-induced brain metabolic reprogramming in male mice

scientific article published on 01 June 2020

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

artículo científico publicado en 2012

In search of secreted protein biomarkers for the anti-inflammatory effect of beta2-adrenergic receptor agonists: application of DIGE technology in combination with multivariate and univariate data analysis tools.

artículo científico publicado en 2005

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

artículo científico publicado en 2015

Infantile Progressive Hepatoencephalomyopathy with Combined OXPHOS Deficiency due to Mutations in the Mitochondrial Translation Elongation Factor Gene GFM1.

artículo científico publicado en 2011

Inhibitory effects of the beta-adrenergic receptor agonist zilpaterol on the LPS-induced production of TNF-alpha in vitro and in vivo

artículo científico publicado en 2005

Investigating the cardiac pathology of SCO2-mediated hypertrophic cardiomyopathy using patients induced pluripotent stem cell-derived cardiomyocytes

artículo científico publicado en 2017

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

artículo científico publicado en 2008

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

artículo científico publicado en 2009

Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome

artículo científico publicado en 2012

Leigh disease with brainstem involvement in complex I deficiency due to assembly factor NDUFAF2 defect

artículo científico publicado en 2010

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

artículo científico publicado el 22 de diciembre de 2012

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

artículo científico publicado en 2006

Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD).

artículo científico publicado en 2016

Loss of Bardet-Biedl syndrome proteins causes synaptic aberrations in principal neurons

scientific article published on 03 September 2019

MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death

artículo científico publicado en 2016

MR spectroscopy and serial magnetic resonance imaging in a patient with mitochondrial cystic leukoencephalopathy due to complex I deficiency and NDUFV1 mutations and mild clinical course

artículo científico publicado en 2008

MR spectroscopy of the brain in Leigh syndrome

artículo científico publicado en 2008

MRPL44 mutations cause a slowly progressive multisystem disease with childhood-onset hypertrophic cardiomyopathy

artículo científico publicado en 2015

MRPS22 mutation causes fatal neonatal lactic acidosis with brain and heart abnormalities

artículo científico publicado en 2015

MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load

artículo científico publicado en 2018

Major depression in adolescent children consecutively diagnosed with mitochondrial disorder

artículo científico publicado en 2008

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

artículo científico publicado en 2006

Metabolic capacity of the diaphragm in patients with COPD.

artículo científico publicado en 2005

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

artículo científico publicado en 2012

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

artículo científico publicado en 2016

Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences

artículo científico publicado en 2017

Mining for mitochondrial mechanisms: linking known syndromes to mitochondrial function

artículo científico publicado en 2017

Mitochondrial ATP synthase: architecture, function and pathology.

artículo científico publicado en 2011

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

artículo científico publicado en 2012

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

artículo científico publicado en 2009

Mitochondrial complex I dysfunction and altered NAD(P)H kinetics in rat myocardium in cardiac right ventricular hypertrophy and failure.

artículo científico publicado en 2016

Mitochondrial complex I-linked disease

artículo científico publicado en 2016

Mitochondrial complex V expression and activity in cystinotic fibroblasts

artículo científico publicado en 2008

Mitochondrial disease criteria: Diagnostic applications in children

artículo científico publicado en 2006

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

artículo científico publicado en 2016

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

artículo científico publicado en 2010

Mitochondrial dysfunction in Brooks-Wisniewski-Brown syndrome

artículo científico publicado en 2006

Mitochondrial dysfunction in Stüve–Wiedemann syndrome in a patient carrying anND1 gene mutation

article

Mitochondrial dysfunction in a patient with Joubert syndrome

artículo científico publicado en 2005

Mitochondrial dysfunction in muscle tissue of complex regional pain syndrome type I patients

artículo científico publicado en 2011

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

artículo científico publicado en 2014

Mitochondrial energy production correlates with the age-related BMI.

artículo científico publicado en 2009

Mitochondrial enzymes discriminate between mitochondrial disorders and chronic fatigue syndrome

article

Modulation of oxidative phosphorylation and redox homeostasis in mitochondrial NDUFS4 deficiency via mesenchymal stem cells.

artículo científico publicado en 2017

Molecular base of biochemical complex I deficiency.

artículo científico

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

artículo científico publicado en 2006

Muscle 3243A-->G mutation load and capacity of the mitochondrial energy-generating system.

artículo científico publicado en 2008

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

artículo científico publicado en 2006

Mutated PET117 causes complex IV deficiency and is associated with neurodevelopmental regression and medulla oblongata lesions.

artículo científico publicado en 2017

Mutation in mitochondrial complex IV subunit COX5A causes pulmonary arterial hypertension, lactic acidemia, and failure to thrive

artículo científico publicado en 2017

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

artículo científico publicado el 29 de diciembre de 2010

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

artículo científico publicado en 2010

Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency

artículo científico publicado en 2014

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

artículo científico publicado en 2010

Mutations in COA6 cause cytochrome c oxidase deficiency and neonatal hypertrophic cardiomyopathy

scientific journal article

Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and Isolated Complex I Deficiency

scientific article published on 29 June 2016

Mutations in RARS cause hypomyelination

artículo científico publicado en 2014

Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis

artículo científico publicado en 2017

Mutations in mitochondrial complex I assembly factor NDUFAF3 cause Leigh syndrome

artículo científico publicado en 2016

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

artículo científico publicado en 2013

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

artículo científico publicado en 2012

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

artículo científico publicado en 2010

NDUFA2 complex I mutation leads to Leigh disease

artículo científico publicado en 2008

NDUFA9 point mutations cause a variable mitochondrial complex I assembly defect.

artículo científico publicado en 2017

NDUFAF4 variants are associated with Leigh syndrome and cause a specific mitochondrial complex I assembly defect

artículo científico publicado en 2017

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

artículo científico publicado en 2013

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

artículo científico publicado en 2012

New findings in a global approach to dissect the whole phenotype of PLA2G6 gene mutations

artículo científico publicado en 2013

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

artículo científico publicado en 2011

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

artículo científico publicado en 2008

Novel homozygous PCK1 mutation causing cytosolic phosphoenolpyruvate carboxykinase deficiency presenting as childhood hypoglycemia, an abnormal pattern of urine metabolites and liver dysfunction.

artículo científico publicado en 2017

Novel infantile-onset leukoencephalopathy with high lactate level and slow improvement.

artículo científico publicado en 2012

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

artículo científico publicado en 2010

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

artículo científico publicado en 2007

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

artículo científico publicado en 2018

Peripheral blood monocytes of rheumatoid arthritis patients do not express elevated TNF α, IL-1β, and IL-8 mRNA levels. A comparison of monocyte isolation procedures

artículo científico publicado en 1998

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

artículo científico

Phenylbutyrate increases pyruvate dehydrogenase complex activity in cells harboring a variety of defects.

artículo científico publicado en 2014

Postnatal liver-specific expression of human insulin-like growth factor-II is highly stimulated by the transcriptional activators liver-enriched activating protein and CCAAT/enhancer binding protein-alpha

artículo científico publicado en 1995

Primary skeletal muscle myoblasts from chronic heart failure patients exhibit loss of anti-inflammatory and proliferative activity.

artículo científico publicado en 2016

QIL1-dependent assembly of MICOS complex-lethal mutation in C19ORF70 resulting in liver disease and severe neurological retardation

artículo científico publicado en 2018

Quality of life, fatigue and mental health in patients with the m.3243A > G mutation and its correlates with genetic characteristics and disease manifestation

artículo científico publicado en 2016

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

artículo científico publicado en 2015

RARS2 Mutations: Is Pontocerebellar Hypoplasia Type 6 a Mitochondrial Encephalopathy?

artículo científico publicado en 2016

Recessive mutation in EXOSC3 associates with mitochondrial dysfunction and pontocerebellar hypoplasia

artículo científico publicado en 2017

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

scientific journal article

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

artículo científico publicado en 2016

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

artículo científico publicado en 2008

Respiratory chain complex I deficiency due to NDUFA12 mutations as a new cause of Leigh syndrome

artículo científico publicado en 2011

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

artículo científico publicado en 2007

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

article

Rheumatoid Arthritis is a Lining Cell Disease: An Evolving Concept.

artículo científico publicado en 1999

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

artículo científico publicado en 2015

SUCLA2 Deficiency: A Deafness-Dystonia Syndrome with Distinctive Metabolic Findings (Report of a New Patient and Review of the Literature).

artículo científico publicado en 2015

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

artículo científico publicado en 2007

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

artículo científico publicado en 2006

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

artículo científico publicado en 2010

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

artículo científico publicado en 2014

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

artículo científico publicado en 2015

Skeletal muscle ultrasonography in children with a dysfunction in the oxidative phosphorylation system

artículo científico publicado en 2006

Socio-emotional Problems in Children with CDG.

artículo científico publicado en 2013

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

artículo científico publicado en 2007

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

artículo científico publicado en 2015

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

artículo científico publicado en 2017

Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2 ⬇️

scientific journal article

Superinduction of interleukin 8 mRNA in activated monocyte derived macrophages from rheumatoid arthritis patients.

artículo científico publicado en 1999

TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation

scientific journal article

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

scientific journal article

The antiinflammatory drug sulfasalazine inhibits tumor necrosis factor α expression in macrophages by inducing apoptosis

artículo científico publicado en 2000

The first patient diagnosed with cytochrome c oxidase deficient Leigh syndrome: Progress report

artículo científico publicado en 2006

The functional genomics laboratory: functional validation of genetic variants

artículo científico publicado en 2018

The genotypic and phenotypic spectrum of MTO1 deficiency.

artículo científico publicado en 2017

The liver-specific promoter of the human insulin-like growth factor II gene is activated by CCAAT/enhancer binding protein (C/EBP).

artículo científico publicado en 1992

The liver-specific promoter of the human insulin-like growth factor-II gene contains two negative regulatory elements

artículo científico publicado en 1996

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

article

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

artículo científico publicado el 9 de marzo de 2012

The role of the mitochondrial ribosome in human disease: searching for mutations in 12S mitochondrial rRNA with high disruptive potential.

artículo científico publicado en 2013

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

artículo científico

Three families with 'de novo' m.3243A > G mutation

artículo científico publicado en 2016

Transcriptional Regulation of the Human IGF-II Gene

article

Transcriptional and post-transcriptional regulation of the human IGF-II gene expression.

artículo científico publicado en 1993

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

artículo científico publicado en 2011

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

artículo científico publicado en 2012

Unheated Cannabis sativa extracts and its major compound THC-acid have potential immuno-modulating properties not mediated by CB1 and CB2 receptor coupled pathways.

artículo científico publicado en 2005

Whole exome sequencing of suspected mitochondrial patients in clinical practice.

artículo científico publicado en 2015

X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy.

artículo científico publicado en 2007

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