List of works by Agnès Rötig

13 NDUFS4 mutations cause Leigh syndrome with predominant brainstem involvement

scholarly article by Esther Leshinsky et al published March 2010 in Mitochondrion

1H MRS spectroscopy evidence of cerebellar high lactate in mitochondrial respiratory chain deficiency.

scientific article published on 22 October 2007

3-Methylglutaconic aciduria associated with Pearson syndrome and respiratory chain defects

scientific article published on December 1, 1992

A common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiency

scientific article published on 23 October 2010

A constant and similar assembly defect of mitochondrial respiratory chain complex I allows rapid identification of NDUFS4 mutations in patients with Leigh syndrome.

scientific article

A high rate (20%-30%) of parental consanguinity in cytochrome-oxidase deficiency.

scientific article

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

scientific article published on 17 November 2012

A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure.

scientific article

A novel mutation in STXBP1 causing epileptic encephalopathy (late onset infantile spasms) with partial respiratory chain complex IV deficiency

scientific article published on 3 October 2013

A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of alpha-ketoglutarate dehydrogenase deficiency

scientific article (publication date: March 2005)

A novel mutation in the human complex I NDUFS7 subunit associated with Leigh syndrome.

scientific article

A novel mutation of the NDUFS7 gene leads to activation of a cryptic exon and impaired assembly of mitochondrial complex I in a patient with Leigh syndrome

scientific article

A novel recurrent mitochondrial DNA mutation in ND3 gene is associated with isolated complex I deficiency causing Leigh syndrome and dystonia

scientific article published on 01 January 2007

Absence of Relationship between the Level of Electron Transport Chain Activities and Aging in Human Skeletal Muscle

scientific article published on 01 December 1996

Activation of peroxisome proliferator-activated receptor pathway stimulates the mitochondrial respiratory chain and can correct deficiencies in patients' cells lacking its components

scientific article published on 22 January 2008

Acute infantile liver failure due to mutations in the TRMU gene.

scientific article published on September 2009

Another observation with VATER association and a complex IV respiratory chain deficiency

scientific article published in January 2006

Antenatal manifestations of mitochondrial respiratory chain deficiency

scientific article

Assay of mitochondrial respiratory chain complex I in human lymphocytes and cultured skin fibroblasts

scientific article published in January 2003

Assessment of the mitochondrial respiratory chain ⬇️

scientific article published on July 6, 1991

Author Correction: Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology

scientific article published on 19 October 2020

Beneficial effects of resveratrol on respiratory chain defects in patients' fibroblasts involve estrogen receptor and estrogen-related receptor alpha signaling

scientific article published on 23 December 2013

Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy

scientific journal article

Brain imaging in mitochondrial respiratory chain deficiency: combination of brain MRI features as a useful tool for genotype/phenotype correlations.

scientific article

CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures

scientific article

COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness

scientific article

Caenorhabditis elegans, a pluricellular model organism to screen new genes involved in mitochondrial genome maintenance.

scientific article published on 24 May 2010

Calcium signalling-dependent mitochondrial dysfunction and bioenergetics regulation in respiratory chain Complex II deficiency.

scientific article published on 21 May 2010

Cell complementation using Genebridge 4 human:rodent hybrids for physical mapping of novel mitochondrial respiratory chain deficiency genes.

scientific article published in December 2002

Coenzyme Q(10) and idebenone in the therapy of respiratory chain diseases: rationale and comparative benefits

scientific article

Coenzyme Q10 depletion is comparatively less detrimental to human cultured skin fibroblasts than respiratory chain complex deficiencies

scientific article

Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1).

scientific article published on 11 September 2009

Combined use of Saccharomyces cerevisiae, Caenorhabditis elegans and patient fibroblasts leads to the identification of clofilium tosylate as a potential therapeutic chemical against POLG-related diseases.

scientific article published on 21 December 2015

Complex I assembly function and fatty acid oxidation enzyme activity of ACAD9 both contribute to disease severity in ACAD9 deficiency.

scientific article published on 26 February 2015

Compound heterozygosity for severe and hypomorphic NDUFS2 mutations cause non-syndromic LHON-like optic neuropathy.

scientific article published on 28 December 2016

Cytochrome c oxidase deficiency presenting as recurrent neonatal myoglobinuria ⬇️

scientific article published on July 1, 1995

Data from artificial models of mitochondrial DNA disorders are not always applicable to humans

scientific article published in May 2014

Defects in Galactose Metabolism and Glycoconjugate Biosynthesis in a UDP-Glucose Pyrophosphorylase-Deficient Cell Line Are Reversed by Adding Galactose to the Growth Medium

scientific article published on 16 March 2020

Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy, and deafness (Wolfram syndrome, MIM 222300).

scientific article

Effect of idebenone on cardiomyopathy in Friedreich's ataxia: a preliminary study

scientific article published on 01 August 1999

Epileptic phenotypes in children with respiratory chain disorders

scientific article published on 19 February 2010

Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy

scientific article

Expressed sequence tag database screening for identification of human genes

scientific article

Expression study of genes involved in iron metabolism in human tissues

scientific article published on 01 March 2001

FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases

scientific article

Functional consequences of a SDHB gene mutation in an apparently sporadic pheochromocytoma

scientific article published in October 2002

Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing data

scientific article

Genetic bases of mitochondrial respiratory chain disorders

scientific article published on 21 January 2010

Genetic causes of mitochondrial DNA depletion in humans

scientific article published on 09 July 2009

Genetic features of mitochondrial respiratory chain disorders

scientific article published on December 2003

Genetics of mitochondrial respiratory chain deficiencies.

scientific article published on 03 May 2014

Genotyping microsatellite DNA markers at putative disease loci in inbred/multiplex families with respiratory chain complex I deficiency allows rapid identification of a novel nonsense mutation (IVS1nt -1) in the NDUFS4 gene in Leigh syndrome

scientific article (publication date: May 2003)

Haploinsufficiency of the GPD2 gene in a patient with nonsyndromic mental retardation

scientific article

Heart hypertrophy and function are improved by idebenone in Friedreich's ataxia

scientific article

High incidence and variable clinical outcome of cardiac hypertrophy due to ACAD9 mutations in childhood.

scientific article published on 16 December 2015

Human diseases with impaired mitochondrial protein synthesis

scientific article published on 25 June 2011

Idebenone treatment in Friedreich patients: one-year-long randomized placebo-controlled trial

scientific article published in February 2004

Impaired Transferrin Receptor Palmitoylation and Recycling in Neurodegeneration with Brain Iron Accumulation

scientific article published in February 2018

Inborn errors of complex II--unusual human mitochondrial diseases

scientific article

Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy

scientific article

Infantile and pediatric quinone deficiency diseases

scientific article published on 16 March 2007

Iron overload and mitochondrial diseases

scientific article published on 01 April 1998

Isolation and characterization of mitochondria from human B lymphoblastoid cell lines

scientific article published on July 15, 1992

Kearns-Sayre's syndrome developing in a boy who survived pearson's syndrome caused by mitochondrial DNA deletion

scientific article published on 01 January 1992

Leber's optic neuropathy: new diagnostic prospects

scientific article published on 01 January 1992

Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology

scientific article published on 11 September 2020

Massive and exclusive pontocerebellar damage in mitochondrial disease and NUBPL mutations.

scientific article published in July 2012

Maternal uniparental disomy of chromosome 2 in a patient with a DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome.

scientific article

Maternally inherited duplication of the mitochondrial genome in a syndrome of proximal tubulopathy, diabetes mellitus, and cerebellar ataxia ⬇️

scientific article published on February 1, 1992

Mitochondrial DNA deletion in an 8-year-old boy with Pearson syndrome

scientific article published on 01 January 1992

Mitochondrial DNA depletion is a prevalent cause of multiple respiratory chain deficiency in childhood

Mitochondrial ND5 mutations mimicking brainstem tectal glioma.

scientific article

Mitochondrial activities in human cultured skin fibroblasts contaminated by Mycoplasma hyorhinis

scientific article

Mitochondrial disorders

scientific article published in January 2009

Mitochondrial double-stranded RNA triggers antiviral signalling in humans

scientific article published in Nature

Mitochondrial respiratory chain complex assembly and function during human fetal development.

scientific article

Mitochondrial respiratory chain dysfunction caused by coenzyme Q deficiency

scientific article published on January 2004

Modeling of antigenomic therapy of mitochondrial diseases by mitochondrially addressed RNA targeting a pathogenic point mutation in mitochondrial DNA

scientific article

Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay

scientific article published on 26 April 2006

Molecular diagnostics of mitochondrial disorders

scientific article

Molecular insights into Friedreich's ataxia and antioxidant-based therapies

scientific article

Mouse models for mitochondrial diseases.

scientific article published on 21 June 2016

Multiple OXPHOS deficiency in the liver of a patient with CblA methylmalonic aciduria sensitive to vitamin B(12).

scientific article published on 13 March 2009

Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy

scientific article

Mutation dependance of the mitochondrial DNA copy number in the first stages of human embryogenesis.

scientific article

Mutation in PNPT1, which encodes a polyribonucleotide nucleotidyltransferase, impairs RNA import into mitochondria and causes respiratory-chain deficiency

scientific article

Mutation in the mitochondrial translation elongation factor EFTs results in severe infantile liver failure.

scientific article

Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion

scientific article

Mutations in C12orf62, a factor that couples COX I synthesis with cytochrome c oxidase assembly, cause fatal neonatal lactic acidosis

scientific 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 GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy

scientific article

Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy

scientific journal article

Mutations in mitochondrial ribosomal protein MRPL12 leads to growth retardation, neurological deterioration and mitochondrial translation deficiency

scientific article published on 18 April 2013

Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy

scientific article published on 28 October 2014

Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy.

scientific article

New SUCLG1 patients expanding the phenotypic spectrum of this rare cause of mild methylmalonic aciduria.

scientific article

New evidence of a mitochondrial genetic background paradox: impact of the J haplogroup on the A3243G mutation

scientific article

News in ubiquinone biosynthesis

scientific article published on 01 May 2010

No correlation between mtDNA amount and methylation levels at the CpG island of POLG exon 2 in wild-type and mutant human differentiated cells

scientific article published on 9 January 2017

Normal oxidative phosphorylation in intestinal smooth muscle of childhood chronic intestinal pseudo-obstruction

scientific article published on 14 September 2010

Novel FARS2 variants in patients with early onset encephalopathy with or without epilepsy associated with long survival

scientific article published on 09 November 2020

PRUNE1 Deficiency: Expanding the Clinical and Genetic Spectrum

Pearson syndrome: Altered tricarboxylic acid and urea‐cycle metabolites, adrenal insufficiency and corneal opacities ⬇️

scientific article published on 01 January 1993

Pearson's marrow-pancreas syndrome in 2 Turkish children

scientific article published on 01 January 1992

Pearson's syndrome: a multi-system disorder based on a mt-DNA deletion

scientific article published on December 1, 1991

Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia.

scientific article published on 17 December 2013

Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression

scientific article published on 28 October 2013

Pitfalls in molecular diagnosis of Friedreich ataxia.

scientific article published on 9 March 2018

Poor correlations in the levels of pathogenic mitochondrial DNA mutations in polar bodies versus oocytes and blastomeres in humans.

scientific article

Prenatal diagnosis of cytochrome c oxidase deficiency in cultured amniocytes is hazardous

scientific article published on 01 June 1992

Prenatal diagnosis of respiratory chain deficiency by direct mutation screening

Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders

scientific article

Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders

scientific article published on 11 July 2013

Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies

scientific article

Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies

article

Refractory epilepsy and mitochondrial dysfunction due to GM3 synthase deficiency

scientific article published on 19 September 2012

Renal disease and mitochondrial genetics.

scientific article

Respiratory chain deficiencies.

scientific article

Respiratory chain deficiency in Alpers syndrome.

scientific article published in June 2001

Respiratory chain deficiency in a female with Aicardi-Goutières syndrome

scientific article published in March 2006

Respiratory chain deficiency presenting as congenital nephrotic syndrome

scientific article published on 29 January 2005

Revisiting pitfalls, problems and tentative solutions for assaying mitochondrial respiratory chain complex III in human samples

scientific article published on January 2004

Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old gene

article

Secondary Mitochondrial Respiratory Chain Defect Can Delay Accurate PFIC2 Diagnosis.

scientific article published on 9 November 2013

Segregation of mitochondrial DNA mutations in the human placenta: implication for prenatal diagnosis of mtDNA disorders

scientific article

Selective iron chelation in Friedreich ataxia: biologic and clinical implications

scientific article published on 22 March 2007

Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients

scientific article

Sequence and structure of the human OXA1L gene and its upstream elements ⬇️

scientific article published on July 10, 1997

Spectrum of mitochondrial DNA rearrangements in the Pearson marrow-pancreas syndrome ⬇️

scientific article published on 01 August 1995

Succinate dehydrogenase and human diseases: new insights into a well-known enzyme

scientific article

The Consequences of a Mild Respiratory Chain Deficiency on Substrate Competitive Oxidation in Human Mitochondria ⬇️

scientific article published on July 30, 1997

The R22X mutation of the SDHD gene in hereditary paraganglioma abolishes the enzymatic activity of complex II in the mitochondrial respiratory chain and activates the hypoxia pathway

scientific article

The first founder DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome.

scientific article published on 27 March 2009

The human MSH5 (MutSHomolog 5) protein localizes to mitochondria and protects the mitochondrial genome from oxidative damage

scientific article published on 11 August 2012

The investigation of respiratory chain disorders in heart using endomyocardial biopsies ⬇️

scientific article published on 01 January 1993

The regulation of PTC containing transcripts of the human NDUFS4 gene of complex I of respiratory chain and the impact of pathological mutations

article

The spectrum of systemic involvement in adults presenting with renal lesion and mitochondrial tRNA(Leu) gene mutation

scientific article published in August 2003

Toward genotype phenotype correlations in GFM1 mutations.

scientific article published on October 2011

Tubulopathy and pancytopaenia with normal pancreatic function: a variant of Pearson syndrome

scientific article

Twinkle helicase(PEO1)gene mutation causes mitochondrial DNA depletion

article

Unusual clinical expression and long survival of a pseudouridylate synthase (PUS1) mutation into adulthood

scientific article published on 17 September 2014

Variable outcome of growth hormone administration in respiratory chain deficiency

scientific article published on 22 October 2007

Yeast as a system for modeling mitochondrial disease mechanisms and discovering therapies

scientific article published on June 2015

[Aspect of brain MRI in mitochondrial respiratory chain deficiency. A diagnostic algorithm of the most common mitochondrial genetic mutations].

scientific article

[Mitochondrial genome instability and associated diseases]

scientific article published on 01 February 2010

[mtDNA mutator mice: an ageing model].

scientific article

[p53R2 : DNA repair or mitochondrial DNA synthesis?].

scientific article

Paulina is supported by:

About Paulina

Help