A. Rötig

发表

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

A. Munnich, P. Rustin, A. Rötig, 2002, European Journal of Human Genetics.

Phenotypic diversity of brain MRI patterns in mitochondrial aminoacyl-tRNA synthetase mutations.

A. Munnich, N. Boddaert, A. Rötig, 2021, Molecular genetics and metabolism.

MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion

Sarah Calvo, Paolo Gasparini, Massimo Zeviani, 2006, Nature Genetics.

Improving post-natal detection of mitochondrial DNA mutations

A. Munnich, A. Rötig, J. Steffann, 2020, Expert review of molecular diagnostics.

Selective iron chelation in Friedreich ataxia: biologic and clinical implications.

Nathalie Boddaert, Arnold Munnich, Francis Brunelle, 2007, Blood.

Genetic diagnosis of Mendelian disorders via RNA sequencing

Thomas Meitinger, Gabi Kastenmüller, Jerzy Adamski, 2017, Nature Communications.

Genetic diagnosis of Mendelian disorders via RNA sequencing

Robert W. Taylor, Daniel M Bader, J. Gagneur, 2017, Nature Communications.

Mouse models for mitochondrial diseases.

A. Rötig, Metodi D. Metodiev, Benedetta Ruzzenente, 2016, Human molecular genetics.

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

P. Bauer, A. Rötig, H. Kayserili, 2020, Nature Communications.

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

Robert W. Taylor, H. Prokisch, A. Rötig, 2014, Orphanet Journal of Rare Diseases.

Cytochrome oxidase in health and disease.

P. Rustin, A. Rötig, A. Barrientos, 2002, Gene.

Inborn errors of the Krebs cycle: a group of unusual mitochondrial diseases in human.

T. Bourgeron, A. Munnich, P. Rustin, 1997, Biochimica et biophysica acta.

Renal disease and mitochondrial genetics.

A. Rötig, 2003, Journal of nephrology.

Point mutation of the mitochondrial tRNA(Leu) gene (A 3243 G) in maternally inherited hypertrophic cardiomyopathy, diabetes mellitus, renal failure, and sensorineural deafness.

A. Munnich, A. Rötig, J. Grünfeld, 1995, Journal of medical genetics.

Coenzyme Q 10 Depletion is Comparatively Less Detrimental to Human Cultured Skin Fibroblasts than Respiratory Chain Complex Deficiencies

A. Munnich, P. Rustin, A. Rötig, 2002, Free radical research.

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

A. Munnich, N. Boddaert, F. Brunelle, 2014, Journal of Medical Genetics.

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

A. Munnich, N. Boddaert, F. Brunelle, 2014, Revue neurologique.

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

A. Munnich, N. Boddaert, A. Rötig, 2010, Mitochondrion.

Genetic causes of mitochondrial DNA depletion in humans.

A. Rötig, J. Poulton, 2009, Biochimica et biophysica acta.

The neurogenic weakness, ataxia and retinitis pigmentosa (NARP) syndrome mtDNA mutation (T8993G) triggers muscle ATPase deficiency and hypocitrullinaemia

A. Munnich, P. Rustin, A. Rötig, 1999, European Journal of Pediatrics.

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

A. Munnich, A. Rötig, J. Martinovic, 2008, Molecular genetics and metabolism.

NDUFS4 mutations cause Leigh syndrome with predominant brainstem involvement.

A. Munnich, E. Leshinsky‐Silver, D. Lev, 2009, Molecular genetics and metabolism.

Antenatal manifestations of mitochondrial respiratory chain deficiency.

A. Munnich, F. Brunelle, P. Rustin, 2003, The Journal of pediatrics.

Cytochrome c oxidase assay in minute amounts of human skeletal muscle using single wavelength spectrophotometers

Ò. Miró, P. Rustin, A. Rötig, 1998, Journal of Neuroscience Methods.

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

A. Munnich, P. Rustin, A. Rötig, 1992, American journal of human genetics.

Neonatal and delayed-onset liver involvement in disorders of oxidative phosphorylation.

A. Munnich, P. Rustin, A. Rötig, 1997, The Journal of pediatrics.

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

A. Munnich, A. Rötig, D. Bacq, 2007, The Journal of clinical investigation.

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

A. Munnich, N. Boddaert, A. Rötig, 2012, American journal of human genetics.

Persistent mitochondrial dysfunction and perinatal exposure to antiretroviral nucleoside analogues

P. Rustin, A. Rötig, C. Lacroix, 1999, The Lancet.

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

A. Munnich, D. Galanaud, N. Boddaert, 2010, Journal of Medical Genetics.

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

A. Munnich, A. Rötig, P. de Lonlay, 2012, Journal of hepatology.

Respiratory chain deficiency presenting as congenital nephrotic syndrome

A. Munnich, P. Rustin, A. Rötig, 2005, Pediatric Nephrology.

[Mitochondrial cytopathies].

A. Rötig, 1996, Pathologie-biologie.

Mitochondrial respiratory chain dysfunction caused by coenzyme Q deficiency.

A. Munnich, P. Rustin, A. Rötig, 2004, Methods in enzymology.

Refractory epilepsy and mitochondrial dysfunction due to GM3 synthase deficiency

A. Rötig, V. Desquiret-Dumas, V. Procaccio, 2012, European Journal of Human Genetics.

Absence of relationship between the level of electron transport chain activities and aging in human skeletal muscle.

Ò. Miró, P. Rustin, A. Rötig, 1996, Biochemical and biophysical research communications.

High predictive value of brain MRI imaging in primary mitochondrial respiratory chain deficiency

A. Munnich, N. Boddaert, A. Rötig, 2018, Journal of Medical Genetics.

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

H. Mandel, A. Rötig, Ann Saada, 2009, American journal of human genetics.

The investigation of respiratory chain disorders in heart using endomyocardial biopsies

T. Bourgeron, A. Munnich, P. Rustin, 1993, Journal of Inherited Metabolic Disease.

Cerebral white matter disease in children may be caused by mitochondrial respiratory chain deficiency.

A. Munnich, L. Hertz-Pannier, F. Brunelle, 2000, The Journal of pediatrics.

Inherited palmoplantar keratoderma and sensorineural deafness associated with A7445G point mutation in the mitochondrial genome

A. Rötig, A. Toutain, L. Vaillant, 2000, The British journal of dermatology.

Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy.

Robert W. Taylor, M. Minczuk, E. Bertini, 2014, American journal of human genetics.

DELETION OF BLOOD MITOCHONDRIAL DNA IN PANCYTOPENIA

A. Fischer, F. Deist, A. Munnich, 1988, The Lancet.

Molecular diagnostics of mitochondrial disorders.

A. Munnich, A. Rötig, E. Sarzi, 2004, Biochimica et biophysica acta.

Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders

Marni J. Falk, A. Rötig, I. Durand-zaleski, 2013, Journal of Medical Genetics.

Epileptic phenotypes in children with respiratory chain disorders

A. Munnich, N. Boddaert, A. Rötig, 2010, Epilepsia.

Infantile and pediatric quinone deficiency diseases.

A. Munnich, A. Rötig, M. Rio, 2007, Mitochondrion.

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

I. D. de Coo, H. Smeets, V. Tiranti, 2013, Mitochondrion.

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

A. Munnich, P. Rustin, A. Rötig, 2006, European journal of medical genetics.

Clinical aspects of mitochondrial disorders

A. Munnich, P. Rustin, A. Rötig, 1992, Journal of Inherited Metabolic Disease.

Mitochondrial diabetes mellitus.

A. Munnich, A. Rötig, J. Bonnefont, 1996, Diabetes & metabolism.

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

A. Munnich, H. Prokisch, A. Rötig, 2015, European Journal of Human Genetics.

News in ubiquinone biosynthesis.

A. Rötig, 2010, Chemistry & biology.

CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures.

A. Munnich, N. Boddaert, A. Rötig, 2008, American journal of human genetics.

Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25

P. Lockhart, A. Durr, E. Storey, 2022, Annals of neurology.

Liver cytochrome c oxidase deficiency in a case of neonatal-onset hepatic failure

A. Munnich, P. Rustin, A. Rötig, 1994, European Journal of Pediatrics.

3-Methylglutaconic aciduria in a patient with Pearson syndrome

A. Munnich, A. Rötig, H. Bremer, 1993, European Journal of Pediatrics.

Nonsense mutations in the COX1 subunit impair the stability of respiratory chain complexes rather than their assembly

M. Hellmich, A. Rötig, T. Tatsuta, 2012, The EMBO journal.

An autosomal locus predisposing to multiple deletions of mtDNA on chromosome 3p.

L. Peltonen, J. Weissenbach, G. Comi, 1996, American journal of human genetics.

NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy.

H. Prokisch, S. Hanein, A. Rötig, 2018, American journal of human genetics.

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

P. Bénit, A. Munnich, P. Rustin, 2003, Human mutation.

Identification of New Genes Involved in mtDNA Maintenance in Caenorhabditis elegans that could Represent Candidate Genes for Mitochondrial Diseases

A. Rötig, A. Delahodde, M. Addo, 2016 .

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

P. Rustin, A. Rötig, X. Jeunemaître, 2002, The Journal of clinical endocrinology and metabolism.

Variants in the MIPEP gene presenting with complex neurological phenotype without cardiomyopathy, impair OXPHOS protein maturation and lead to a reduced OXPHOS abundance in patient cells.

A. Munnich, N. Boddaert, A. Rötig, 2021, Molecular genetics and metabolism.

Biochemical, genetic and immunoblot analyses of 17 patients with an isolated cytochrome c oxidase deficiency.

A. Munnich, P. Rustin, A. Rötig, 1999, Biochimica et biophysica acta.

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

A. Rötig, A. Katz, M. Ermonval, 2020, International journal of molecular sciences.

Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy.

R. Redon, A. Rötig, G. Ravenscroft, 2016, American journal of human genetics.

Mitochondrial Complex I Deficiency in Humans

P. Bénit, P. Rustin, A. Rötig, 2004 .

Biochemical and molecular investigations in respiratory chain deficiencies.

T. Bourgeron, A. Munnich, P. Rustin, 1994, Clinica chimica acta; international journal of clinical chemistry.

Secondary Mitochondrial Respiratory Chain Defect Can Delay Accurate PFIC2 Diagnosis.

A. Rötig, A. Slama, E. Jacquemin, 2014, JIMD reports.

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

A. Munnich, A. Rötig, C. Guillermet, 2012, Biochimica et biophysica acta.

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

A. Munnich, N. Boddaert, A. Rötig, 2011, Neurogastroenterology and motility : the official journal of the European Gastrointestinal Motility Society.

Multiple OXPHOS deficiency in the liver of a patient with CblA methylmalonic aciduria sensitive to vitamin B12

A. Munnich, A. Rötig, D. Rabier, 2009, Journal of Inherited Metabolic Disease.

Variable outcome of growth hormone administration in respiratory chain deficiency.

A. Munnich, M. Polak, A. Rötig, 2008, Molecular genetics and metabolism.

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.

A. Munnich, A. Rötig, J. Steffann, 2007, Molecular genetics and metabolism.

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

A. Munnich, A. Rötig, V. Cormier-Daire, 2007, The Journal of pediatrics.

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

A. Munnich, A. Rötig, D. Rodriguez, 2007, Molecular genetics and metabolism.

Deoxyguanosine kinase mutations and combined deficiencies of the mitochondrial respiratory chain in patients with hepatic involvement.

A. Munnich, P. Rustin, A. Rötig, 2005, Molecular genetics and metabolism.

Clinical presentations and laboratory investigations in respiratory chain deficiency

A. Munnich, P. Rustin, A. Rötig, 1996, European Journal of Pediatrics.

Nicotinamide adenine dinucleotides permeate through mitochondrial membranes in human Epstein-Barr virus-transformed lymphocytes

A. Munnich, P. Rustin, A. Rötig, 1997, Molecular and Cellular Biochemistry.

Mitochondrial activities in human cultured skin fibroblasts contaminated by Mycoplasma hyorhinis

A. Munnich, P. Rustin, A. Rötig, 2003, BMC Biochemistry.

Determination of enzyme activities for prenatal diagnosis of respiratory chain deficiency

A. Munnich, P. Rustin, A. Rötig, 2000 .

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

A. Munnich, P. Rustin, A. Rötig, 1998, American journal of human genetics.

An improved spectrophotometric assay of pyruvate dehydrogenase in lactate dehydrogenase contaminated mitochondrial preparations from human skeletal muscle.

T. Bourgeron, A. Munnich, P. Rustin, 1995, Clinica chimica acta; international journal of clinical chemistry.

Cytochrome c oxidase deficiency presenting as recurrent neonatal myoglobinuria

A. Munnich, P. Rustin, A. Rötig, 1995, Neuromuscular Disorders.

Expression of respiratory chain deficiencies in human cultured cells

T. Bourgeron, A. Munnich, P. Rustin, 1993, Neuromuscular Disorders.

Investigation of respiratory chain activity in human heart.

T. Bourgeron, A. Munnich, P. Rustin, 1993, Biochemical medicine and metabolic biology.

Isolation and characterization of mitochondria from human B lymphoblastoid cell lines.

A. Munnich, P. Rustin, A. Rötig, 1992, Biochemical and biophysical research communications.

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

T. Bourgeron, A. Munnich, P. Rustin, 1992, Prenatal diagnosis.

The measurement of the rotenone-sensitive NADH cytochrome c reductase activity in mitochondria isolated from minute amount of human skeletal muscle.

T. Bourgeron, A. Munnich, P. Rustin, 1990, Biochemical and biophysical research communications.

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

A. Munnich, D. Seidenwurm, N. Boddaert, 2008, Molecular genetics and metabolism.

Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.

R. Ganetzky, H. Prokisch, E. Eklund, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Fate and expression of the deleted mitochondrial DNA differ between human heteroplasmic skin fibroblast and Epstein-Barr virus-transformed lymphocyte cultures.

T. Bourgeron, A. Munnich, P. Rustin, 1993, The Journal of biological chemistry.

Mitochondrial biogenesis and development of respiratory chain enzymes in kidney cells: role of glucocorticoids.

P. Rustin, A. Rötig, T. Gilbert, 1994, The American journal of physiology.

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

T. Bourgeron, A. Munnich, P. Rustin, 1995, Human molecular genetics.

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

Robert W. Taylor, A. Munnich, H. Prokisch, 2015, Human molecular genetics.

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

A. Munnich, G. Rutter, A. Rötig, 2010, Cell Death and Differentiation.

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency

T. Wieland, A. Munnich, H. Smeets, 2018 .

Heterogeneity of PNPT1 neuroimaging: mitochondriopathy, interferonopathy or both?

A. Munnich, N. Boddaert, A. Rötig, 2020, Journal of Medical Genetics.

The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency

Robert W. Taylor, A. Rötig, N. Hauser, 2019, Genetics in Medicine.

[Mitochondrial disorders].

A. Munnich, P. Rustin, A. Rötig, 2009, Bulletin de l'Academie nationale de medecine.

Clinical presentation of mitochondrial disorders in childhood

T. Bourgeron, A. Munnich, P. Rustin, 1996, Journal of Inherited Metabolic Disease.

Neonatal gene therapy achieves sustained disease rescue of maple syrup urine disease in mice

A. Rötig, P. de Lonlay, F. Mingozzi, 2022, Nature Communications.

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

A. Munnich, M. Clanet, D. Wallace, 2007, European Journal of Human Genetics.

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

A. Munnich, M. Clanet, D. Wallace, 2006, European Journal of Human Genetics.

Macular dystrophy, diabetes, and deafness associated with a large mitochondrial DNA deletion.

A. Munnich, E. Souied, A. Rötig, 1998, American journal of ophthalmology.

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

A. Fischer, A. Munnich, A. Rötig, 2009, European journal of medical genetics.

Prenatal diagnosis of myopathy, encephalopathy, lactic acidosis, and stroke-like syndrome: contribution to understanding mitochondrial DNA segregation during human embryofetal development

A. Munnich, A. Rötig, A. Benachi, 2006, Journal of Medical Genetics.

Hepatic mitochondrial DNA deletion in alcoholics: association with microvesicular steatosis.

A. Rötig, D. Pessayre, B. Fromenty, 1995, Gastroenterology.

Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy.

F. Ledeist, P. Rustin, A. Rötig, 1990, The Journal of clinical investigation.

Hair and skin disorders as signs of mitochondrial disease.

C. Bodemer, A. Munnich, P. Rustin, 1999, Pediatrics.

Pearson Syndrome in the Neonatal Period: Two Case Reports and Review of the Literature

A. Munnich, A. Rötig, A. Lèbre, 2009, Journal of pediatric hematology/oncology.

Mitochondrial double-stranded RNA triggers antiviral signalling in humans

A. Munnich, M. Teitell, Y. Crow, 2018, Nature.

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

A. Munnich, P. Rustin, A. Rötig, 1993, The Journal of clinical investigation.

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

Arnold Munnich, Aleksandra Filipovska, Patrick F Chinnery, 2016, American journal of human genetics.

[Pearson's syndrome. Pancytopenia with exocrine pancreatic insufficiency: new mitochondrial disease in the first childhood].

A. Rötig, O. Goulet, S. Blanche, 1991, Archives francaises de pediatrie.

Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency

Thomas Bourgeron, Arnold Munnich, T. Bourgeron, 1995, Nature Genetics.

Evidence of diaphragmatic dysfunction with severe alveolar hypoventilation syndrome in mitochondrial respiratory chain deficiency

A. Munnich, N. Boddaert, A. Rötig, 2020, Neuromuscular Disorders.

Twinkle helicase (PEO1) gene mutation causes mitochondrial DNA depletion

A. Munnich, A. Rötig, J. N. Spelbrink, 2007, Annals of neurology.

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

Yusuke Nakamura, Véronique Paquis-Flucklinger, Arnold Munnich, 2007, Nature Genetics.

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

A. Munnich, N. Boddaert, A. Rötig, 2009, Molecular genetics and metabolism.

Bi-Allelic UQCRFS1 Variants Are Associated with Mitochondrial Complex III Deficiency, Cardiomyopathy, and Alopecia Totalis.

Vicente A. Yépez, H. Prokisch, R. Rodenburg, 2019, American journal of human genetics.

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

A. Munnich, P. Rustin, A. Rötig, 2001, Nature Genetics.

Renal involvement in mitochondrial cytopathies

A. Rötig, P. Niaudet, 1996, Pediatric Nephrology.

Deletion of the mitochondrial DNA in a case of de Toni-Debré-Fanconi syndrome and Pearson syndrome

A. Munnich, A. Rötig, M. Gubler, 1994, Pediatric Nephrology.

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

A. Munnich, P. Rustin, A. Rötig, 2004, Neurology.

Idebenone and reduced cardiac hypertrophy in Friedreich's ataxia

A. Munnich, P. Rustin, A. Rötig, 2002, Heart.

Heart Hypertrophy and Function Are Improved by Idebenone in Friedreich's Ataxia

A. Munnich, P. Rustin, A. Rötig, 2002, Free radical research.

Defective palmitoylation of transferrin receptor triggers iron overload in Friedreich's ataxia fibroblasts.

A. Munnich, A. Rötig, O. Hermine, 2021, Blood.

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

Olivier Sterkers, Fanny Mochel, Patrick Nitschke, 2017, American journal of human genetics.

Clinical implementation of RNA sequencing for Mendelian disease diagnostics

Robert W. Taylor, Vicente A. Yépez, J. Gagneur, 2021, Genome Medicine.

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

E. Shoubridge, H. Antonicka, A. Rötig, 2012, American journal of human genetics.

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

A. Munnich, A. Rötig, F. Djouadi, 2008, The Journal of clinical endocrinology and metabolism.

A mutation in the human heme A:farnesyltransferase gene (COX10 ) causes cytochrome c oxidase deficiency.

A. Munnich, P. Rustin, A. Rötig, 2000, Human molecular genetics.

Mutations in SURF1 are not specifically associated with Leigh syndrome

E. Shoubridge, A. Munnich, P. Rustin, 2001, Journal of medical genetics.

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

A. Munnich, P. Rustin, A. Rötig, 2000, American journal of human genetics.

COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness.

V. Pertegato, Y. Raphael, H. Prokisch, 2011, The Journal of clinical investigation.

Genetic features of mitochondrial respiratory chain disorders.

A. Munnich, A. Rötig, 2003, Journal of the American Society of Nephrology : JASN.

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

P. Bénit, G. Gyapay, J. Weissenbach, 2002, Human molecular genetics.

Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency.

P. Bénit, A. Munnich, P. Rustin, 2001, American journal of human genetics.

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

A. Rötig, J. Ricci, S. Bannwarth, 2012, Mitochondrion.

Superoxide-induced massive apoptosis in cultured skin fibroblasts harboring the neurogenic ataxia retinitis pigmentosa (NARP) mutation in the ATPase-6 gene of the mitochondrial DNA.

A. Munnich, P. Rustin, A. Rötig, 2001, Human molecular genetics.

Modeling of Antigenomic Therapy of Mitochondrial Diseases by Mitochondrially Addressed RNA Targeting a Pathogenic Point Mutation in Mitochondrial DNA*

A. Munnich, A. Venyaminova, A. Rötig, 2014, The Journal of Biological Chemistry.

Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome

P. Bénit, A. Munnich, P. Rustin, 2004, Journal of Medical Genetics.

Mutation of the fumarase gene in two siblings with progressive encephalopathy and fumarase deficiency.

A. Munnich, P. Rustin, A. Rötig, 1994, The Journal of clinical investigation.

Aconitase and mitochondrial iron–sulphur protein deficiency in Friedreich ataxia

A. Munnich, F. Foury, M. Koenig, 1997, Nature Genetics.

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.

P. Rustin, A. Rötig, X. Jeunemaître, 2001, American journal of human genetics.

Biochemical parameters for the diagnosis of mitochondrial respiratory chain deficiency in humans, and their lack of age-related changes.

A. Munnich, P. Rustin, A. Rötig, 1998, The Biochemical journal.

Endomyocardial biopsies for early detection of mitochondrial disorders in hypertrophic cardiomyopathies.

T. Bourgeron, A. Munnich, P. Rustin, 1994, The Journal of pediatrics.

Heart transplantation in children with mitochondrial cardiomyopathy

A. Munnich, P. Rustin, A. Rötig, 2022 .

PPA2 gene is involved in neonatal fatal acute dilated cardiomyopathy

A. Rötig, S. Lyonnet, J. Amiel, 2018, Archives of Cardiovascular Diseases Supplements.

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

L. Steinmetz, Raeka S. Aiyar, A. Glatigny, 2015, Disease Models & Mechanisms.

Mutations in the MRPS28 gene encoding the small mitoribosomal subunit protein bS1m in a patient with intrauterine growth retardation, craniofacial dysmorphism and multisystemic involvement

A. Munnich, N. Boddaert, A. Rötig, 2018, Human molecular genetics.

Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex Deficiencies.

Alexander Hoischen, Arnold Munnich, Ron A Wevers, 2018, American journal of human genetics.

Integration of proteomics with genomics and transcriptomics increases the diagnostic rate of Mendelian disorders

Vicente A. Yépez, J. Gagneur, T. Meitinger, 2021, medRxiv.

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

Arnold Munnich, Aleksandra Filipovska, Patrick F Chinnery, 2016, American journal of human genetics.

PRUNE1 Deficiency: Expanding the Clinical and Genetic Spectrum

T. Meitinger, T. Strom, H. Prokisch, 2018, Neuropediatrics.

Biallelic mutations in the SARS2 gene presenting as congenital sideroblastic anemia

A. Rötig, L. D. Da Costa, O. Hermine, 2021, Haematologica.

Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.

Sander M Houten, Eric E Schadt, Nathalie Boddaert, 2017, American journal of human genetics.

A case of Pearson syndrome associated with multiple renal cysts

A. Rötig, A. Bakkaloğlu, A. Gürgey, 1996, Pediatric Nephrology.

Pearson's marrow-pancreas syndrome in 2 Turkish children.

A. Rötig, A. Gürgey, Ç. Altay, 1992, Acta haematologica.

Diagnosing pediatric mitochondrial disease: lessons from 2,000 exomes

Robert W. Taylor, Vicente A. Yépez, J. Gagneur, 2021, medRxiv.

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

Robert W. Taylor, J. Gagneur, E. Génin, 2016, American journal of human genetics.

Three human aminoacyl-tRNA synthetases have distinct sub-mitochondrial localizations that are unaffected by disease-associated mutations

A. Munnich, A. Rötig, Florian Pierre, 2018, The Journal of Biological Chemistry.

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

A. Rötig, K. Bärlocher, H. Simonsz, 1992, Documenta Ophthalmologica.

Inhibition of mitochondrial translation in fibroblasts from a patient expressing the KARS p.(Pro228Leu) variant and presenting with sensorineural deafness, developmental delay, and lactic acidosis

A. Munnich, N. Boddaert, A. Rötig, 2018, Human mutation.

Reference charts for respiratory chain activities in human tissues.

T. Bourgeron, A. Munnich, P. Rustin, 1994, Clinica chimica acta; international journal of clinical chemistry.

DMM020438 509..526

L. Steinmetz, Raeka S. Aiyar, A. Glatigny, 2015 .

Genetics of mitochondrial respiratory chain deficiencies.

A. Rötig, 2014, Revue neurologique.

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

A. Rötig, K. Obiri-Danso, A. Delahodde, 2010, Biochimica et biophysica acta.

Genetic bases of mitochondrial respiratory chain disorders.

A. Rötig, 2010, Diabetes & metabolism.

Unusual presentation of Kearns-Sayre syndrome in early childhood.

A. Rötig, M. Mikati, E. Touma, 1999, Pediatric neurology.

Respiratory chain deficiencies.

A. Rötig, P. Delonlay, H. Sarnat, 2013, Handbook of clinical neurology.

Human diseases with impaired mitochondrial protein synthesis.

A. Rötig, 2011, Biochimica et biophysica acta.

Quinone-responsive multiple respiratory-chain dysfunction due to widespread coenzyme Q10 deficiency

A. Munnich, P. Rustin, A. Rötig, 2000, The Lancet.

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

A. Munnich, P. Rustin, A. Rötig, 1999, The Lancet.

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

A. Munnich, N. Boddaert, A. Rötig, 2013, Biochimica et biophysica acta.

Homologous and heterologous expression of a ribosomal protein gene in Podospora anserina requires an intron

A. Rötig, M. Déquard-Chablat, 1997, Molecular and General Genetics MGG.

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

Arnold Munnich, A. Munnich, P. Rustin, 2005, Human mutation.

Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy

V. Beneš, A. Munnich, N. Boddaert, 2011, Human mutation.

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

H. Smeets, H. Prokisch, R. Wanders, 2011, Brain : a journal of neurology.

Does polyribonucleotide nucleotidyltransferase (PNPase) mutation affect the energetic metabolism and the microRNA profile in cell and mitochondria

E. Barrey, A. Rötig, L. Moyec, 2016 .

Duplications of mitochondrial DNA in Kearns–Sayre syndrome

A. Rötig, K. Morten, J. Poulton, 1995, Muscle & nerve. Supplement.

Mitochondrial DNA inheritance in patients with deleted mtDNA

T. Bourgeron, A. Munnich, P. Rustin, 2001 .

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

P. Bénit, A. Munnich, P. Rustin, 2002, Molecular genetics and metabolism.

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

A. Rötig, P. Vourc'h, C. Andres, 2008, Human Genetics.

Iron overload and mitochondrial diseases

A. Munnich, P. Rustin, A. Rötig, 1998, The Lancet.

Two sibs with myoclonic epilepsy, congenital deafness, macular dystrophy, and psychiatric disorders.

A. Mégarbané, J. Loiselet, A. Rötig, 1999, American journal of medical genetics.

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

A. Munnich, V. Petruzzella, A. Rötig, 2008, Biochimie.

Compound heterozygous mutations in the flavoprotein gene of the respiratory chain complex II in a patient with Leigh syndrome

A. Munnich, P. Rustin, A. Rötig, 2000, Human Genetics.

Compound heterozygous mutations in the flavoprotein gene of the respiratory chain complex II in a patient with Leigh syndrome.

A. Munnich, P. Rustin, A. Rötig, 2000 .

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

P. Rustin, A. Rötig, G. Choukroun, 2003, Journal of the American Society of Nephrology : JASN.

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

A. Munnich, N. Boddaert, A. Rötig, 2018, American journal of human genetics.

Respiratory chain deficiency presenting as recurrent myoglobinuria in childhood.

A. Munnich, P. Rustin, A. Rötig, 1999, Neuropediatrics.

[Metabolic and genetic investigations in childhood cardiomyopathies].

A. Munnich, P. Rustin, A. Rötig, 1999, Archives des maladies du coeur et des vaisseaux.

implications Selective iron chelation in Friedreich ataxia. Biological and clinical

A. Munnich, A. Rötig, J. Thalabard, 2012 .

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

A. Munnich, N. Boddaert, A. Rötig, 2014, Journal of Medical Genetics.

A retrospective study on the efficacy of prenatal diagnosis for pregnancies at risk of mitochondrial DNA disorders

A. Munnich, Y. Ville, A. Rötig, 2020, Genetics in Medicine.

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

A. Munnich, A. Rötig, C. Bole-Feysot, 2012, Molecular genetics and metabolism.

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

A. Munnich, P. Rustin, A. Rötig, 2002, Trends in molecular medicine.

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.

A. Rötig, A. Delahodde, E. Baruffini, 2016, Human molecular genetics.

Investigation of yeast genes possibly involved in mtDNA stability using the nematode Caenorhabditis elegans

A. Rötig, K. Obiri-Danso, A. Delahodde, 2016 .

Craniofacial anomalies and malformations in respiratory chain deficiency.

A. Munnich, P. Rustin, A. Rötig, 1996, American journal of medical genetics.

Biallelic IARS2 mutations presenting as sideroblastic anemia

A. Munnich, N. Boddaert, A. Rötig, 2020, Haematologica.

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

A. Munnich, A. Rötig, B. Bader-Meunier, 2014, European Journal of Human Genetics.

Toward genotype phenotype correlations in GFM1 mutations.

A. Munnich, N. Boddaert, A. Rötig, 2012, Mitochondrion.

Fluxes of Nicotinamide Adenine Dinucleotides through Mitochondrial Membranes in Human Cultured Cells*

T. Bourgeron, A. Munnich, P. Rustin, 1996, The Journal of Biological Chemistry.

Sequence variations in the NDUFA1 gene encoding a subunit of complex I of the respiratory chain

A. Munnich, G. Brown, M. Zeviani, 2001, Journal of Inherited Metabolic Disease.

A mitochondrial cytochrome b mutation but no mutations of nuclearly encoded subunits in ubiquinol cytochrome c reductase (complex III) deficiency

A. Munnich, P. Rustin, A. Rötig, 1999, Human Genetics.

Widespread multi-tissue deletions of the mitochondrial genome in the Pearson marrow-pancreas syndrome.

A. Munnich, A. Rötig, J. Saudubray, 1990, The Journal of pediatrics.

Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency

P. Bénit, A. Munnich, L. Hertz-Pannier, 2003, Journal of medical genetics.

The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency

P. Bénit, A. Munnich, L. Hertz-Pannier, 2003, Journal of medical genetics.

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

P. Bénit, A. Munnich, P. Rustin, 2003, Human Genetics.

Novel NDUFA12 variants are associated with isolated complex I defect and variable clinical manifestation

E. Bertini, R. Carrozzo, H. Prokisch, 2021, Human mutation.

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

Ulrich Brandt, Sergio Guerrero-Castillo, Benoît Funalot, 2016, American journal of human genetics.

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

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

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

A. Munnich, P. Rustin, A. Rötig, 1997, Biochimica et biophysica acta.

Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9

T. Meitinger, V. Tiranti, M. Zeviani, 2011, Journal of Medical Genetics.

Cytochrome c oxidase deficiency caused by biallelic SCO2 mutations in two sibs with cerebellar ataxia and progressive peripheral axonal neuropathy

A. Munnich, N. Boddaert, A. Rötig, 2019, Molecular genetics and metabolism reports.

Revisiting Pitfalls, Problems and Tentative Solutions for Assaying [General Articles] Mitochondrial Respiratory Chain Complex III in Human Samples

A. Munnich, P. Rustin, A. Rötig, 2004 .

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

H. Simonsz, A. Rötig, K. Baerlocher, 1992, Journal of Inherited Metabolic Disease.

Clinical, neuroimaging and biochemical findings in patients and patient fibroblasts expressing ten novel GFM1 mutations

A. Munnich, N. Boddaert, A. Rötig, 2020, Human mutation.

Screening human EST database for identification of candidate genes in respiratory chain deficiency.

A. Munnich, P. Rustin, A. Rötig, 2000, Molecular genetics and metabolism.

Inborn errors of complex II--unusual human mitochondrial diseases.

P. Rustin, A. Rötig, Pierre Rustin, 2002, Biochimica et biophysica acta.

Multiple deletions of mtDNA in two brothers with sideroblastic anemia and mitochondrial myopathy and in their asymptomatic mother.

X. Estivill, A. Rötig, J. Montoya, 1994, Human molecular genetics.

Uridine preserves the expression of respiratory enzyme deficiencies in cultured fibroblasts

T. Bourgeron, A. Munnich, P. Rustin, 1993, European Journal of Pediatrics.

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

Robert W. Taylor, T. Wieland, A. Munnich, 2018, Orphanet Journal of Rare Diseases.

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

P. Bénit, A. Munnich, P. Rustin, 2003, Biochemical and biophysical research communications.

Biallelic variants in TAMM41 are associated with low muscle cardiolipin levels, leading to neonatal mitochondrial disease

S. Mehta, A. Rötig, C. Bönnemann, 2022, HGG advances.

Continuous measurement of oxaloacetate in purified mitochondria from the leaves of Kalanchoë blossfeldiana

P. Rustin, A. Rötig, M. Alin, 1985 .

Co-amplification of nuclear pseudogenes and assessment of heteroplasmy of mitochondrial DNA mutations.

A. Munnich, P. Rustin, A. Rötig, 1998, Biochemical and biophysical research communications.

Disabled early recruitment of antioxidant defenses in Friedreich's ataxia.

A. Munnich, M. Koenig, P. Rustin, 2001, Human molecular genetics.

Quinone analogs prevent enzymes targeted in Friedreich ataxia from iron‐induced injury in vitro

A. Munnich, P. Rustin, A. Rötig, 1999, BioFactors.

Muscle mitochondrial DNA in encephalomyopathy and ragged red fibres: a Southern blot analysis and literature review

A. Rötig, J. Degos, C. Geny, 1991, Journal of Neurology.

Mitochondrial DNA rearrangements with onset as chronic diarrhea with villous atrophy.

A. Munnich, P. Rustin, A. Rötig, 1994, The Journal of pediatrics.

Site-specific deletions of the mitochondrial genome in the Pearson marrow-pancreas syndrome.

A. Munnich, A. Veerman, A. Rötig, 1991, Genomics.

No mitochondrial cytochrome oxidase (COX) gene mutations in 18 cases of COX deficiency

A. Munnich, P. Rustin, A. Rötig, 1997, Human Genetics.

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

A. Rötig, A. Salvá, A. Ribes, 1993, Journal of Inherited Metabolic Disease.

Human cultured skin fibroblasts survive profound inherited ubiquinone depletion

A. Munnich, P. Rustin, A. Rötig, 2001, Free radical research.

Haematological characteristics and spontaneous haematological recovery in Pearson syndrome

A. Borkhardt, A. Rötig, A. Yoshimi, 2021, British journal of haematology.

Phenotypic expression of mitochondrial genotypes in cultured skin fibroblasts and in Epstein–Barr virus–transformed lymphocytes in Pearson syndrome

T. Bourgeron, A. Munnich, P. Rustin, 1995, Muscle & nerve. Supplement.

A shared pattern of altered gene expression in human embryos affected by mitochondrial diseases.

A. Munnich, N. Frydman, A. Rötig, 2023, Human reproduction.

Expanding the clinical spectrum of MTTF mutations

A. Munnich, N. Boddaert, A. Rötig, 2019, Molecular genetics and metabolism reports.

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

A. Munnich, P. Rustin, A. Rötig, 1993, Journal of Inherited Metabolic Disease.

Kidney involvement in mitochondrial disorders.

T. Bourgeron, A. Munnich, P. Rustin, 1995, Advances in nephrology from the Necker Hospital.

Deletion of mitochondrial DNA in patient with chronic tubulointerstitial nephritis.

A. Munnich, P. Rustin, A. Rötig, 1995, The Journal of pediatrics.

[Friedreich's ataxia and mitochondria: the puzzle reconstructed].

A. Munnich, P. Rustin, A. Rötig, 1999, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Mitochondrial double-stranded RNA triggers antiviral signalling in humans

A. Munnich, M. Teitell, A. Rötig, 2018, Nature.

Respiratory Chain Deficiency in Alpers Syndrome

A. Munnich, P. Rustin, A. Rötig, 2001, Neuropediatrics.

Prenatal diagnosis of respiratory chain deficiency by direct mutation screening

P. Bénit, A. Munnich, P. Rustin, 2001, Prenatal diagnosis.

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

N. Drouot, A. Durr, M. Koenig, 2013, Orphanet Journal of Rare Diseases.

PRPS1 loss-of-function variants, from isolated hearing loss to severe congenital encephalopathy: New cases and literature review.

A. Munnich, H. Prokisch, N. Boddaert, 2020, European journal of medical genetics.

A novel mutation and novel features in Nijmegen breakage syndrome

A. Green, E. Shoubridge, A. Munnich, 2001, Journal of medical genetics.

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

Thomas Meitinger, Nathalie Boddaert, Robert Barouki, 2017, American journal of human genetics.

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

A. Munnich, A. Rötig, K. Gibson, 1992, The Journal of pediatrics.

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

M. Zeviani, A. Rötig, R. Horvath, 2009, Biochimica et biophysica acta.

DMM020438 509..526

L. Steinmetz, Raeka S. Aiyar, A. Glatigny, 2015 .

Expression study of genes involved in iron metabolism in human tissues.

A. Munnich, P. Rustin, A. Rötig, 2001, Biochemical and biophysical research communications.

258th ENMC international workshop Leigh syndrome spectrum: genetic causes, natural history and preparing for clinical trials 25-27 March 2022, Hoofddorp, Amsterdam, The Netherlands

Marni J. Falk, H. Prokisch, A. Rötig, 2023, Neuromuscular Disorders.

Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.

Marni J. Falk, V. Mootha, E. Schadt, 2018, American journal of human genetics.

Erratum: Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome (The American Journal of Human Genetics (2017) 101(2) (239–254) (S0002929717302835) (10.1016/j.ajhg.2017.07.005))

Eric E. Schadt, Nathalie Boddaert, Aleksandra Filipovska, 2018 .

MITOCHONDRIAL DNA DELETION IN PEARSON'S MARROW/PANCREAS SYNDROME

A. Munnich, A. Rötig, A. Rotig, 1989, The Lancet.

Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy (Journal of Clinical Investigation (2010) 120, 3 (791-802) DOI: 10.1172/JCI40076)

Bethan E. Hoskins, D. Seelow, H. Prokisch, 2010 .

Heart transplantation in children with mitochondrial cardiomyopathy

A. Munnich, P. Rustin, A. Rötig, 2022 .

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

R. Rodenburg, A. Rötig, B. Funalot, 2016, American journal of human genetics.

Nonsense mutations in the COX1 subunit impair the stability of respiratory chain complexes rather than their assembly

M. Hellmich, A. Rötig, T. Tatsuta, 2012, The EMBO journal.

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

A. Rötig, J. Ricci, S. Bannwarth, 2012, Mitochondrion.

Efficiency of metabolic screening in childhood cardiomyopathies.

P. Rustin, A. Rötig, I. Gautier, 1998, European heart journal.

Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency

L. Hertz-Pannier, P. Rustin, A. Rötig, 2003, Journal of medical genetics.

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

A. Munnich, N. Boddaert, A. Rötig, 2014, Journal of Medical Genetics.

The OXA1L gene that controls cytochrome oxidase assembly maps to the 14q11.2 region of the human genome.

A. Rötig, E. Viégas-Péquignot, G. Dujardin, 1995, Genomics.

Heart transplantation in children with mitochondrial cardiomyopathy

A. Rötig, J. Bidois, Pierre Rustin, 2001, Heart.

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

A. Munnich, N. Boddaert, A. Rötig, 2020, European Journal of Human Genetics.

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

A. Munnich, N. Boddaert, A. Rötig, 2020 .

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

D. Galanaud, N. Boddaert, A. Rötig, 2010, Journal of Medical Genetics.

Mitochondrial DNA inheritance in patients with deleted mtDNA

T. Bourgeron, A. Munnich, P. Rustin, 2001, Journal of medical genetics.

Successful treatment of severe MSUD in Bckdhb−/− mice with neonatal AAV gene therapy

A. Rötig, P. de Lonlay, A. Brassier, 2023, Journal of inherited metabolic disease.

Refractory epilepsy and mitochondrial dysfunction due to GM3 synthase deficiency

A. Rötig, V. Desquiret-Dumas, V. Procaccio, 2012, European Journal of Human Genetics.

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

A. Beaudet, M. Bainbridge, A. Rötig, 2017, Clinical genetics.