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Agnès Rötig

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Konstantina Fragaki; Catherine Gire; Raymond Mengual; Samira Ait-El-Mkadem; Marie Bénéteau; Laurent Bonesso; Annabelle Chaussenot; Valérie Desquiret-Dumas; Vincent Procaccio; Jean-Ehrland Ricci; Agnès Rötig; Véronique Paquis-Flucklinger
Refractory epilepsy and mitochondrial dysfunction due to GM3 synthase deficiency.
Coralie Haudry; Zahra Assouline; Christine Bole-Feysot; Jean-Paul Bonnefont; Anais Brassier; Pascale de Lonlay; Valerie Malan; Arnold Munnich; Solenn Pruvost; Agnès Rötig; Anne-Sophie Lebre
Maternal uniparental disomy of chromosome 2 in a patient with a DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome.
Vanessa Vedrenne; Valérie Serre; Ivan Tarassov; Cecilia Altuzarra; Nathalie Boddaert; Florence Chretien; Pascale de Lonlay; Nina Entelis; Ali Gowher; Anne-Marie Mager-Heckel; Arnold Munnich; Patrick Nitschke; Agnès Rötig
Mutation in PNPT1, which encodes a polyribonucleotide nucleotidyltransferase, impairs RNA import into mitochondria and causes respiratory-chain deficiency.

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All Publications

2013: Konstantina Fragaki; Catherine Gire; Raymond Mengual; Samira Ait-El-Mkadem; Marie Bénéteau; Laurent Bonesso; Annabelle Chaussenot; Valérie Desquiret-Dumas; Vincent Procaccio; Jean-Ehrland Ricci; Agnès Rötig; Véronique Paquis-Flucklinger
Refractory epilepsy and mitochondrial dysfunction due to GM3 synthase deficiency.
European journal of human genetics : EJHG 2013;21(5):528-34.
2012: Coralie Haudry; Zahra Assouline; Christine Bole-Feysot; Jean-Paul Bonnefont; Anais Brassier; Pascale de Lonlay; Valerie Malan; Arnold Munnich; Solenn Pruvost; Agnès Rötig; Anne-Sophie Lebre
Maternal uniparental disomy of chromosome 2 in a patient with a DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome.
Molecular genetics and metabolism 2012;107(4):700-4.
2012: Vanessa Vedrenne; Valérie Serre; Ivan Tarassov; Cecilia Altuzarra; Nathalie Boddaert; Florence Chretien; Pascale de Lonlay; Nina Entelis; Ali Gowher; Anne-Marie Mager-Heckel; Arnold Munnich; Patrick Nitschke; Agnès Rötig
Mutation in PNPT1, which encodes a polyribonucleotide nucleotidyltransferase, impairs RNA import into mitochondria and causes respiratory-chain deficiency.
American journal of human genetics 2012;91(5):912-8.
2012: Sylvie Bannwarth; Laurie Destroismaisons; Alexia Figueroa; Konstantina Fragaki; Sandra Lacas-Gervais; Françoise Lespinasse; Jean-François Michiels; Ludivine A Pradelli; Jean-Ehrland Ricci; Agnès Rötig; Christine Vande Velde; Fanny Vandenbos; Véronique Paquis-Flucklinger
The human MSH5 (MutSHomolog 5) protein localizes to mitochondria and protects the mitochondrial genome from oxidative damage.
Mitochondrion 2012;12(6):654-65.
2012: Estelle Valerie Tenisch; Mônica Zilbovicius; Francis Brunelle; Pascale de Lonlay; Isabelle Desguerre; Benoît Funalot; David Grévent; Anne-Sophie Lebre; Arnold Munnich; Marlene Rio; Agnès Rötig; Nathalie Boddaert
Massive and exclusive pontocerebellar damage in mitochondrial disease and NUBPL mutations.
Neurology 2012;79(4):391.
2012: Louise Galmiche; Anne-Sophie Lebre; Arnold Munnich; Marlène Rio; Zahra Assouline; Marine Beinat; Nathalie Boddaert; Florence Chretien; Pascale de Lonlay; Ann Saada (Reisch); Valérie Serre; Ruthie Shenhav; Vanessa Vedrenne; Avraham Zeharia; Raïssa Zossou; Agnès Rötig
Toward genotype phenotype correlations in GFM1 mutations.
Mitochondrion 2012;12(2):242-7.
2012: Woranontee Weraarpachai; Hana Antonicka; Karine Auré; Anne Lombès; Tamiko Nishimura; Agnès Rötig; Florin Sasarman; Eric A Shoubridge
Mutations in C12orf62, a factor that couples COX I synthesis with cytochrome c oxidase assembly, cause fatal neonatal lactic acidosis.
American journal of human genetics 2012;90(1):142-51.
2011: Louise Galmiche; Anne-Sophie Lebre; Arnold Munnich; Patrick Nietschke; Marlène Rio; Zahra Assouline; Marine Beinat; Vladimir Benes; Nathalie Boddaert; Francis Brunelle; Dominique Chretien; Valérie Serre; Daniel Sidi; Agnès Rötig
Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy.
Human mutation 2011;32(11):1225-31.
2011: Agnès Rötig
Human diseases with impaired mitochondrial protein synthesis.
Biochimica et biophysica acta 2011;1807(9):1198-205.
2011: Mike Gerards; Bianca J C van den Bosch; Katharina Danhauser; Valérie Serre; Michel van Weeghel; Ronald J A Wanders; Gerry A F Nicolaes; Wim Sluiter; Kees Schoonderwoerd; Hans R Scholte; Holger Prokisch; Agnès Rötig; I F M de Coo; H J M Smeets
Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old gene.
Brain : a journal of neurology 2011;134(Pt 1):210-9.
2010: E Mbaya; B Oulès; C Caspersen; R Tacine; H Massinet; M Pennuto; D Chrétien; Arnold Munnich; Agnès Rötig; Rosario Rizzuto; G A Rutter; MOUNIA CHAMI; M Chami
Calcium signalling-dependent mitochondrial dysfunction and bioenergetics regulation in respiratory chain Complex II deficiency.
Cell death and differentiation 2010;17(12):1855-66.
2010: Julie Steffann; Sophie Monnot; Agnès Rötig; Arnold Munnich; Jean-Paul Bonnefont
[Nuclear transfer to prevent mitochondrial DNA diseases: myth or reality?].
Médecine sciences : M/S 2010;26(11):897-9.
2010: Matthew Glover Addo; Raynald Cossard; Damien Pichard; K Obiri-Danso; Agnès Rötig; Agnès Delahodde
Caenorhabditis elegans, a pluricellular model organism to screen new genes involved in mitochondrial genome maintenance.
Biochimica et biophysica acta 2010;1802(9):765-73.
2010: Sandra El Sabbagh; Anne-Sophie Lebre; Nadia Bahi-Buisson; Pascale DeLonlay; Christine Soufflet; Nathalie Boddaert; Marlène Rio; Agnès Rötig; Olivier Dulac; Arnold Munnich; Isabelle Desguerre
Epileptic phenotypes in children with respiratory chain disorders.
Epilepsia 2010;51(7):1225-35.
2010: Vassili Valayannopoulos; Coralie Haudry; Valérie Serre; Magalie Barth; Nathalie Boddaert; Jean-Baptiste Arnoux; Valérie Cormier-Daire; Marlène Rio; Daniel Rabier; Anne Vassault; Arnold Munnich; Jean-Paul Bonnefont; Pascale de Lonlay; Agnès Rötig; Anne-Sophie Lebre
New SUCLG1 patients expanding the phenotypic spectrum of this rare cause of mild methylmalonic aciduria.
Mitochondrion 2010;10(4):335-41.
2010: Agnès Rötig
News in ubiquinone biosynthesis.
Chemistry & biology 2010;17(5):415-6.
2010: Agnès Rötig
Genetic bases of mitochondrial respiratory chain disorders.
Diabetes & metabolism 2010;36(2):97-107.
2010: Emmanuelle Sarzi; Agnès Rötig
[Mitochondrial genome instability and associated diseases].
Médecine sciences : M/S 2010;26(2):171-6.
2009: Agnès Rötig; Joanna Poulton
Genetic causes of mitochondrial DNA depletion in humans.
Biochimica et biophysica acta 2009;1792(12):1103-8.
2009: N Brahimi; M Jambou; Emmanuelle Sarzi; Valérie Serre; Nathalie Boddaert; S Romano; Pascale de Lonlay; Abdelhamid Slama; Arnold Munnich; Agnès Rötig; Jean-Paul Bonnefont; A S Lebre
The first founder DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome.
Molecular genetics and metabolism 2009;97(3):221-6.
2009: Esther Leshinsky-Silver; Anne-Sophie Lebre; Limor Minai; Ann Saada (Reisch); Julie Steffann; Sarit Cohen; Agnès Rötig; Arnold Munnich; Dorit Lev; Tally Lerman-Sagie
NDUFS4 mutations cause Leigh syndrome with predominant brainstem involvement.
Molecular genetics and metabolism 2009;97(3):185-9.
2009: Vassili Valayannopoulos; Laurence Hubert; J F Benoist; S Romano; J B Arnoux; Dominique Chrétien; Josseline Kaplan; F Fakhouri; Daniel Rabier; Agnès Rötig; A S Lebre; Arnold Munnich; Yves de Keyzer; Pascale de Lonlay
Multiple OXPHOS deficiency in the liver of a patient with CblA methylmalonic aciduria sensitive to vitamin B(12).
Journal of inherited metabolic disease 2009;32(2):159-62.
2009: Arnold Munnich; Pascale de Lonlay; Agnès Rötig; Pierre Rustin
[Mitochondrial disorders].
Bulletin de l'Académie nationale de médecine 2009;193(1):19-41; discussion 41-3.
2009: Agnès Atale; Patrizia Bonneau-Amati; Agnès Rötig; Alain Fischer; Stéphanie Perez-Martin; Pascale de Lonlay; Patrick Niaudet; L De Parscau; C Mousson; C Thauvin-Robinet; A Munnich; F Huet; L Faivre
Tubulopathy and pancytopaenia with normal pancreatic function: a variant of Pearson syndrome.
European journal of medical genetics 2009;52(1):23-6.
2008: Damiano Panelli; Vittoria Petruzzella; Rita Vitale; Domenico De Rasmo; Arnold Munnich; Agnès Rötig; Sergio Papa
The regulation of PTC containing transcripts of the human NDUFS4 gene of complex I of respiratory chain and the impact of pathological mutations.
Biochimie 2008;90(10):1452-60.
2008: Limor Minai; Jelena Martinovic; Dominique Chretien; Françoise Dumez; Férechté Razavi; Arnold Munnich; Agnès Rötig
Mitochondrial respiratory chain complex assembly and function during human fetal development.
Molecular genetics and metabolism 2008;94(1):120-6.
2008: Jean Bastin; Flore Aubey; Agnès Rötig; Arnold Munnich; Fatima Djouadi
Activation of peroxisome proliferator-activated receptor pathway stimulates the mitochondrial respiratory chain and can correct deficiencies in patients' cells lacking its components.
The Journal of clinical endocrinology and metabolism 2008;93(4):1433-41.
2008: Julie Mollet; Agnès Delahodde; Valérie Serre; Dominique Chretien; Dimitri Schlemmer; Anne Lombes; Nathalie Boddaert; Isabelle Desguerre; Pascale de Lonlay; Hélène Ogier de Baulny; Arnold Munnich; Agnès Rötig
CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures.
American journal of human genetics 2008;82(3):623-30.
2008: S Romano; D Samara; H Crosnier; Vassili Valayannopoulos; Michel Polak; Dominique Chrétien; Agnès Rötig; Arnold Munnich; R Brauner; Pascale de Lonlay
Variable outcome of growth hormone administration in respiratory chain deficiency.
Molecular genetics and metabolism 2008;93(2):195-9.
2008: Nathalie Boddaert; S Romano; B Funalot; Marlène Rio; Emmanuelle Sarzi; A S Lebre; Nadia Bahi-Buisson; Vassili Valayannopoulos; Isabelle Desguerre; David J Seidenwurm; Francis Brunelle; F Brami-Zylberberg; Agnès Rötig; Arnold Munnich; Pascale de Lonlay
1H MRS spectroscopy evidence of cerebellar high lactate in mitochondrial respiratory chain deficiency.
Molecular genetics and metabolism 2008;93(1):85-8.
2007: Emmanuelle Sarzi; Steffi Goffart; Valérie Serre; Dominique Chrétien; Abdelhamid Slama; Arnold Munnich; Johannes N Spelbrink; Agnès Rötig
Twinkle helicase (PEO1) gene mutation causes mitochondrial DNA depletion.
Annals of neurology 2007;62(6):579-87.
2007: Alice Bourdon; Agnès Rötig
[p53R2 : DNA repair or mitochondrial DNA synthesis?].
Médecine sciences : M/S 2007;23(10):803-5.
2007: Sophie Lebon; Limor Minai; Dominique Chretien; Johanna Corcos; Valérie Serre; Noman Kadhom; Julie Steffann; Jean-Yves Pauchard; Arnold Munnich; Jean-Paul Bonnefont; Agnès Rötig
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.
Molecular genetics and metabolism 2007;92(1-2):104-8.
2007: Nathalie Boddaert; Kim Hanh Le Quan Sang; Agnès Rötig; Anne Leroy-Willig; Serge Gallet; Francis Brunelle; Daniel Sidi; Jean-Christophe Thalabard; Arnold Munnich; Ioav Cabantchik
Selective iron chelation in Friedreich ataxia: biologic and clinical implications.
Blood 2007;110(1):401-8.
2007: Alice Bourdon; Limor Minai; Valérie Serre; Jean-Philippe jais; Emmanuelle Sarzi; Sophie Aubert; Dominique Chrétien; Pascale de Lonlay; Véronique Paquis-Flucklinger; Hirofumi Arakawa; Yusuke Nakamura; Arnold Munnich; Agnès Rötig
Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion.
Nature genetics 2007;39(6):776-80.
2007: Agnès Rötig; Julie Mollet; Marlène Rio; Arnold Munnich
Infantile and pediatric quinone deficiency diseases.
Mitochondrion 2007;7 Suppl():S112-21.
2007: Emmanuelle Sarzi; Alice Bourdon; Dominique Chrétien; Mohamed Zarhrate; Johanna Corcos; Abdelhamid Slama; Valérie Cormier-Daire; Pascale de Lonlay; Arnold Munnich; Agnès Rötig
Mitochondrial DNA depletion is a prevalent cause of multiple respiratory chain deficiency in childhood.
The Journal of pediatrics 2007;150(5):531-4, 534.e1-6.
2007: Sophie Lebon; Diana Rodriguez; Delphine Bridoux; Amal Zerrad; Agnès Rötig; Arnold Munnich; Alain Legrand; Abdelhamid Slama
A novel mutation in the human complex I NDUFS7 subunit associated with Leigh syndrome.
Molecular genetics and metabolism 2007;90(4):379-82.
2007: Julie Mollet; Irina Giurgea; Dimitri Schlemmer; Gustav Dallner; Dominique Chretien; Agnès Delahodde; Delphine Bacq; Pascale de Lonlay; Arnold Munnich; Agnès Rötig
Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders.
The Journal of clinical investigation 2007;117(3):765-72.
2006: C Bouchet; Julie Steffann; Johanna Corcos; S Monnot; V Paquis; Agnès Rötig; Sophie Lebon; P Levy; Ghislaine Royer; Irina Giurgea; Nadine Gigarel; alexandra benachi; Yves Dumez; Arnold Munnich; Jean-Paul Bonnefont
Prenatal diagnosis of myopathy, encephalopathy, lactic acidosis, and stroke-like syndrome: contribution to understanding mitochondrial DNA segregation during human embryofetal development.
Journal of medical genetics 2006;43(10):788-92.
2006: Mourad Naïmi; Sylvie Bannwarth; Vincent Procaccio; Jean Pouget; Claude Desnuelle; Jean-François Pellissier; Agnès Rötig; Arnold Munnich; Patrick Calvas; Christian Richelme; Philippe Jonveaux; Giovanni Castelnovo; Mariella Simon; Melvin Simon; Michel Clanet; Douglas C Wallace; Véronique Paquis-Flucklinger
Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay.
European journal of human genetics : EJHG 2006;14(8):917-22.
2006: antonella spinazzola; Carlo Viscomi; Erika Fernandez-Vizarra; Franco Carrara; Pio D'Adamo; Sarah Calvo; René Massimiliano Marsano; Claudia Donnini; Hans Weiher; Pietro Strisciuglio; Rossella Parini; Emmanuelle Sarzi; Alicia Chan; Salvatore DiMauro; Agnès Rötig; Paolo Gasparini; Iliana Ferrero; Vamsi K Mootha; Valeria Tiranti; Massimo Zeviani
MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion.
Nature genetics 2006;38(5):570-5.
2006: Christel Thauvin-Robinet; Laurence Faivre; Frédéric Huet; Pierre Journeau; Christophe Glorion; Pierre Rustin; Agnès Rötig; Arnold Munnich; Valérie Cormier-Daire
Another observation with VATER association and a complex IV respiratory chain deficiency.
European journal of medical genetics 2006;49(1):71-7.
2005: Abdelhamid Slama; Irina Giurgea; D Debrey; D Bridoux; Pascale de Lonlay; P Levy; Dominique Chretien; Michèle Brivet; Alain Legrand; Pierre Rustin; A Munnich; Agnès Rötig
Deoxyguanosine kinase mutations and combined deficiencies of the mitochondrial respiratory chain in patients with hepatic involvement.
Molecular genetics and metabolism 2005;86(4):462-5.
2005: Alice Goldenberg; Linh Huynh Ngoc; Marie-Christine Thouret; Valérie Cormier-Daire; Marie-France Gagnadoux; Dominique Chrétien; Catherine Lefrançois; Vanna Geromel; Agnès Rötig; Pierre Rustin; Arnold Munnich; Véronique Paquis; Corinne Antignac; Marie-Claire Gubler; Patrick Niaudet; Pascale de Lonlay; Etienne Bérard
Respiratory chain deficiency presenting as congenital nephrotic syndrome.
Pediatric nephrology (Berlin, Germany) 2005;20(4):465-9.
2005: Marie-Hélène Odièvre; Dominique Chretien; Arnold Munnich; Brian H Robinson; Renée Dumoulin; Sahben Masmoudi; Noman Kadhom; Agnès Rötig; Pierre Rustin; Jean-Paul Bonnefont
A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of alpha-ketoglutarate dehydrogenase deficiency.
Human mutation 2005;25(3):323-4.
2004: Agnès Rötig; Sophie Lebon; Elena Zinovieva; Julie Mollet; Emmanuelle Sarzi; Jean-Paul Bonnefont; Arnold Munnich
Molecular diagnostics of mitochondrial disorders.
Biochimica et biophysica acta 2004;1659(2-3):129-35.
2004: Agnès Rötig
[mtDNA mutator mice: an ageing model].
Médecine sciences : M/S 2004;20(10):847.
2004: Pierre Rustin; Damien Bonnet; Agnès Rötig; Arnold Munnich; Daniel Sidi
Idebenone treatment in Friedreich patients: one-year-long randomized placebo-controlled trial.
Neurology 2004;62(3):524-5; author reply 525; discussion 525.
2004: Pierre Rustin; Arnold Munnich; Agnès Rötig
Mitochondrial respiratory chain dysfunction caused by coenzyme Q deficiency.
Methods in enzymology 2004;382():81-8.
2004: Dominique Chretien; Abdelhamid Slama; Jean-Jacques Briere; Arnold Munnich; Agnès Rötig; Pierre Rustin
Revisiting pitfalls, problems and tentative solutions for assaying mitochondrial respiratory chain complex III in human samples.
Current medicinal chemistry 2004;11(2):233-9.
2004: Paule Bénit; Abdelhamid Slama; F Cartault; Irina Giurgea; Dominique Chretien; Sophie Lebon; Cécile Marsac; Arnold Munnich; Agnès Rötig; Pierre Rustin
Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome.
Journal of medical genetics 2004;41(1):14-7.
2003: Sophie Lebon; Marie Chol; Paule Benit; Claude Mugnier; Dominique Chretien; Irina Giurgea; I Kern; E Girardin; Lucie Hertz-Pannier; Pascale de Lonlay; Agnès Rötig; Pierre Rustin; Arnold Munnich
Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency.
Journal of medical genetics 2003;40(12):896-9.
2003: Agnès Rötig; Arnold Munnich
Genetic features of mitochondrial respiratory chain disorders.
Journal of the American Society of Nephrology : JASN 2003;14(12):2995-3007.
2003: Niklas Darin; Noman Kadhom; Jean-Jacques Briere; Dominique Chretien; Cécile M Bébéar; Agnès Rötig; Arnold Munnich; Pierre Rustin
Mitochondrial activities in human cultured skin fibroblasts contaminated by Mycoplasma hyorhinis.
BMC biochemistry 2003;4():15.
2003: Jürgen-Christoph von Kleist-Retzow; Valérie Cormier-Daire; Géraldine Viot; Alice Goldenberg; Becky Mardach; Jeanne Amiel; Philippe Saada; Yves Dumez; Francis Brunelle; Jean-Marie Saudubray; Dominique Chrétien; Agnès Rötig; Pierre Rustin; Arnold Munnich; Pascale de Lonlay
Antenatal manifestations of mitochondrial respiratory chain deficiency.
The Journal of pediatrics 2003;143(2):208-12.
2003: Bruno Guéry; Gabriel Choukroun; Laure-Hélène Noël; Pierre Clavel; Agnès Rötig; Sophie Lebon; Pierre Rustin; Christine Bellané-Chantelot; Béatrice Mougenot; Jean-Pierre Grünfeld; Dominique Chauveau
The spectrum of systemic involvement in adults presenting with renal lesion and mitochondrial tRNA(Leu) gene mutation.
Journal of the American Society of Nephrology : JASN 2003;14(8):2099-108.
2003: Paule Bénit; Réjane Beugnot; Dominique Chretien; Irina Giurgea; Pascale De Lonlay-Debeney; Jean-Paul Issartel; Marisol Corral-Debrinski; Stefan Kerscher; Pierre Rustin; Agnès Rötig; Arnold Munnich
Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy.
Human mutation 2003;21(6):582-6.
2003: Paule Bénit; Julie Steffann; Sophie Lebon; Dominique Chretien; Noman Kadhom; Pascale de Lonlay; Alice Goldenberg; Yves Dumez; Marc Dommergues; Pierre Rustin; Arnold Munnich; Agnès Rötig
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.
Human genetics 2003;112(5-6):563-6.
2003: Agnès Rötig
Renal disease and mitochondrial genetics.
Journal of nephrology 2003;16(2):286-92.
2003: Marie Chol; Sophie Lebon; Paule Bénit; Dominique Chretien; Pascale de Lonlay; Alice Goldenberg; Sylvie Odent; Lucie Hertz-Pannier; C Vincent-Delorme; Valérie Cormier-Daire; Pierre Rustin; Agnès Rötig; Arnold Munnich
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.
Journal of medical genetics 2003;40(3):188-91.
2003: Dominique Chretien; Paule Bénit; Marie Chol; Sophie Lebon; Agnès Rötig; Arnold Munnich; Pierre Rustin
Assay of mitochondrial respiratory chain complex I in human lymphocytes and cultured skin fibroblasts.
Biochemical and biophysical research communications 2003;301(1):222-4.
2002: Pascale de Lonlay; Claude Mugnier; Damien Sanlaville; Karine Chantrel-Groussard; Paule Bénit; Sophie Lebon; Dominique Chrétien; Noman Kadhom; Safa Saker; Gabor Gyapay; Serge Romana; Jean Weissenbach; Arnold Munnich; Pierre Rustin; Agnès Rötig
Cell complementation using Genebridge 4 human:rodent hybrids for physical mapping of novel mitochondrial respiratory chain deficiency genes.
Human molecular genetics 2002;11(26):3273-81.
2002: Anne-Paule Gimenez-Roqueplo; Judith Favier; Pierre Rustin; Claudine Rieubland; Véronique Kerlan; Pierre-François Plouin; Agnès Rötig; Xavier Jeunemaitre
Functional consequences of a SDHB gene mutation in an apparently sporadic pheochromocytoma.
The Journal of clinical endocrinology and metabolism 2002;87(10):4771-4.
2002: Vanna Geromel; Niklas Darin; Dominique Chrétien; Paule Bénit; Pascale DeLonlay; Agnès Rötig; Arnold Munnich; Pierre Rustin
Coenzyme Q(10) and idebenone in the therapy of respiratory chain diseases: rationale and comparative benefits.
Molecular genetics and metabolism 2002;77(1-2):21-30.
2002: Pierre Rustin; Arnold Munnich; Agnès Rötig
Succinate dehydrogenase and human diseases: new insights into a well-known enzyme.
European journal of human genetics : EJHG 2002;10(5):289-91.
2002: Agnès Rötig; Daniel Sidi; Arnold Munnich; Pierre Rustin
Molecular insights into Friedreich's ataxia and antioxidant-based therapies.
Trends in molecular medicine 2002;8(5):221-4.
2002: Pierre Rustin; Agnès Rötig; Arnold Munnich; Daniel Sidi
Heart hypertrophy and function are improved by idebenone in Friedreich's ataxia.
Free radical research 2002;36(4):467-9.
2002: Vanna Geromel; Agnès Rötig; Arnold Munnich; Pierre Rustin
Coenzyme Q10 depletion is comparatively less detrimental to human cultured skin fibroblasts than respiratory chain complex deficiencies.
Free radical research 2002;36(4):375-9.
2002: Ana Hausse; Yacine Aggoun; Damien Bonnet; Daniel Sidi; Arnold Munnich; Agnès Rötig; Pierre Rustin
Idebenone and reduced cardiac hypertrophy in Friedreich's ataxia.
Heart (British Cardiac Society) 2002;87(4):346-9.
2002: Antoni Barrientos; Mario H Barros; Isabelle Valnot; Agnès Rötig; Pierre Rustin; Alexander Tzagoloff
Cytochrome oxidase in health and disease.
Gene 2002;286(1):53-63.
2002: Pierre Rustin; Agnès Rötig
Inborn errors of complex II--unusual human mitochondrial diseases.
Biochimica et biophysica acta 2002;1553(1-2):117-22.
2002: Agnès Rötig; Arnold Munnich; Pierre Rustin
Expressed sequence tag database screening for identification of human genes.
Methods in enzymology 2002;353():566-74.
2001: Anne-Paule Gimenez-Roqueplo; Judith Favier; Pierre Rustin; J J Mourad; Pierre-François Plouin; Pierre Corvol; Agnès Rötig; Xavier Jeunemaitre
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.
American journal of human genetics 2001;69(6):1186-97.
2001: Karine Chantrel-Groussard; Vanna Geromel; H Puccio; M Koenig; Arnold Munnich; Agnès Rötig; Pierre Rustin
Disabled early recruitment of antioxidant defenses in Friedreich's ataxia.
Human molecular genetics 2001;10(19):2061-7.
2001: Lluis Quintana-Murci; Agnès Rötig; A Munnich; P Rustin; Thomas Bourgeron
Mitochondrial DNA inheritance in patients with deleted mtDNA.
Journal of medical genetics 2001;38(9):E28.
2001: Pascale de Lonlay; Isabelle Valnot; Antoni Barrientos; M Gorbatyuk; Alexander Tzagoloff; Jan-Willem Taanman; E Benayoun; Dominique Chrétien; Noman Kadhom; Anne Lombès; Hélène Ogier de Baulny; Patrick Niaudet; Arnold Munnich; Pierre Rustin; Agnès Rötig
A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure.
Nature genetics 2001;29(1):57-60.
2001: Vanna Geromel; Noman Kadhom; Irène Ceballos-Picot; Dominique Chrétien; Arnold Munnich; Agnès Rötig; Pierre Rustin
Human cultured skin fibroblasts survive profound inherited ubiquinone depletion.
Free radical research 2001;35(1):11-21.
2001: Jeanne Amiel; Nadine Gigarel; A Benacki; Paule Benit; Isabelle Valnot; B Parfait; Jürgen-Christoph von Kleist-Retzow; Valérie Raclin; Smaïl Hadj-Rabia; Yves Dumez; Pierre Rustin; Jean-Paul Bonnefont; Arnold Munnich; Agnès Rötig
Prenatal diagnosis of respiratory chain deficiency by direct mutation screening.
Prenatal diagnosis 2001;21(7):602-4.
2001: M Gauthier-Villars; P Landrieu; Valérie Cormier-Daire; Emmanuel Jacquemin; Dominique Chrétien; Agnès Rötig; Pierre Rustin; Arnold Munnich; Pascale de Lonlay
Respiratory chain deficiency in Alpers syndrome.
Neuropediatrics 2001;32(3):150-2.
2001: Paule Bénit; Dominique Chretien; Noman Kadhom; Pascale De Lonlay-Debeney; Valérie Cormier-Daire; A Cabral; Sylviane Peudenier; Pierre Rustin; Arnold Munnich; Agnès Rötig
Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency.
American journal of human genetics 2001;68(6):1344-52.
2001: Vanna Geromel; Noman Kadhom; I Cebalos-Picot; Olivier Ouari; Ange Polidori; Arnold Munnich; Agnès Rötig; Pierre Rustin
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.
Human molecular genetics 2001;10(11):1221-8.
2001: Agnès Rötig; Karine Chantrel-Groussard; Arnold Munnich; Pierre Rustin
Expression study of genes involved in iron metabolism in human tissues.
Biochemical and biophysical research communications 2001;281(3):804-9.
2000: Isabelle Valnot; S Osmond; Nadine Gigarel; B Mehaye; Jeanne Amiel; Valérie Cormier-Daire; Arnold Munnich; Jean-Paul Bonnefont; Pierre Rustin; Agnès Rötig
Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy.
American journal of human genetics 2000;67(5):1104-9.
2000: Laurence Faivre; Valérie Cormier-Daire; Dominique Chrétien; J Christoph von Kleist-Retzow; Jeanne Amiel; Marc Dommergues; Jean-Marie Saudubray; Yves Dumez; Agnès Rötig; Pierre Rustin; Arnold Munnich
Determination of enzyme activities for prenatal diagnosis of respiratory chain deficiency.
Prenatal diagnosis 2000;20(9):732-7.
2000: Agnès Rötig; EL Appelkvist; Vanna Geromel; Dominique Chretien; Noman Kadhom; P Edery; M Lebideau; Gustav Dallner; Arnold Munnich; L Ernster; Pierre Rustin
Quinone-responsive multiple respiratory-chain dysfunction due to widespread coenzyme Q10 deficiency.
Lancet 2000;356(9227):391-5.
2000: Isabelle Valnot; Jürgen-Christoph von Kleist-Retzow; Antoni Barrientos; M Gorbatyuk; Jan-Willem Taanman; B Mehaye; Pierre Rustin; Alexander Tzagoloff; Arnold Munnich; Agnès Rötig
A mutation in the human heme A:farnesyltransferase gene (COX10 ) causes cytochrome c oxidase deficiency.
Human molecular genetics 2000;9(8):1245-9.
2000: Jürgen-Christoph von Kleist-Retzow; Karine Chantrel-Groussard; Agnès Rötig; Arnold Munnich; Pierre Rustin
[Friedreich ataxia. 3 years after the identification of the gene a glimmer of hope for therapy].
Deutsche medizinische Wochenschrift (1946) 2000;125(10):293-5.
2000: Agnès Rötig; Isabelle Valnot; Claude Mugnier; Pierre Rustin; Arnold Munnich
Screening human EST database for identification of candidate genes in respiratory chain deficiency.
Molecular genetics and metabolism 2000;69(3):223-32.
2000: B Parfait; Dominique Chretien; Agnès Rötig; Cécile Marsac; Arnold Munnich; Pierre Rustin
Compound heterozygous mutations in the flavoprotein gene of the respiratory chain complex II in a patient with Leigh syndrome.
Human genetics 2000;106(2):236-43.
2000: Pascale De Lonlay-Debeney; Jürgen-Christoph von Kleist-Retzow; Lucie Hertz-Pannier; Sylviane Peudenier; Valérie Cormier-Daire; P Berquin; Dominique Chrétien; Agnès Rötig; Jean-Marie Saudubray; J Baraton; Francis Brunelle; Pierre Rustin; M Van Der Knaap; Arnold Munnich
Cerebral white matter disease in children may be caused by mitochondrial respiratory chain deficiency.
The Journal of pediatrics 2000;136(2):209-14.
1999: Stéphane Blanche; Marc Tardieu; Pierre Rustin; Abdelhamid Slama; Béatrice Barret; Ghislaine Firtion; Nicole Ciraru-Vigneron; Catherine Lacroix; Christine Rouzioux; Laurent Mandelbrot; Isabelle Desguerre; Agnès Rötig; Marie-Jeanne Mayaux; Jean-François Delfraissy
Persistent mitochondrial dysfunction and perinatal exposure to antiretroviral nucleoside analogues.
Lancet 1999;354(9184):1084-9.
1999: Jürgen-Christoph von Kleist-Retzow; Elodie Vial; Karine Chantrel-Groussard; Agnès Rötig; Arnold Munnich; Pierre Rustin; Jan-Willem Taanman
Biochemical, genetic and immunoblot analyses of 17 patients with an isolated cytochrome c oxidase deficiency.
Biochimica et biophysica acta 1999;1455(1):35-44.
1999: Pierre Rustin; Jürgen-Christoph von Kleist-Retzow; Karine Chantrel-Groussard; Daniel Sidi; Arnold Munnich; Agnès Rötig
Effect of idebenone on cardiomyopathy in Friedreich's ataxia: a preliminary study.
Lancet 1999;354(9177):477-9.
1999: Isabelle Valnot; J Kassis; Dominique Chretien; Pascale de Lonlay; B Parfait; Arnold Munnich; J Kachaner; Pierre Rustin; Agnès Rötig
A mitochondrial cytochrome b mutation but no mutations of nuclearly encoded subunits in ubiquinol cytochrome c reductase (complex III) deficiency.
Human genetics 1999;104(6):460-6.
1999: Pascale De Lonlay-Debeney; P Edery; Valérie Cormier-Daire; B Parfait; Dominique Chrétien; Agnès Rötig; N Romero; Jean-Marie Saudubray; Arnold Munnich; Pierre Rustin
Respiratory chain deficiency presenting as recurrent myoglobinuria in childhood.
Neuropediatrics 1999;30(1):42-4.
1999: Christine Bodemer; Agnès Rötig; Pierre Rustin; V Cormier; Patrick Niaudet; Jean-Marie Saudubray; Daniel Rabier; Arnold Munnich; Yves de Prost
Hair and skin disorders as signs of mitochondrial disease.
Pediatrics 1999;103(2):428-33.
1999: Pierre Rustin; Arnold Munnich; Agnès Rötig
Quinone analogs prevent enzymes targeted in Friedreich ataxia from iron-induced injury in vitro.
BioFactors (Oxford, England) 1999;9(2-4):247-51.
1999: B Parfait; Pascale de Lonlay; Jürgen-Christoph von Kleist-Retzow; Valérie Cormier-Daire; Dominique Chrétien; Agnès Rötig; Daniel Rabier; Jean-Marie Saudubray; Pierre Rustin; Arnold Munnich
The neurogenic weakness, ataxia and retinitis pigmentosa (NARP) syndrome mtDNA mutation (T8993G) triggers muscle ATPase deficiency and hypocitrullinaemia.
European journal of pediatrics 1999;158(1):55-8.
1998: Jürgen-Christoph von Kleist-Retzow; Valérie Cormier-Daire; Pascale de Lonlay; B Parfait; Dominique Chretien; Pierre Rustin; J Feingold; Agnès Rötig; Arnold Munnich
A high rate (20%-30%) of parental consanguinity in cytochrome-oxidase deficiency.
American journal of human genetics 1998;63(2):428-35.
1998: B Parfait; Pierre Rustin; Arnold Munnich; Agnès Rötig
Co-amplification of nuclear pseudogenes and assessment of heteroplasmy of mitochondrial DNA mutations.
Biochemical and biophysical research communications 1998;247(1):57-9.
1998: Damien Bonnet; Pascale de Lonlay; I Gautier; Pierre Rustin; Agnès Rötig; Jean Kachaner; Philippe Acar; J LeBidois; Arnold Munnich; Daniel Sidi
Efficiency of metabolic screening in childhood cardiomyopathies.
European heart journal 1998;19(5):790-3.
1998: Pierre Rustin; Jürgen-Christoph von Kleist-Retzow; Agnès Rötig; A Munnich
Iron overload and mitochondrial diseases.
Lancet 1998;351(9111):1286-7.
1998: Dominique Chretien; J Gallego; Antoni Barrientos; J Casademont; F Cardellach; Arnold Munnich; Agnès Rötig; Pierre Rustin
Biochemical parameters for the diagnosis of mitochondrial respiratory chain deficiency in humans, and their lack of age-related changes.
The Biochemical journal 1998;329 ( Pt 2)():249-54.
1997: B Parfait; A Percheron; Dominique Chretien; Pierre Rustin; Arnold Munnich; Agnès Rötig
No mitochondrial cytochrome oxidase (COX) gene mutations in 18 cases of COX deficiency.
Human genetics 1997;101(2):247-50.
1997: Agnès Rötig; Pascale de Lonlay; Dominique Chretien; F Foury; M Koenig; Daniel Sidi; Arnold Munnich; Pierre Rustin
Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia.
Nature genetics 1997;17(2):215-7.
1997: Pierre Rustin; Dominique Chretien; B Parfait; Agnès Rötig; Arnold Munnich
Nicotinamide adenine dinucleotides permeate through mitochondrial membranes in human Epstein-Barr virus-transformed lymphocytes.
Molecular and cellular biochemistry 1997;174(1-2):115-9.
1997: Pierre Rustin; Thomas Bourgeron; B Parfait; Dominique Chretien; Arnold Munnich; Agnès Rötig
Inborn errors of the Krebs cycle: a group of unusual mitochondrial diseases in human.
Biochimica et biophysica acta 1997;1361(2):185-97.
1997: Vanna Geromel; B Parfait; Jürgen-Christoph von Kleist-Retzow; Dominique Chretien; Arnold Munnich; Agnès Rötig; Pierre Rustin
The consequences of a mild respiratory chain deficiency on substrate competitive oxidation in human mitochondria.
Biochemical and biophysical research communications 1997;236(3):643-6.
1997: Agnès Rötig; B Parfait; L Heidet; G Dujardin; Pierre Rustin; Arnold Munnich
Sequence and structure of the human OXA1L gene and its upstream elements.
Biochimica et biophysica acta 1997;1361(1):6-10.
1997: Agnès Rötig; Jean-Paul Bonnefont; Arnold Munnich
[Mitochondrial diabetes].
Journées annuelles de diabétologie de l'Hôtel-Dieu 1997;():33-42.
1996: Valérie Cormier-Daire; Pierre Rustin; Agnès Rötig; Dominique Chrétien; Martine Le Merrer; D Belli; A Le Goff; Philippe Hubert; C Ricour; Arnold Munnich
Craniofacial anomalies and malformations in respiratory chain deficiency.
American journal of medical genetics 1996;66(4):457-63.
1996: Agnès Rötig; Jean-Paul Bonnefont; Arnold Munnich
Mitochondrial diabetes mellitus.
Diabetes & metabolism 1996;22(5):291-8.
1996: Pierre Rustin; B Parfait; Dominique Chretien; Thomas Bourgeron; Fatima Djouadi; Jean Bastin; Agnès Rötig; Arnold Munnich
Fluxes of nicotinamide adenine dinucleotides through mitochondrial membranes in human cultured cells.
The Journal of biological chemistry 1996;271(25):14785-90.
1996: Patrick Niaudet; Agnès Rötig
Renal involvement in mitochondrial cytopathies.
Pediatric nephrology (Berlin, Germany) 1996;10(3):368-73.
1996: Jean-Pierre Grünfeld; Patrick Niaudet; Agnès Rötig
Renal involvement in mitochondrial cytopathies.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 1996;11(5):760-1.
1996: A Munnich; Agnès Rötig; Dominique Chretien; Jean-Marie Saudubray; V Cormier; Pierre Rustin
Clinical presentations and laboratory investigations in respiratory chain deficiency.
European journal of pediatrics 1996;155(4):262-74.
1996: A Munnich; Agnès Rötig; Dominique Chretien; V Cormier; Thomas Bourgeron; Jean-Paul Bonnefont; Jean-Marie Saudubray; Pierre Rustin
Clinical presentation of mitochondrial disorders in childhood.
Journal of inherited metabolic disease 1996;19(4):521-7.
1995: D Molina-Gomes; Nathalie Bonnefoy; V C Nguyen; Evani Viegas-Péquignot; Agnès Rötig; Geneviève Dujardin
The OXA1L gene that controls cytochrome oxidase assembly maps to the 14q11.2 region of the human genome.
Genomics 1995;30(2):396-8.
1995: Thomas Bourgeron; Pierre Rustin; Dominique Chretien; M Birch-Machin; M Bourgeois; E Viegas-Péquignot; Arnold Munnich; Agnès Rötig
Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency.
Nature genetics 1995;11(2):144-9.
1995: Dominique Chretien; M Pourrier; Thomas Bourgeron; M Séné; Agnès Rötig; Arnold Munnich; Pierre Rustin
An improved spectrophotometric assay of pyruvate dehydrogenase in lactate dehydrogenase contaminated mitochondrial preparations from human skeletal muscle.
Clinica chimica acta; international journal of clinical chemistry 1995;240(2):129-36.
1995: Agnès Rötig; Thomas Bourgeron; Dominique Chretien; Pierre Rustin; Arnold Munnich
Spectrum of mitochondrial DNA rearrangements in the Pearson marrow-pancreas syndrome.
Human molecular genetics 1995;4(8):1327-30.
1995: Agnès Rötig; F Goutières; P Niaudet; Pierre Rustin; Dominique Chretien; G Guest; Jacqueline Mikol; M C Gubler; Arnold Munnich
Deletion of mitochondrial DNA in patient with chronic tubulointerstitial nephritis.
The Journal of pediatrics 1995;126(4):597-601.
1995: Agnès Rötig; A Lehnert; Pierre Rustin; Dominique Chretien; Thomas Bourgeron; P Niaudet; A Munnich
Kidney involvement in mitochondrial disorders.
Advances in nephrology from the Necker Hospital 1995;24():367-78.
1995: Agnès Rötig; Thomas Bourgeron; Pierre Rustin; Arnold Munnich
Phenotypic expression of mitochondrial genotypes in cultured skin fibroblasts and in Epstein-Barr virus-transformed lymphocytes in Pearson syndrome.
Muscle & nerve. Supplement 1995;3():S159-64.
1994: Fatima Djouadi; Jean Bastin; Thierry Gilbert; Agnès Rötig; Pierre Rustin; C Merlet-Benichou
Mitochondrial biogenesis and development of respiratory chain enzymes in kidney cells: role of glucocorticoids.
The American journal of physiology 1994;267(1 Pt 1):C245-54.
1994: Dominique Chretien; Pierre Rustin; Thomas Bourgeron; Agnès Rötig; Jean-Marie Saudubray; Arnold Munnich
Reference charts for respiratory chain activities in human tissues.
Clinica chimica acta; international journal of clinical chemistry 1994;228(1):53-70.
1994: Pierre Rustin; Dominique Chretien; Thomas Bourgeron; B Gérard; Agnès Rötig; Jean-Marie Saudubray; Arnold Munnich
Biochemical and molecular investigations in respiratory chain deficiencies.
Clinica chimica acta; international journal of clinical chemistry 1994;228(1):35-51.
1994: Thomas Bourgeron; Dominique Chretien; J Poggi-Bach; S Doonan; D Rabier; P Letouzé; A Munnich; Agnès Rötig; P Landrieu; Pierre Rustin
Mutation of the fumarase gene in two siblings with progressive encephalopathy and fumarase deficiency.
The Journal of clinical investigation 1994;93(6):2514-8.
1994: Patrick Niaudet; Laurence Heidet; Arnold Munnich; J Schmitz; F Bouissou; Marie-Claire Gubler; Agnès Rötig
Deletion of the mitochondrial DNA in a case of de Toni-Debré-Fanconi syndrome and Pearson syndrome.
Pediatric nephrology (Berlin, Germany) 1994;8(2):164-8.
1994: P Edery; B Gérard; Dominique Chretien; Agnès Rötig; R Cerrone; D Rabier; C Rambaud; M Fabre; Jean-Marie Saudubray; Arnold Munnich
Liver cytochrome c oxidase deficiency in a case of neonatal-onset hepatic failure.
European journal of pediatrics 1994;153(3):190-4.
1994: Pierre Rustin; J Lebidois; Dominique Chretien; Thomas Bourgeron; J F Piechaud; Agnès Rötig; Arnold Munnich; Daniel Sidi
Endomyocardial biopsies for early detection of mitochondrial disorders in hypertrophic cardiomyopathies.
The Journal of pediatrics 1994;124(2):224-8.
1994: Valérie Cormier-Daire; Jean-Paul Bonnefont; Pierre Rustin; C Maurage; H Ogler; J Schmitz; C Ricour; J M Saudubray; A Munnich; Agnès Rötig
Mitochondrial DNA rearrangements with onset as chronic diarrhea with villous atrophy.
The Journal of pediatrics 1994;124(1):63-70.
1993: Thomas Bourgeron; Dominique Chretien; Agnès Rötig; Arnold Munnich; Pierre Rustin
Fate and expression of the deleted mitochondrial DNA differ between human heteroplasmic skin fibroblast and Epstein-Barr virus-transformed lymphocyte cultures.
The Journal of biological chemistry 1993;268(26):19369-76.
1993: Thomas Bourgeron; Dominique Chretien; P Amati; Agnès Rötig; Arnold Munnich; Pierre Rustin
Expression of respiratory chain deficiencies in human cultured cells.
Neuromuscular disorders : NMD 1993;3(5-6):605-8.
1993: Pierre Rustin; Dominique Chretien; Thomas Bourgeron; J LeBidois; Daniel Sidi; Agnès Rötig; Arnold Munnich
Investigation of respiratory chain activity in human heart.
Biochemical medicine and metabolic biology 1993;50(1):120-6.
1993: Agnès Rötig; V Cormier; P Chatelain; R Francois; Jean-Marie Saudubray; Pierre Rustin; Arnold Munnich
Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy, and deafness (Wolfram syndrome, MIM 222300).
The Journal of clinical investigation 1993;91(3):1095-8.
1993: B Gérard; Thomas Bourgeron; Dominique Chretien; Agnès Rötig; Arnold Munnich; Pierre Rustin
Uridine preserves the expression of respiratory enzyme deficiencies in cultured fibroblasts.
European journal of pediatrics 1993;152(3):270.
1993: Pierre Rustin; J Lebidois; Dominique Chretien; Thomas Bourgeron; J F Piechaud; Agnès Rötig; Daniel Sidi; Arnold Munnich
The investigation of respiratory chain disorders in heart using endomyocardial biopsies.
Journal of inherited metabolic disease 1993;16(3):541-4.
1993: Agnès Rötig; V Cormier; P Chatelain; R Francois; Jean-Marie Saudubray; Pierre Rustin; Arnold Munnich
Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy and deafness (DIDMOAD, Wolfram syndrome).
Journal of inherited metabolic disease 1993;16(3):527-30.
1992: Thomas Bourgeron; Dominique Chretien; Agnès Rötig; Arnold Munnich; Pierre Rustin
Isolation and characterization of mitochondria from human B lymphoblastoid cell lines.
Biochemical and biophysical research communications 1992;186(1):16-23.
1992: Thomas Bourgeron; Dominique Chrétien; Agnès Rötig; Arnold Munnich; Pierre Rustin
Prenatal diagnosis of cytochrome c oxidase deficiency in cultured amniocytes is hazardous.
Prenatal diagnosis 1992;12(6):548-9.
1992: Agnès Rötig; J L Bessis; N Romero; V Cormier; Jean-Marie Saudubray; P Narcy; G Lenoir; Pierre Rustin; Arnold Munnich
Maternally inherited duplication of the mitochondrial genome in a syndrome of proximal tubulopathy, diabetes mellitus, and cerebellar ataxia.
American journal of human genetics 1992;50(2):364-70.
1992: Arnold Munnich; Pierre Rustin; Agnès Rötig; Dominique Chretien; Jean-Paul Bonnefont; C Nuttin; V Cormier; A Vassault; P Parvy; J Bardet
Clinical aspects of mitochondrial disorders.
Journal of inherited metabolic disease 1992;15(4):448-55.
1991: C Geny; V Cormier; C Meyrignac; Pierre Cesaro; Jean-Denis Degos; Romain K Gherardi; Agnès Rötig
Muscle mitochondrial DNA in encephalomyopathy and ragged red fibres: a Southern blot analysis and literature review.
Journal of neurology 1991;238(3):171-6.
1991: Agnès Rötig; V Cormier; F Koll; C E Mize; Jean-Marie Saudubray; A Veerman; H A Pearson; Arnold Munnich
Site-specific deletions of the mitochondrial genome in the Pearson marrow-pancreas syndrome.
Genomics 1991;10(2):502-4.
1991: V Cormier; Agnès Rötig; C Geny; Pierre Cesaro; J L Dufier; A Munnich
mtDNA heteroplasmy in Leber hereditary optic neuroretinopathy.
American journal of human genetics 1991;48(4):813-4.
1991: V Cormier; Agnès Rötig; Jean-Paul Bonnefont; F Mechinand; C Berthou; Olivier Goulet; J Schmitz; Stéphane Blanche; A Vassaut; M Maier
[Pearson's syndrome. Pancytopenia with exocrine pancreatic insufficiency: new mitochondrial disease in the first childhood].
Archives françaises de pédiatrie 1991;48(3):171-8.
1990: Dominique Chretien; Thomas Bourgeron; Agnès Rötig; A Munnich; Pierre Rustin
The measurement of the rotenone-sensitive NADH cytochrome c reductase activity in mitochondria isolated from minute amount of human skeletal muscle.
Biochemical and biophysical research communications 1990;173(1):26-33.
1990: Agnès Rötig; V Cormier; Stéphane Blanche; Jean-Paul Bonnefont; F Ledeist; N Romero; J Schmitz; Pierre Rustin; A Fischer; Jean-Marie Saudubray
Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy.
The Journal of clinical investigation 1990;86(5):1601-8.
1990: V Cormier; Agnès Rötig; A R Quartino; G L Forni; R Cerone; M Maier; Jean-Marie Saudubray; A Munnich
Widespread multi-tissue deletions of the mitochondrial genome in the Pearson marrow-pancreas syndrome.
The Journal of pediatrics 1990;117(4):599-602.