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51

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

B. Parfait, D. Chretien, A. Rötig, C. Marsac, A. Munnich, P. Rustin

Journal:

Year:

2000

Language:

english

File:

PDF, 241 KB

english, 2000

52

Respiratory chain deficiency presenting as congenital nephrotic syndrome

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 M

Journal:

Pediatric Nephrology

Year:

2005

Language:

english

File:

PDF, 285 KB

english, 2005

53

A case of Pearson syndrome associated with multiple renal cysts

Aytemiz Gürgey, İmran Özalp, Agnes Rötig, Ttorgay Coşkun, Gülsevin Tekinalp, Gülsen Erdem, Zühal Akcören, Melda Caglar, Aysin Bakkaloglu

Journal:

Pediatric Nephrology

Year:

1996

Language:

english

File:

PDF, 559 KB

english, 1996

54

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

V. Valayannopoulos, L. Hubert, J. F. Benoist, S. Romano, J. B. Arnoux, D. Chrétien, J. Kaplan, F. Fakhouri, D. Rabier, A. Rötig, A. S. Lebre, A. Munnich, Y. de Keyzer, P. de Lonlay

Journal:

Journal of Inherited Metabolic Disease

Year:

2009

Language:

english

File:

PDF, 83 KB

english, 2009

55

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

L. Galmiche, F. Jaubert, F. Sauvat, S. Sarnacki, O. Goulet, Z. Assouline, V. Vedrenne, A-S. Lebre, N. Boddaert, N. Brousse, D. Chrétien, A. Munnich, A. Rötig

Journal:

Neurogastroenterology & Motility

Year:

2011

Language:

english

File:

PDF, 535 KB

english, 2011

56

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

Pierre Rustin, Agnès Rötig, Marie-Françoise Alin

Journal:

Physiologia Plantarum

Year:

1985

Language:

english

File:

PDF, 4.68 MB

english, 1985

57

Epileptic phenotypes in children with respiratory chain disorders

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

Journal:

Year:

2010

Language:

english

File:

PDF, 844 KB

english, 2010

58

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

Mbaya, E, Oulès, B, Caspersen, C, Tacine, R, Massinet, H, Pennuto, M, Chrétien, D, Munnich, A, Rötig, A, Rizzuto, R

Journal:

Cell Death & Differentiation

Year:

2010

Language:

english

File:

PDF, 1.15 MB

english, 2010

59

The kidney in mitochondrial cytopathies

Niaudet, Patrick, Rötig, Agnès

Journal:

Kidney International

Year:

1997

Language:

english

File:

PDF, 965 KB

english, 1997

60

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

Bourgeron, Thomas, Rustin, Pierre, Chretien, Dominique, Birch-Machin, Mark, Bourgeois, Marie, Viegas-Péquignot, Evani, Munnich, Arnold, Rötig, Agnès

Journal:

Nature Genetics

Year:

1995

File:

PDF, 891 KB

1995

61

Aconitase and mitochondrial iron–sulphur protein deficiency in Friedreich ataxia

Rötig, Agnès, de Lonlay, Pascale, Chretien, Dominique, Foury, Françoise, Koenig, Michel, Sidi, Daniel, Munnich, Arnold, Rustin, Pierre

Journal:

Nature Genetics

Year:

1997

File:

PDF, 345 KB

1997

62

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

Naïmi, Mourad, Bannwarth, Sylvie, Procaccio, Vincent, Pouget, Jean, Desnuelle, Claude, Pellissier, Jean-François, Rötig, Agnes, Munnich, Arnold, Calvas, Patrick, Richelme, Christian

Journal:

European Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 142 KB

english, 2006

63

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

Naïmi, Mourad, Bannwarth, Sylvie, Procaccio, Vincent, Pouget, Jean, Desnuelle, Claude, Pellissier, Jean-François, Rötig, Agnes, Munnich, Arnold, Calvas, Patrick, Richelme, Christian

Journal:

European Journal of Human Genetics

Year:

2007

File:

PDF, 33 KB

2007

64

Persistent hypocitrullinaemia as a marker for mtDNA NARP T 8993 G mutation?

D. Rabier, C. Diry, A. Rotig, P. Rustin, B. Heron, J. Bardet, P. Parvy, G. Ponsot, C. Marsac, J. M. Saudubray, A. Munnich, P. Kamoun

Journal:

Journal of Inherited Metabolic Disease

Year:

1998

Language:

english

File:

PDF, 97 KB

english, 1998

65

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

I. Wittig, P. Augstein, G. K. Brown, T. Fujii, A. Rötig, P. Rustin, A. Munnich, P. Seibel, D. Thorburn, B. Wissinger, K. Tamboom, A. Metspalu, E. Lamantea, M. Zeviani, M. S. Wehnert

Journal:

Journal of Inherited Metabolic Disease

Year:

2001

Language:

english

File:

PDF, 126 KB

english, 2001

66

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

P. Rustin, D. Chretien, B. Parfait, A. Rötig, A. Munnich

Journal:

Molecular and Cellular Biochemistry

Year:

1997

Language:

english

File:

PDF, 191 KB

english, 1997

67

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

Pierre Rustin, Arnold Munnich, Agnès Rötig

Journal:

Year:

1999

Language:

english

File:

PDF, 43 KB

english, 1999

68

Investigation of Respiratory Chain Activity in Human Heart

P. Rustin, D. Chretien, T. Bourgeron, J. Lebidois, D. Sidi, A. Rotig, A. Munnich

Journal:

Biochemical Medicine and Metabolic Biology

Year:

1993

File:

PDF, 339 KB

1993

69

Allgemeine analytische Methoden und Apparate

G. Sonntag, A. Behre, A. Scholl, H. Rötiger

Journal:

European Food Research and Technology

Year:

1908

Language:

german

File:

PDF, 568 KB

german, 1908

70

Acute Infantile Liver Failure Due to Mutations in the TRMU Gene

Avraham Zeharia, Avraham Shaag, Orit Pappo, Anne-Marie Mager-Heckel, Ann Saada, Marine Beinat, Olga Karicheva, Hanna Mandel, Noa Ofek, Reeval Segel, Daphna Marom, Agnes Rötig, Ivan Tarassov, Orly Elpe

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 979 KB

english, 2009

71

Acute Infantile Liver Failure Due to Mutations in the TRMU Gene

Avraham Zeharia, Avraham Shaag, Orit Pappo, Anne-Marie Mager-Heckel, Ann Saada, Marine Beinat, Olga Karicheva, Hanna Mandel, Noa Ofek, Reeval Segel, Daphna Marom, Agnes Rötig, Ivan Tarassov, Orly Elpe

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 25 KB

english, 2010

72

Poor Correlations in the Levels of Pathogenic Mitochondrial DNA Mutations in Polar Bodies versus Oocytes and Blastomeres in Humans

Nadine Gigarel, Laetitia Hesters, David C. Samuels, Sophie Monnot, Philippe Burlet, Violaine Kerbrat, Frédéric Lamazou, Alexandra Benachi, René Frydman, Josué Feingold, Agnes Rotig, Arnold Munnich, Je

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 146 KB

english, 2011

73

Mutations in C12orf62, a Factor that Couples COX I Synthesis with Cytochrome c Oxidase Assembly, Cause Fatal Neonatal Lactic Acidosis

Woranontee Weraarpachai, Florin Sasarman, Tamiko Nishimura, Hana Antonicka, Karine Auré, Agnès Rötig, Anne Lombès, Eric A. Shoubridge

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 1.27 MB

english, 2012

74

Human diseases with impaired mitochondrial protein synthesis

Journal:

Biochimica et Biophysica Acta (BBA) - Bioenergetics

Year:

2011

Language:

english

File:

PDF, 416 KB

english, 2011

75

For debate: defective mitochondria, free radicals, cell death, aging-reality or myth-ochondria?

Pierre Rustin, Jurgen-Christoph von Kleist-Retzow, Zoltan Vajo, Agnes Rotig, Amold Munnich

Journal:

Mechanisms of Ageing and Development

Year:

2000

Language:

english

File:

PDF, 85 KB

english, 2000

76

285 Peripheral neuropathy as the predominant manifestation of a mitochondrial DNA deletion

C. Lacroix, A. Rôtig, J. Boulloche, B. Parfait, P. Rustin, M. Brivet, A. Münnich, P. Landrieu

Journal:

European Journal of Paediatric Neurology

Year:

1999

Language:

english

File:

PDF, 147 KB

english, 1999

77

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

Antoni Barrientos, Jordi Casademont, Agnès Rötig, Òscar Miró, Álvaro Urbano-Márquez, Pierre Rustin, Francesc Cardellach

Journal:

Biochemical and Biophysical Research Communications

Year:

1996

Language:

english

File:

PDF, 75 KB

english, 1996

78

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

Vanna Geromel, Béatrice Parfait, Jürgen-Christoph von Kleist-Retzow, Dominique Chretien, Arnold Munnich, Agnès Rötig, Pierre Rustin

Journal:

Biochemical and Biophysical Research Communications

Year:

1997

Language:

english

File:

PDF, 72 KB

english, 1997

79

Coamplification of Nuclear Pseudogenes and Assessment of Heteroplasmy of Mitochondrial DNA Mutations

Béatrice Parfait, Pierre Rustin, Arnold Munnich, Agnès Rötig

Journal:

Biochemical and Biophysical Research Communications

Year:

1998

Language:

english

File:

PDF, 64 KB

english, 1998

80

Expression Study of Genes Involved in Iron Metabolism in Human Tissues

Agnès Rötig, Karine Chantrel-Groussard, Arnold Munnich, Pierre Rustin

Journal:

Biochemical and Biophysical Research Communications

Year:

2001

Language:

english

File:

PDF, 165 KB

english, 2001

81

Screening Human EST Database for Identification of Candidate Genes in Respiratory Chain Deficiency

Agnès Rötig, Isabelle Valnot, Claude Mugnier, Pierre Rustin, Arnold Munnich

Journal:

Molecular Genetics and Metabolism

Year:

2000

Language:

english

File:

PDF, 275 KB

english, 2000

82

Reference charts for respiratory chain activities in human tissues

D. Chretien, P. Rustin, T. Bourgeron, A. Rötig, J.M. Saudubray, A. Munnich

Journal:

Clinica Chimica Acta

Year:

1994

Language:

english

File:

PDF, 1.06 MB

english, 1994

83

Biochemical and molecular investigations in respiratory chain deficiencies

P. Rustin, D. Chretien, T. Bourgeron, B. Gérard, A. Rötig, J.M. Saudubray, A. Munnich

Journal:

Clinica Chimica Acta

Year:

1994

Language:

english

File:

PDF, 1.40 MB

english, 1994

84

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

Dominique Chretien, Marc Pourrier, Thomas Bourgeron, Maï Séné, Agnès Rötig, Arnold Munnich, Pierre Rustin

Journal:

Clinica Chimica Acta

Year:

1995

Language:

english

File:

PDF, 354 KB

english, 1995

85

Cytochrome c oxidase deficiency presenting as recurrent neonatal myoglobinuria

Pascal Saunier, Dominique Chretien, Chantal Wood, Agnès Rötig, Jean-Paul Bonnefont, Jean-Marie Saudubray, Daniel Rabier, Arnold Munnich, Pierre Rustin

Journal:

Neuromuscular Disorders

Year:

1995

Language:

english

File:

PDF, 399 KB

english, 1995

86

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

J. Poulton, M. Hirano, A. Spinazzola, M. Arenas Hernandez, C. Jardel, A. Lombès, B. Czermin, R. Horvath, J.W. Taanman, A. Rotig, M. Zeviani, C. Fratter

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Year:

2009

Language:

english

File:

PDF, 134 KB

english, 2009

87

Genetic causes of mitochondrial DNA depletion in humans

Agnès Rötig, Joanna Poulton

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Year:

2009

Language:

english

File:

PDF, 287 KB

english, 2009

88

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

Matthew Glover Addo, Raynald Cossard, Damien Pichard, Kwasi Obiri-Danso, Agnès Rötig, Agnès Delahodde

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Year:

2010

Language:

english

File:

PDF, 691 KB

english, 2010

89

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

Z. Assouline, M. Jambou, M. Rio, C. Bole-Feysot, P. de Lonlay, C. Barnerias, I. Desguerre, C. Bonnemains, C. Guillermet, J. Steffann, A. Munnich, J.P. Bonnefont, A. Rötig, A.S. Lebre

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Year:

2012

Language:

english

File:

PDF, 449 KB

english, 2012

90

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

Damiano Panelli, Vittoria Petruzzella, Rita Vitale, Domenico De Rasmo, Arnold Munnich, Agnès Rötig, Sergio Papa

Journal:

Year:

2008

Language:

english

File:

PDF, 351 KB

english, 2008

91

Genetic bases of mitochondrial respiratory chain disorders

Journal:

Diabetes & Metabolism

Year:

2010

File:

PDF, 509 KB

2010

92

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

Christel Thauvin-Robinet, Laurence Faivre, Frédéric Huet, Pierre Journeau, Christophe Glorion, Pierre Rustin, Agnès Rötig, Arnold Munnich, Valérie Cormier-Daire

Journal:

European Journal of Medical Genetics

Year:

2006

Language:

english

File:

PDF, 107 KB

english, 2006

93

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

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. Faiv

Journal:

European Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 116 KB

english, 2009

94

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

Vanessa Vedrenne, Louise Galmiche, Dominique Chretien, Pascale de Lonlay, Arnold Munnich, Agnès Rötig

Journal:

Journal of Hepatology

Year:

2012

Language:

english

File:

PDF, 457 KB

english, 2012

95

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

A. Slama, I. Giurgea, D. Debrey, D. Bridoux, P. de Lonlay, P. Levy, D. Chretien, M. Brivet, A. Legrand, P. Rustin, A. Munnich, A. Rötig

Journal:

Molecular Genetics and Metabolism

Year:

2005

Language:

english

File:

PDF, 199 KB

english, 2005

96

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

Sophie Lebon, Diana Rodriguez, Delphine Bridoux, Amal Zerrad, Agnès Rötig, Arnold Munnich, Alain Legrand, Abdelhamid Slama

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 310 KB

english, 2007

97

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

Sophie Lebon, Limor Minai, Dominique Chretien, Johanna Corcos, Valérie Serre, Noman Kadhom, Julie Steffann, Jean-Yves Pauchard, Arnold Munnich, Jean-Paul Bonnefont, Agnès Rötig

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 197 KB

english, 2007

98

Variable outcome of growth hormone administration in respiratory chain deficiency

S. Romano, D. Samara, H. Crosnier, V. Valayannopoulos, M. Polak, D. Chrétien, A. Rötig, A. Munnich, R. Brauner, P. de Lonlay

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 486 KB

english, 2008

99

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

N. Boddaert, S. Romano, B. Funalot, M. Rio, E. Sarzi, A.S. Lebre, N. Bahi-Buisson, V. Valayannopoulos, I. Desguerre, D. Seidenwurm, F. Brunelle, F. Brami-Zylberberg, A. Rötig, A. Munnich, P. de Lonlay

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 188 KB

english, 2008

100

Mitochondrial respiratory chain complex assembly and function during human fetal development

Limor Minai, Jelena Martinovic, Dominique Chretien, Françoise Dumez, Férechté Razavi, Arnold Munnich, Agnès Rötig

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 539 KB

english, 2008

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