Rötig, Agnès

Aconitase and mitochondrial iron–sulphur protein deficiency in Friedreich ataxia

Rötig, A., de Lonlay, P., Chretien, D., Foury, F., Koenig, M., Sidi, D., Munnich, A., & Rustin, P. (1997) · Nature Genetics

Genetic Neurodegenerative DiseasesMitochondrial Function and Pathology

Cited by 991

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

Bourgeron, T., Rustin, P., Chretien, D., Birch-Machin, M., Bourgeois, M., Viegas-Péquignot, E., Munnich, A., & Rötig, A. (1995) · Nature Genetics

Mitochondrial Function and PathologyMetabolism and Genetic Disorders

Cited by 730

Mitochondrial double-stranded RNA triggers antiviral signalling in humans

Dhir, A., Dhir, S., Borowski, L. S., Jimenez, L., Teitell, M., Rötig, A., Crow, Y. J., Rice, G. I., Duffy, D., Tamby, C., et al. (2018) · Nature

interferon and immune responsesMitochondrial Function and Pathology

Cited by 631

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

Rötig, A., Cormier, V, Blanche, S., Bonnefont, J. P., Ledeist, F., Romero, N., Schmitz, J., Rustin, P., Fischer, A., & Saudubray, J. M. (1990) · Journal of Clinical Investigation

Mitochondrial Function and PathologyMetabolism and Genetic Disorders

Cited by 461

Selective iron chelation in Friedreich ataxia: biologic and clinical implications

Boddaert, N., Le Quan Sang, K. H., Rötig, A., Leroy-Willig, A., Gallet, S., Brunelle, F., Sidi, D., Thalabard, J.-C., Munnich, A., & Cabantchik, Z. I. (2007) · Blood

Neurological diseases and metabolismIron Metabolism and Disorders

Cited by 409

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

Gimenez-Roqueplo, A.-P., Favier, J., Rustin, P., Mourad, J.-J., Plouin, P.-F., Corvol, P., Rötig, A., & Jeunemaitre, X. (2001) · The American Journal of Human Genetics

Adrenal and Paraganglionic TumorsNeurofibromatosis and Schwannoma Cases

Cited by 364

Functional Consequences of a SDHB Gene Mutation in an Apparently Sporadic Pheochromocytoma

Gimenez-Roqueplo, A.-P., Favier, J., Rustin, P., Rieubland, C., Kerlan, V., Plouin, P.-F., Rötig, A., & Jeunemaitre, X. (2002) · The Journal of Clinical Endocrinology & Metabolism

Adrenal and Paraganglionic TumorsMetabolism and Genetic Disorders

Cited by 209

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

Rustin, P., Bourgeron, T., Parfait, B., Chretien, D., Munnich, A., & Rötig, A. (1997) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Metabolism and Genetic DisordersMitochondrial Function and Pathology

Cited by 137

Inborn errors of complex II – Unusual human mitochondrial diseases

Rustin, P., & Rötig, A. (2002) · Biochimica et Biophysica Acta (BBA) - Bioenergetics

Mitochondrial Function and PathologyMetabolism and Genetic Disorders

Cited by 135

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

Drecourt, A., Babdor, J., Dussiot, M., Petit, F., Goudin, N., Garfa-Traoré, M., Habarou, F., Bole-Feysot, C., Nitschké, P., Ottolenghi, C., et al. (2018) · The American Journal of Human Genetics

Neurological diseases and metabolismIron Metabolism and Disorders

Cited by 100

FDXR mutations cause sensorial neuropathies and expand the spectrum of mitochondrial Fe-S-synthesis diseases

Paul, A., Drecourt, A., Petit, F., Deguine, D. D., Vasnier, C., Oufadem, M., Masson, C., Bonnet, C., Masmoudi, S., Mosnier, I., et al. (2017) · The American Journal of Human Genetics

Mitochondrial Function and PathologyHereditary Neurological Disorders

Cited by 95

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

Barrientos, A., Casademont, J., Rötig, A., Miró, Ò., Urbano-Márquez, Á., Rustin, P., & Cardellach, F. (1996) · Biochemical and Biophysical Research Communications

Mitochondrial Function and PathologyMuscle Physiology and Disorders

Cited by 95

Genetic features of mitochondrial respiratory chain disorders

Rötig, A., & Munnich, A. (2003) · Journal of the American Society of Nephrology

Nerve injury and regenerationMitochondrial Function and Pathology

Cited by 82

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., et al. (2010) · Cell Death & Differentiation

Mitochondrial Function and PathologyAutophagy in Disease and Therapy

Cited by 52

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

Rötig, A., Sidi, D., Munnich, A., & Rustin, P. (2002) · Trends in Molecular Medicine

Genetic Neurodegenerative DiseasesMitochondrial Function and Pathology

Cited by 46