Zoekresultaten - Agnès Rötig

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  1. 1
    Human diseases with impaired mitochondrial protein synthesis

    Human diseases with impaired mitochondrial protein synthesis door Agnès Rötig

    Gepubliceerd in 2011
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  2. 2
    The kidney in mitochondrial cytopathies

    The kidney in mitochondrial cytopathies door Patrick Niaudet, Agnès Rötig

    Gepubliceerd in 1997
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  3. 3
    Genetic causes of mitochondrial DNA depletion in humans

    Genetic causes of mitochondrial DNA depletion in humans door Agnès Rötig, Joanna Poulton

    Gepubliceerd in 2009
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  4. 4
    Genetic Features of Mitochondrial Respiratory Chain Disorders

    Genetic Features of Mitochondrial Respiratory Chain Disorders door Agnès Rötig, Arnold Münnich

    Gepubliceerd in 2003
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  5. 5
    Succinate dehydrogenase and human diseases: new insights into a well-known enzyme

    Succinate dehydrogenase and human diseases: new insights into a well-known enzyme door Pierre Rustin, Arnold Münnich, Agnès Rötig

    Gepubliceerd in 2002
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  6. 6
    Fate and expression of the deleted mitochondrial DNA differ between human heteroplasmic skin fibroblast and Epstein-Barr virus-transformed lymphocyte cultures.

    Fate and expression of the deleted mitochondrial DNA differ between human heteroplasmic skin fibroblast and Epstein-Barr virus-transformed lymphocyte cultures. door Thomas Bourgeron, Dominique Chrétien, Agnès Rötig, Arnold Münnich, Pierre Rustin

    Gepubliceerd in 1993
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  7. 7
    Activation of Peroxisome Proliferator-Activated Receptor Pathway Stimulates the Mitochondrial Respiratory Chain and Can Correct Deficiencies in Patients’ Cells Lacking Its Components

    Activation of Peroxisome Proliferator-Activated Receptor Pathway Stimulates the Mitochondrial Respiratory Chain and Can Correct Deficiencies in Patients’ Cells Lacking Its Componen... door Jean Bastin, Flore Aubey, Agnès Rötig, Arnold Münnich, Fatima Djouadi

    Gepubliceerd in 2008
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  8. 8
    Inborn errors of the Krebs cycle: a group of unusual mitochondrial diseases in human

    Inborn errors of the Krebs cycle: a group of unusual mitochondrial diseases in human door Pierre Rustin, Thomas Bourgeron, Béatrice Parfait, Dominique Chrétien, Arnold Münnich, Agnès Rötig

    Gepubliceerd in 1997
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  9. 9
    A novel recurrent mitochondrial DNA mutation in <i>ND3</i> gene is associated with isolated complex I deficiency causing Leigh syndrome and dystonia

    A novel recurrent mitochondrial DNA mutation in <i>ND3</i> gene is associated with isolated complex I deficiency causing Leigh syndrome and dystonia door Emmanuelle Sarzi, Michael D. Brown, Sophie Lebon, Dominique Chrétien, Arnold Münnich, Agnès Rötig, Vincent Procaccio

    Gepubliceerd in 2006
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  10. 10
    Disabled early recruitment of antioxidant defenses in Friedreich's ataxia

    Disabled early recruitment of antioxidant defenses in Friedreich's ataxia door Karine Chantrel-Groussard, Vanna Géromel, Hélène Puccio, Michel Kœnig, A Munnich, Agnès Rötig, Pierre Rustin

    Gepubliceerd in 2001
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  11. 11
    Biochemical parameters for the diagnosis of mitochondrial respiratory chain deficiency in humans, and their lack of age-related changes

    Biochemical parameters for the diagnosis of mitochondrial respiratory chain deficiency in humans, and their lack of age-related changes door Dominique Chrétien, Jorge Gallego, Antoni Barrientos, Jordi Casademont, Francesc Cardellach, Arnold Münnich, Agnès Rötig, Pierre Rustin

    Gepubliceerd in 1998
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  12. 12
    Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy, and deafness (Wolfram syndrome, MIM 222300).

    Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy, and deafness (Wolfram syndrome, MIM 222300). door Agnès Rötig, Valérie Cormier‐Daire, Pierre Chatelain, R François, Jean‐Marie Saudubray, Pierre Rustin, Arnold Münnich

    Gepubliceerd in 1993
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  13. 13
    Mutations in C12orf62, a Factor that Couples COX I Synthesis with Cytochrome c Oxidase Assembly, Cause Fatal Neonatal Lactic Acidosis

    Mutations in C12orf62, a Factor that Couples COX I Synthesis with Cytochrome c Oxidase Assembly, Cause Fatal Neonatal Lactic Acidosis door Woranontee Weraarpachai, Florin Sasarman, Tamiko Nishimura, Hana Antonická, Karine Auré, Agnès Rötig, Anne Lombès, Eric A. Shoubridge

    Gepubliceerd in 2012
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  14. 14
    Mutations in mitochondrial ribosomal protein MRPL12 leads to growth retardation, neurological deterioration and mitochondrial translation deficiency

    Mutations in mitochondrial ribosomal protein MRPL12 leads to growth retardation, neurological deterioration and mitochondrial translation deficiency door Valérie Serre, Agata Rozanska, Marine Beinat, Dominique Chrétien, Nathalie Boddaert, Arnold Münnich, Agnès Rötig, Zofia M. Chrzanowska‐Lightowlers

    Gepubliceerd in 2013
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  15. 15
    Functional Consequences of a<i>SDHB</i>Gene Mutation in an Apparently Sporadic Pheochromocytoma

    Functional Consequences of a<i>SDHB</i>Gene Mutation in an Apparently Sporadic Pheochromocytoma door Anne‐Paule Gimenez‐Roqueplo, Judith Favier, Pierre Rustin, Claudine Rieubland, V. Kerlan, Pierre‐François Plouin, Agnès Rötig, Xavier Jeunemaı̂tre

    Gepubliceerd in 2002
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  16. 16
    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

    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 Pathw... door Anne‐Paule Gimenez‐Roqueplo, Judith Favier, Pierre Rustin, Jean‐Jacques Mourad, Pierre‐François Plouin, Pierre Corvol, Agnès Rötig, Xavier Jeunemaı̂tre

    Gepubliceerd in 2001
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  17. 17
    Nonsense mutations in the COX1 subunit impair the stability of respiratory chain complexes rather than their assembly

    Nonsense mutations in the COX1 subunit impair the stability of respiratory chain complexes rather than their assembly door Hue‐Tran Hornig‐Do, Takashi Tatsuta, Angela Buckermann, Maria Bust, Gittan Kollberg, Agnès Rötig, Martin Hellmich, Leo Nijtmans, Rudolf J. Wiesner

    Gepubliceerd in 2012
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  18. 18
    Mutation of the fumarase gene in two siblings with progressive encephalopathy and fumarase deficiency.

    Mutation of the fumarase gene in two siblings with progressive encephalopathy and fumarase deficiency. door Thomas Bourgeron, Dominique Chrétien, Jo Poggi-Bach, Shawn Doonan, Daniel Rabier, P Letouzé, Arnold Münnich, Agnès Rötig, P. Landrieu, Pierre Rustin

    Gepubliceerd in 1994
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  19. 19
    Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders

    Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders door Julie Mollet, Irina Giurgea, Dimitri Schlemmer, Gustav Dallner, Dominique Chrétien, Agnés Delahodde, Delphine Bacq, Pascale de Lonlay, Arnold Münnich, Agnès Rötig

    Gepubliceerd in 2007
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  20. 20
    Mutations of the SCO1 Gene in Mitochondrial Cytochrome c Oxidase Deficiency with Neonatal-Onset Hepatic Failure and Encephalopathy

    Mutations of the SCO1 Gene in Mitochondrial Cytochrome c Oxidase Deficiency with Neonatal-Onset Hepatic Failure and Encephalopathy door Isabelle Valnot, Sandrine Osmond, Nadine Gigarel, Blandine Mehaye, Jeanne Amiel, Valérie Cormier‐Daire, Arnold Münnich, Jean‐Paul Bonnefont, Pierre Rustin, Agnès Rötig

    Gepubliceerd in 2000
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