檢索結果 - Marc Ferré

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  1. 1
    <i>eOPA1</i>: An online database for<i>OPA1</i>mutations

    <i>eOPA1</i>: An online database for<i>OPA1</i>mutations 由 Marc Ferré, Patrizia Amati‐Bonneau, Yves Tourmen, Yves Malthièry, Pascal Reynier

    出版 2005
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  2. 2
    Improved Locus-Specific Database for<i>OPA1</i>Mutations Allows Inclusion of Advanced Clinical Data

    Improved Locus-Specific Database for<i>OPA1</i>Mutations Allows Inclusion of Advanced Clinical Data 由 Marc Ferré, Angélique Caignard, Dan Miléa, Stéphanie Leruez, Julien Cassereau, Arnaud Chevrollier, Patrizia Amati‐Bonneau, Christophe Verny, Dominique Bonneau, Vincent Procaccio, Pascal Reynier

    出版 2014
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  3. 3
    Autophagy controls the pathogenicity of <i><scp>OPA</scp>1</i> mutations in dominant optic atrophy

    Autophagy controls the pathogenicity of <i><scp>OPA</scp>1</i> mutations in dominant optic atrophy 由 Mariame Selma Kane, Jennifer Alban, Valérie Desquiret‐Dumas, Naïg Guéguen, Layal Ishak, Marc Ferré, Patrizia Amati‐Bonneau, Vincent Procaccio, Dominique Bonneau, Guy Lenaers, Pascal Reynier, Arnaud Chevrollier

    出版 2017
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  4. 4
    Resveratrol Induces a Mitochondrial Complex I-dependent Increase in NADH Oxidation Responsible for Sirtuin Activation in Liver Cells

    Resveratrol Induces a Mitochondrial Complex I-dependent Increase in NADH Oxidation Responsible for Sirtuin Activation in Liver Cells 由 Valérie Desquiret‐Dumas, Naïg Guéguen, Géraldine Leman, Stéphanie Baron, Valérie Nivet‐Antoine, Stéphanie Chupin, Arnaud Chevrollier, Emilie Vessières, Audrey Ayer, Marc Ferré, Dominique Bonneau, Daniel Henrion, Pascal Reynier, Vincent Procaccio

    出版 2013
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  5. 5
    Idebenone increases mitochondrial complex I activity in fibroblasts from LHON patients while producing contradictory effects on respiration

    Idebenone increases mitochondrial complex I activity in fibroblasts from LHON patients while producing contradictory effects on respiration 由 Claire Angebault, Naïg Guéguen, Valérie Desquiret‐Dumas, Arnaud Chevrollier, Virginie Guillet, Christophe Verny, Julien Cassereau, Marc Ferré, Dan Miléa, Patrizia Amati‐Bonneau, Dominique Bonneau, Vincent Procaccio, Pascal Reynier, Dominique Loiseau

    出版 2011
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  6. 6
    OPA1: 516 unique variants and 831 patients registered in an updated centralized Variome database

    OPA1: 516 unique variants and 831 patients registered in an updated centralized Variome database 由 Bastien Le Roux, Guy Lenaers, Xavier Zanlonghi, Patrizia Amati‐Bonneau, Floris Chabrun, Thomas Foulonneau, Angélique Caignard, Stéphanie Leruez, Philippe Gohier, Vincent Procaccio, Dan Miléa, Johan T. den Dunnen, Pascal Reynier, Marc Ferré

    出版 2019
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  7. 7
    Early-onset Behr syndrome due to compound heterozygous mutations in OPA1

    Early-onset Behr syndrome due to compound heterozygous mutations in OPA1 由 Dominique Bonneau, Estelle Colin, Florine Oca, Marc Ferré, Arnaud Chevrollier, Naïg Guéguen, Valérie Desquiret‐Dumas, Sylvie Nguyen, Magalie Barth, Xavier Zanlonghi, Marlène Rio, Isabelle Desguerre, Christine Barnérias, Marta Momtchilova, Diana Rodriguez, Abdelhamid Slama, Guy Lenaers, Vincent Procaccio, Patrizia Amati‐Bonneau, Pascal Reynier

    出版 2014
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    Carta
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  8. 8
    Endogenous IL-1 receptor antagonist restricts healthy and malignant myeloproliferation

    Endogenous IL-1 receptor antagonist restricts healthy and malignant myeloproliferation 由 Alicia Villatoro, Vincent Cuminetti, Aurora Bernal, Carlos Torroja, Itziar Cossío, Alberto Benguría, Marc Ferré, Joanna Konieczny, Enrique Vázquez, Andrea Rubio, Peter Utnes, Almudena Tello, Xiaona You, Christopher G. Fenton, Ruth H. Paulssen, Jing Zhang, Fátima Sánchez‐Cabo, Ana Dopazo, Anders Vik, Endre Anderssen, Andrés Hidalgo, Lorena Arranz

    出版 2023
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  9. 9
    Loss-of-Function Mutations in WDR73 Are Responsible for Microcephaly and Steroid-Resistant Nephrotic Syndrome: Galloway-Mowat Syndrome

    Loss-of-Function Mutations in WDR73 Are Responsible for Microcephaly and Steroid-Resistant Nephrotic Syndrome: Galloway-Mowat Syndrome 由 Estelle Colin, Evelyne Huynh Cong, Géraldine Mollet, Agnès Guichet, Olivier Gribouval, Christelle Arrondel, Olivia Boyer, Laurent Daniel, Marie‐Claire Gubler, Zelal Ekinci, Michel Tsimaratos, B. Chabrol, Nathalie Boddaert, Alain Verloès, Arnaud Chevrollier, Naïg Guéguen, Valérie Desquiret‐Dumas, Marc Ferré, Vincent Procaccio, Laurence Richard, Benoît Funalot, Anne Moncla, Dominique Bonneau, Corinne Antignac

    出版 2014
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  10. 10
    The metabolomic signature of Leber’s hereditary optic neuropathy reveals endoplasmic reticulum stress

    The metabolomic signature of Leber’s hereditary optic neuropathy reveals endoplasmic reticulum stress 由 Juan Manuel Chao de la Barca, Gilles Simard, Patrizia Amati‐Bonneau, Zainab Safiedeen, Delphine Prunier‐Mirebeau, Stéphanie Chupin, Cédric Gadras, Lydie Tessier, Naïg Guéguen, Arnaud Chevrollier, Valérie Desquiret‐Dumas, Marc Ferré, Céline Bris, Judith Kouassi Nzoughet, Cinzia Bocca, Stéphanie Leruez, Christophe Verny, Dan Miléa, Dominique Bonneau, Guy Lenaers, María Carmen Martínez, Vincent Procaccio, Pascal Reynier

    出版 2016
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  11. 11
    Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders

    Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders 由 Sylvie Bannwarth, Vincent Procaccio, Anne Sophie Lebre, Claude Jardel, Annabelle Chaussenot, Claire Hoarau, Hassani Maoulida, Nathanaël Charrier, Xiaowu Gai, Hongbo Xie, Marc Ferré, Konstantina Fragaki, G. Hardy, Bénédicte Mousson de Camaret, Sandrine Marlin, Claire Marie Dhaenens, Abdelhamid Slama, Christophe Rocher, Jean‐Paul Bonnefont, Agnès Rötig, Nadia Aoutil, Martine Gilleron, Valérie Desquiret‐Dumas, Pascal Reynier, Jennifer Ceresuela, Laurence Jonard, Aurore Devos, Caroline Espil‐Taris, Delphine Martinez, Pauline Gaignard, Kim‐Hanh Le Quan Sang, Patrizia Amati‐Bonneau, Marni J. Falk, Catherine Florentz, B. Chabrol, Isabelle Durand‐Zaleski, Véronique Paquis‐Flucklinger

    出版 2013
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  12. 12
    The top 10 most frequently involved genes in hereditary optic neuropathies in 2186 probands

    The top 10 most frequently involved genes in hereditary optic neuropathies in 2186 probands 由 Aude Rocatcher, Valérie Desquiret‐Dumas, Majida Charif, Marc Ferré, Philippe Gohier, Delphine Mirebeau‐Prunier, Christophe Verny, Dan Miléa, Guy Lenaers, Catherine Vignal, Cédric Lamirel, Rabih Hage, Hélène Dollfus, Isabelle Meunier, Xavier Zanlonghi, Valérie Touitou, Pierre Lebranchu, Sylvie Odent, Caroline Froment Tilikete, L. Jeanjean, Sabine Defoort‐Dhellemmes, Isabelle Drumare-Bouvet, Vasily Smirnov, Catherine Vincent-Delorme, Damien Biotti, Fanny Varenne, Patrick Calvas, Nicolas Chassaing, Mikaël Cohen, Christophe Orssaud, Fanny Mochel, Agathe Roubertie, Annick Toutain, Frédéric Pollet-Villard, Marie Noelle Bonnet Dupeyron, Céline Boulicot, Béatrice Cochener, Alice Goldenberg, Marie Line Jacquemont, Christine Francannet, Dominique Bonneau, Pascal Reynier, Patrizia Amati‐Bonneau

    出版 2022
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