Publications HAL des membres

Vincent Procaccio

      2020

    • [1] Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy
      Majida Charif, Arnaud Chevrollier, Naïg Gueguen, Céline Bris, David Goudenège, Valérie Desquiret-Dumas, Stéphanie Leruez, Estelle Colin, Audrey Meunier, Catherine Vignal, Vasily Smirnov, Sabine Defoort-Dhellemmes, Isabelle Drumare Bouvet, Cyril Goizet, Marcela Votruba, Neringa Jurkute, Patrick Yu-Wai-Man, Francesca Tagliavini, Leonardo Caporali, Chiara La Morgia, Valerio Carelli, Vincent Procaccio, Xavier Zanlonghi, Isabelle Meunier, Pascal Reynier, Dominique Bonneau, Patrizia Amati-Bonneau, Guy Lenaers.
      https://hal.archives-ouvertes.fr/hal-02942795
    • [2] Mutations in aARS genes revealed by targeted next-generation sequencing in patients with mitochondrial diseases
      Rahma Felhi, Majida Charif, Lamia Sfaihi, Emna Mkaouar-Rebai, Valerie Desquiret-Dumas, Rim Kallel, Céline Bris, David Goudenège, Agnès Guichet, Dominique Bonneau, Vincent Procaccio, Pascal Reynier, Patrizia Amati-Bonneau, Mongia Hachicha, Faiza Fakhfakh, Guy Lenaers.
      https://hal.archives-ouvertes.fr/hal-02942798
    • [3] Metabolomics hallmarks OPA1 variants correlating with their in-vitro phenotype and predicting clinical severity
      Juan Manuel Chao Barca, Mario Fogazza, Michela Rugolo, Stéphanie Chupin, Valentina del Dotto, Anna Maria Ghelli, Valerio Carelli, Gilles Simard, Vincent Procaccio, Dominique Bonneau, Guy Lenaers, Pascal Reynier, Claudia Zanna.
      https://hal.archives-ouvertes.fr/hal-02543163
    • [4] Lactic Acidosis Together with GM-CSF and M-CSF Induces Human Macrophages toward an Inflammatory Protumor Phenotype
      Léa Paolini, Clément Adam, Céline Beauvillain, Laurence Preisser, Simon Blanchard, Pascale Pignon, Valérie Seegers, Louise-Marie Chevalier, Mario Campone, Romuald Wernert, Véronique Verrielle, Pedro Raro, Norbert Ifrah, Vincent Lavoué, Philippe Descamps, Alain Morel, Véronique Catros, Guillaume Tcherkez, Guy Lenaers, Cinzia Bocca, Judith Kouassi Nzoughet, Vincent Procaccio, Yves Delneste, Pascale Jeannin.
      https://hal.archives-ouvertes.fr/hal-02942808
    • [5] A Plasma Metabolomic Profiling of Exudative Age-Related Macular Degeneration Showing Carnosine and Mitochondrial Deficiencies
      Juan Chao de la Barca, Barnabé Rondet-Courbis, Marc Ferré, Jeanne Muller, Adrien Buisset, Stéphanie Leruez, Guillaume Plubeau, Thibaut Macé, Laurie Moureauzeau, Stéphanie Chupin, Lydie Tessier, Odile Blanchet, Guy Lenaers, Vincent Procaccio, Delphine Mirebeau-Prunier, Gilles Simard, Philippe Gohier, Dan Miléa, Pascal Reynier.
      https://hal.archives-ouvertes.fr/hal-02942801
    • [6] A Plasma Metabolomic Profiling of Exudative Age-Related Macular Degeneration Showing Carnosine and Mitochondrial Deficiencies
      Juan Chao de la Barca, Barnabé Rondet-Courbis, Marc Ferré, Jeanne Muller, Adrien Buisset, Stéphanie Leruez, Guillaume Plubeau, Thibaut Macé, Laurie Moureauzeau, Stéphanie Chupin, Lydie Tessier, Odile Blanchet, Guy Lenaers, Vincent Procaccio, Delphine Mirebeau-Prunier, Gilles Simard, Philippe Gohier, Dan Milea, Pascal Reynier.
      https://hal.archives-ouvertes.fr/hal-02543202
    • [7] A Data Mining Metabolomics Exploration of Glaucoma
      Judith Kouassi Nzoughet, Khadidja Guehlouz, Stéphanie Leruez, Philippe Gohier, Cinzia Bocca, Jeanne Muller, Odile Blanchet, Dominique Bonneau, Gilles Simard, Dan Milea, Vincent Procaccio, Guy Lenaers, Juan Chao de la Barca, Pascal Reynier.
      https://hal.archives-ouvertes.fr/hal-02942804
    • [8] Data-Mining Approach on Transcriptomics and Methylomics Placental Analysis Highlights Genes in Fetal Growth Restriction
      Floris Chabrun, Noémie Huetz, Xavier Dieu, Guillaume Rousseau, Guillaume Bouzillé, Juan Manuel Chao de la Barca, Vincent Procaccio, Guy Lenaers, Odile Blanchet, Guillaume Legendre, Delphine Mirebeau-Prunier, Marc Cuggia, Philippe Guardiola, Pascal Reynier, Geraldine Gascoin.
      https://hal.archives-ouvertes.fr/hal-02942811
    • [9] First characterization of LHON pedigrees in North Africa
      Aymane Bouzidi, Nisrine Aboussair, Majida Charif, Ghita Amalou, David Goudenège, Valérie Desquiret-Dumas, Céline Bris, Najat Sifeddine, Halima Nahili, Meriem Elqabli, Kenza Dafir, Mostafa Kandil, Patrizia Amati-Bonneau, Vincent Procaccio, Abdelhamid Barakat, Guy Lenaers.
      https://hal.archives-ouvertes.fr/hal-02942813
    • [10] The cytokine profile of follicular fluid changes during ovarian ageing
      Pierre-Emmanuel Bouet, Thomas Boueilh, Juan Chao de la Barca, Lisa Boucret, Simon Blanchard, Véronique Ferré-L'hotellier, Pascale Jeannin, Philippe Descamps, Vincent Procaccio, Pascal Reynier, Pascale May-Panloup.
      https://www.hal.inserm.fr/inserm-02516754
    • [11] Lactic acidosis together with GM-CSF and M-CSF induces human macrophages toward an inflammatory pro-tumor phenotype
      Léa Paolini, Clément Adam, Céline Beauvillain, Laurence Preisser, Simon Blanchard, Pascale Pignon, Valérie Seegers, Louise-Marie Chevalier, Mario Campone, Romuald Wernert, Véronique Verriele, Pedro Raro, Norbert Ifrah, Vincent Lavoue, Philippe Descamps, Alain Morel, Véronique Catros, Guillaume Tcherkez, Guy Lenaers, Cinzia Bocca, Judith Kouassi Nzoughet, Vincent Procaccio, Yves Delneste, Pascale Jeannin.
      https://hal-univ-rennes1.archives-ouvertes.fr/hal-02442525
    • [12] Oxidative stress contributes differentially to the pathophysiology of Charcot-Marie-Tooth disease type 2K
      Julien Cassereau, Arnaud Chevrollier, Philippe Codron, Cyril Goizet, Naïg Gueguen, Christophe Verny, Pascal Reynier, Dominique Bonneau, Guy Lenaers, Vincent Procaccio.
      https://hal.archives-ouvertes.fr/hal-02942815
    • [13] Oxidative stress contributes differentially to the pathophysiology of Charcot-Marie-Tooth disease type 2K
      Julien Cassereau, Arnaud Chevrollier, Philippe Codron, Cyril Goizet, Naïg Gueguen, Christophe Verny, Pascal Reynier, Dominique Bonneau, Guy Lenaers, Vincent Procaccio.
      https://hal.univ-angers.fr/hal-02388209
    • [14] Data-Mining Approach on Transcriptomics and Methylomics Placental Analysis Highlights Genes in Fetal Growth Restriction
      Floris Chabrun, Noemie Huetz, Xavier Dieu, Guillaume Rousseau, Guillaume Bouzillé, Juan Manuel Chao de la Barca, Vincent Procaccio, Guy Lenaers, Odile Blanchet, Guillaume Legendre, Delphine Prunier-Mirebeau, Marc Cuggia, Philippe Guardiola, Pascal Reynier, Geraldine Gascoin.
      https://hal-univ-rennes1.archives-ouvertes.fr/hal-02469273
    • [15] A Data Mining Metabolomics Exploration of Glaucoma
      Judith Kouassi Nzoughet, Khadidja Guehlouz, Stéphanie Leruez, Philippe Gohier, Cinzia Bocca, Jeanne Muller, Odile Blanchet, Dominique Bonneau, Gilles Simard, Dan Milea, Vincent Procaccio, Guy Lenaers, Juan Chao de la Barca, Pascal Reynier.
      https://hal.archives-ouvertes.fr/hal-02543212
    • [16] Metabolomics reveals highly regional specificity of cerebral sexual dimorphism in mice
      Floris Chabrun, Xavier Dieu, Guillaume Rousseau, Stéphanie Chupin, Franck Letournel, Vincent Procaccio, Dominique Bonneau, Guy Lenaers, Gilles Simard, Delphine Mirebeau-Prunier, Juan Manuel Chao de la Barca, Pascal Reynier.
      https://hal.archives-ouvertes.fr/hal-02942817

      2019

    • [17] OPA1: 516 unique variants and 831 patients registered in an updated centralized Variome database
      Bastien Le Roux, Guy Lenaers, Xavier Zanlonghi, Patrizia Amati-Bonneau, Floris Chabrun, Thomas Foulonneau, Angélique Caignard, Stéphanie Leruez, Philippe Gohier, Vincent Procaccio, Dan Milea, Johan den Dunnen, Pascal Reynier, Marc Ferré.
      https://hal.univ-angers.fr/hal-02388214
    • [18] AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
      Vincenzo Salpietro, Christine Dixon, Hui Guo, Oscar Bello, Jana Vandrovcova, Stephanie Efthymiou, Reza Maroofian, Gali Heimer, Lydie Burglen, Stephanie Valence, Erin Torti, Moritz Hacke, Julia Rankin, Huma Tariq, Estelle Colin, Vincent Procaccio, Pasquale Striano, Kshitij Mankad, Andreas Lieb, Sharon Chen, Laura Pisani, Conceição Bettencourt, Roope Männikkö, Andreea Manole, Alfredo Brusco, Enrico Grosso, Giovanni Battista Ferrero, Judith Armstrong-Moron, Sophie Gueden, Omer Bar-Yosef, Michal Tzadok, Kristin Monaghan, Teresa Santiago-Sim, Richard Person, Megan Cho, Rebecca Willaert, Yongjin Yoo, Jong-Hee Chae, Yingting Quan, Huidan Wu, Tianyun Wang, Raphael Bernier, Kun Xia, Alyssa Blesson, Mahim Jain, Mohammad Motazacker, Bregje Jaeger, Amy Schneider, Katja Boysen, Alison Muir, Candace Myers, Ralitza Gavrilova, Lauren Gunderson, Laura Schultz-Rogers, Eric Klee, David Dyment, Matthew Osmond, Mara Parellada, Cloe Llorente, Javier Gonzalez-Peñas, Angel Carracedo, Arie van Haeringen, Claudia Ruivenkamp, Caroline Nava, Delphine Héron, Rosaria Nardello, Michele Iacomino, Carlo Minetti, Aldo Skabar, Antonella Fabretto, Miquel Raspall-Chaure, Michael Chez, Anne Tsai, Emily Fassi, Marwan Shinawi, John Constantino, Rita de Zorzi, Sara Fortuna, Fernando Kok, Boris Keren, Dominique Bonneau, Murim Choi, Bruria Benzeev, Federico Zara, Heather Mefford, Ingrid Scheffer, Jill Clayton-Smith, Alfons Macaya, James Rothman, Evan Eichler, Dimitri Kullmann, Henry Houlden, Yves Dauvilliers.
      https://hal.umontpellier.fr/hal-02577355
    • [19] OPA1: 516 unique variants and 831 patients registered in an updated centralized Variome database
      Bastien Le Roux, Guy Lenaers, Xavier Zanlonghi, Patrizia Amati-Bonneau, Floris Chabrun, Thomas Foulonneau, Angélique Caignard, Stéphanie Leruez, Philippe Gohier, Vincent Procaccio, Dan Milea, Johan den Dunnen, Pascal Reynier, Marc Ferré.
      https://hal.archives-ouvertes.fr/hal-02942818
    • [20] Warburg-like effect is a hallmark of complex I assembly defects
      Valérie Desquiret-Dumas, Géraldine Leman, Celine Wetterwald, Stéphanie Chupin, Anaïs Lebert, Salim Khiati, Morgane Le Mao, Guillaume Geffroy, Mariame Selma Kane, Arnaud Chevrollier, David Goudenège, Cédric Gadras, Lydie Tessier, Magalie Barth, Stéphanie Leruez, Patrizia Amati-Bonneau, Daniel Henrion, Dominique Bonneau, Vincent Procaccio, Pascal Reynier, Guy Lenaers, Naïg Gueguen.
      https://hal.univ-angers.fr/hal-02388217
    • [21] Warburg-like effect is a hallmark of complex I assembly defects
      Valerie Desquiret-Dumas, Geraldine Leman, Celine Wetterwald, Stephanie Chupin, Anaïs Lebert, Salim Khiati, Morgane Le Mao, Guillaume Geffroy, Mariame Selma Kane, Arnaud Chevrollier, David Goudenege, Cedric Gadras, Lydie Tessier, Magalie Barth, Stephanie Leruez, Patrizia Amati-Bonneau, Daniel Henrion, Dominique Bonneau, Vincent Procaccio, Pascal Reynier, Guy Lenaers, Naig Gueguen.
      https://hal.archives-ouvertes.fr/hal-02942827
    • [22] Metabolomics reveals highly regional specificity of cerebral sexual dimorphism in mice
      Floris Chabrun, Xavier Dieu, Guillaume Rousseau, Stéphanie Chupin, Franck Letournel, Vincent Procaccio, Dominique Bonneau, Guy Lenaers, Gilles Simard, Delphine Mirebeau-Prunier, Juan Manuel Chao de la Barca, Pascal Reynier.
      https://hal.univ-angers.fr/hal-02388211
    • [23] Nicotinamide Deficiency in Primary Open-Angle Glaucoma
      Judith Kouassi Nzoughet, Juan Manuel Chao de la Barca, Khadidja Guehlouz, Laurent Coulbault, Stéphane Allouche, Cinzia Bocca, Jeanne Muller, Philippe Gohier, Gilles Simard, Dan Milea, Valérie Desquiret-Dumas, Géraldine Leman, Celine Wetterwald, Stéphanie Chupin, Anaïs Lebert, Salim Khiati, Morgane Le Mao, Guillaume Geffroy, Mariame Selma Kane, Arnaud Chevrollier, David Goudenège, Cédric Gadras, Lydie Tessier, Magalie Barth, Stéphanie Leruez, Patrizia Amati-Bonneau, Daniel Henrion, Dominique Bonneau, Vincent Procaccio, Pascal Reynier, Guy Lenaers, Naïg Gueguen.
      https://hal.univ-angers.fr/hal-02388216
    • [24] Nicotinamide Deficiency in Primary Open-Angle Glaucoma
      Judith Kouassi Nzoughet, Juan Manuel Chao de la Barca, Khadidja Guehlouz, Stéphanie Leruez, Laurent Coulbault, Stéphane Allouche, Cinzia Bocca, Jeanne Muller, Patrizia Amati-Bonneau, Philippe Gohier, Dominique Bonneau, Gilles Simard, Dan Milea, Guy Lenaers, Vincent Procaccio, Pascal Reynier.
      https://hal.archives-ouvertes.fr/hal-02942825
    • [25] eKLIPse: a sensitive tool for the detection and quantification of mitochondrial DNA deletions from next-generation sequencing data
      David Goudenège, Celine Bris, Virginie Hoffmann, Valerie Desquiret-Dumas, Claude Jardel, Benoit Rucheton, Sylvie Bannwarth, Veronique Paquis-Flucklinger, Anne Sophie Lebre, Estelle Colin, Patrizia Amati-Bonneau, Dominique Bonneau, Pascal Reynier, Guy Lenaers, Vincent Procaccio.
      https://hal.archives-ouvertes.fr/hal-02942888
    • [26] eKLIPse: a sensitive tool for the detection and quantification of mitochondrial DNA deletions from next-generation sequencing data
      David Goudenège, Céline Bris, Virginie Hoffmann, Valérie Desquiret-Dumas, Claude Jardel, Benoit Rucheton, Sylvie Bannwarth, Véronique Paquis-Flucklinger, Anne Sophie Lebre, Estelle Colin, Patrizia Amati-Bonneau, Dominique Bonneau, Pascal Reynier, Guy Lenaers, Vincent Procaccio.
      https://hal.univ-angers.fr/hal-02388223
    • [27] Lipidomics Reveals Triacylglycerol Accumulation Due to Impaired Fatty Acid Flux in Opa1 -Disrupted Fibroblasts
      Cinzia Bocca, Mariame Selma Kane, Charlotte Veyrat-Durebex, Judith Kouassi Nzoughet, Juan Manuel Chao de la Barca, Stephanie Chupin, Jennifer Alban, Vincent Procaccio, Dominique Bonneau, Gilles Simard, Guy Lenaers, Pascal Reynier, Arnaud Chevrollier.
      https://hal.archives-ouvertes.fr/hal-02942823
    • [28] Lipidomics Reveals Triacylglycerol Accumulation Due to Impaired Fatty Acid Flux in Opa1 -Disrupted Fibroblasts
      Cinzia Bocca, Mariame Selma Kane, Charlotte Veyrat-Durebex, Judith Kouassi Nzoughet, Juan Manuel Chao de la Barca, Stéphanie Chupin, Jennifer Alban, Vincent Procaccio, Dominique Bonneau, Gilles Simard, Guy Lenaers, Pascal Reynier, Arnaud Chevrollier.
      https://hal.univ-angers.fr/hal-02388215
    • [29] Metabolomic Profiling of Aqueous Humor in Glaucoma Points to Taurine and Spermine Deficiency: Findings from the Eye-D Study
      Adrien Buisset, Philippe Gohier, Stéphanie Leruez, Jeanne Muller, Patrizia Amati-Bonneau, Guy Lenaers, Dominique Bonneau, Gilles Simard, Vincent Procaccio, Cédric Annweiler, Dan Milea, Pascal Reynier, Juan Manuel Chao de la Barca.
      https://hal.univ-angers.fr/hal-02388220
    • [30] Metabolomic Profiling of Aqueous Humor in Glaucoma Points to Taurine and Spermine Deficiency: Findings from the Eye-D Study
      Adrien Buisset, Philippe Gohier, Stéphanie Leruez, Jeanne Muller, Patrizia Amati-Bonneau, Guy Lenaers, Dominique Bonneau, Gilles Simard, Vincent Procaccio, Cédric Annweiler, Dan Milea, Pascal Reynier, Juan Manuel Chao de la Barca.
      https://hal.archives-ouvertes.fr/hal-02942885
    • [31] Retinal Neuronal Loss in Visually Asymptomatic Patients With Myoclonic Epilepsy With Ragged-Red Fibers
      Raymond Najjar, Pascal Reynier, Angélique Caignard, Vincent Procaccio, Patrizia Amati-Bonneau, Heather Mack, Dan Milea.
      https://hal.univ-angers.fr/hal-02616930
    • [32] High mitochondrial DNA copy number is associated with longer survival in young patients with glioblastoma
      Laure-Marie Dardaud, Céline Bris, Valérie Desquiret-Dumas, Blandine Boisselier, Emeline Tabouret, Karima Mokhtari, Dominique Figarella-Branger, Audrey Rousseau, Vincent Procaccio.
      https://hal.univ-angers.fr/hal-02616951
    • [33] Next generation sequencing in family with MNGIE syndrome associated to optic atrophy: Novel homozygous POLG mutation in the C-terminal sub-domain leading to mtDNA depletion
      Rahma Felhi, Lamia Sfaihi, Majida Charif, Valérie Desquiret-Dumas, Céline Bris, David Goudenège, Leila Ammar-Keskes, Mongia Hachicha, Dominique Bonneau, Vincent Procaccio, Pascal Reynier, Patrizia Amati-Bonneau, Guy Lenaers, Faiza Fakhfakh.
      https://hal.univ-angers.fr/hal-02388222
    • [34] The mitochondrial DNA content of cumulus cells may help predict embryo implantation
      A Taugourdeau, Valérie Desquiret-Dumas, Jean-François Hamel, Stéphanie Chupin, Lisa Boucret, Véronique Ferré-L’hotellier, Pierre-Emmanuel Bouet, Philippe Descamps, Vincent Procaccio, Pascal Reynier, Pascale May-Panloup.
      https://hal.archives-ouvertes.fr/hal-02062022
    • [35] Next generation sequencing in family with MNGIE syndrome associated to optic atrophy: Novel homozygous POLG mutation in the C-terminal sub-domain leading to mtDNA depletion
      Rahma Felhi, Lamia Sfaihi, Majida Charif, Valerie Desquiret-Dumas, Céline Bris, David Goudenège, Leila Ammar-Keskes, Mongia Hachicha, Dominique Bonneau, Vincent Procaccio, Pascal Reynier, Patrizia Amati-Bonneau, Guy Lenaers, Faiza Fakhfakh.
      https://hal.archives-ouvertes.fr/hal-02942890

      2018

    • [36] Bioinformatics Tools and Databases to Assess the Pathogenicity of Mitochondrial DNA Variants in the Field of Next Generation Sequencing
      Céline Bris, David Goudenege, Valérie Desquiret-Dumas, Majida Charif, Estelle Colin, Dominique Bonneau, Patrizia Amati-Bonneau, Guy Lenaers, Pascal Reynier, Vincent Procaccio.
      https://hal.archives-ouvertes.fr/hal-02942887
    • [37] Bioinformatics Tools and Databases to Assess the Pathogenicity of Mitochondrial DNA Variants in the Field of Next Generation Sequencing
      Céline Bris, David Goudenège, Valérie Desquiret-Dumas, Majida Charif, Estelle Colin, Dominique Bonneau, Patrizia Amati-Bonneau, Guy Lenaers, Pascal Reynier, Vincent Procaccio.
      https://hal.univ-angers.fr/hal-02388221
    • [38] The Metabolomic Bioenergetic Signature of Opa1-Disrupted Mouse Embryonic Fibroblasts Highlights Aspartate Deficiency
      Cinzia Bocca, Mariame Selma Kane, Charlotte Veyrat-Durebex, Stéphanie Chupin, Jennifer Alban, Judith Kouassi Nzoughet, Morgane Le Mao, Juan Manuel Chao de la Barca, Patrizia Amati-Bonneau, Dominique Bonneau, Vincent Procaccio, Guy Lenaers, Gilles Simard, Arnaud Chevrollier, Pascal Reynier.
      https://hal.univ-angers.fr/hal-02388227
    • [39] A Metabolomics Profiling of Glaucoma Points to Mitochondrial Dysfunction, Senescence, and Polyamines Deficiency
      Stéphanie Leruez, Alexandre Marill, Thomas Bresson, Grégoire de Saint Martin, Adrien Buisset, Jeanne Muller, Lydie Tessier, Cédric Gadras, Christophe Verny, Philippe Gohier, Patrizia Amati-Bonneau, Guy Lenaers, Dominique Bonneau, Gilles Simard, Dan Milea, Vincent Procaccio, Pascal Reynier, Juan Manuel Chao de la Barca.
      https://hal.univ-angers.fr/hal-02388225
    • [40] Study of mitochondrial function in placental insufficiency
      Tiphaine Lefebvre, Ombeline Roche, Valérie Seegers, Majida Cherif, Salim Khiati, Naïg Gueguen, Valérie Desquiret-Dumas, Guillaume Geffroy, Odile Blanchet, Pascal Reynier, Guillaume Legendre, Guy Lenaers, Vincent Procaccio, Géraldine Gascoin.
      https://hal.archives-ouvertes.fr/hal-02942897
    • [41] Study of mitochondrial function in placental insufficiency
      Tiphaine Lefebvre, Ombeline Roche, Valerie Seegers, Majida Cherif, Salim Khiati, Naïg Gueguen, Valérie Desquiret-Dumas, Guillaume Geffroy, Odile Blanchet, Pascal Reynier, Guillaume Legendre, Guy Lenaers, Vincent Procaccio, Géraldine Gascoin.
      https://hal.univ-angers.fr/hal-02388228
    • [42] The accumulation of assembly intermediates of the mitochondrial complex I matrix arm is reduced by limiting glucose uptake in a neuronal-like model of MELAS syndrome
      Guillaume Geffroy, Rayane Benyahia, Samuel Frey, Valérie Desquiret-Dumas, Naïg Gueguen, Céline Bris, Sophie Belal, Aurore Inisan, Aurélie Renaud, Arnaud Chevrollier, Daniel Henrion, Dominique Bonneau, Franck Letournel, Guy Lenaers, Pascal Reynier, Vincent Procaccio.
      https://hal.univ-angers.fr/hal-02388232
    • [43] Reply: The expanding neurological phenotype of DNM1L-related disorders
      Sylvie Gerber, Majida Charif, Arnaud Chevrollier, Tanguy Chaumette, Claire Angebault, Selma Kane, Aurélien Paris, Jennifer Alban, Mélanie Quiles, Cécile Delettre, Dominique Bonneau, Vincent Procaccio, Patrizia Amati-Bonneau, Pascal Reynier, Stéphanie Leruez, Raphael Calmon, Nathalie Boddaert, Benoit Funalot, Marlène Rio, Didier Bouccara, Isabelle Meunier, Hiromi Sesaki, Josseline Kaplan, Christian Hamel, Jean-Michel Rozet, Guy Lenaers.
      https://hal.archives-ouvertes.fr/hal-02942899
    • [44] Reply: The expanding neurological phenotype of DNM1L-related disorders
      Sylvie Gerber, Majida Charif, Arnaud Chevrollier, Tanguy Chaumette, Claire Angebault, Selma Kane, Aurélien Paris, Jennifer Alban, Melanie Quilès, Cécile Delettre, Dominique Bonneau, Vincent Procaccio, Patrizia Amati-Bonneau, Pascal Reynier, Stéphanie Leruez, Raphael Calmon, Nathalie Boddaert, Benoît Funalot, Marlène Rio, Didier Bouccara, Isabelle Meunier, Hiromi Sesaki, Josseline Kaplan, Christian Hamel, Jean-Michel Rozet, Guy Lenaers.
      https://hal.univ-angers.fr/hal-02388229
    • [45] Cyclosporine A does not prevent second-eye involvement in Leber’s hereditary optic neuropathy
      Stéphanie Leruez, Christophe Verny, Dominique Bonneau, Vincent Procaccio, Guy Lenaers, Patrizia Amati-Bonneau, Pascal Reynier, Clarisse Scherer, Adriana Prundean, Christophe Orssaud, Xavier Zanlonghi, Marie-Bénédicte Rougier, Caroline Tilikete, Dan Miléa.
      https://www.hal.inserm.fr/inserm-01711469
    • [46] A Plasma Metabolomic Signature of the Exfoliation Syndrome Involves Amino Acids, Acylcarnitines, and Polyamines
      Stéphanie Leruez, Thomas Bresson, Juan de la Barca, Alexandre Marill, Grégoire Martin, Adrien Buisset, Jeanne Muller, Lydie Tessier, Cédric Gadras, Christophe Verny, Patrizia Amati-Bonneau, Guy Lenaers, Philippe Gohier, Dominique Bonneau, Gilles Simard, Dan Milea, Vincent Procaccio, Pascal Reynier.
      https://hal.archives-ouvertes.fr/hal-01964505
    • [47] Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults
      Jean-Michel Rozet, Robert W. Taylor, Daniele Ghezzi, Patrizia Amati-Bonneau, Guy Lenaers, Majida Charif, Alessia Nasca, Kyle Thompson, Sylvie Gerber, Christine Makowski, Neda Mazaheri, Céline Bris, David Goudenège, Andrea Legati, Reza Maroofian, Gholamreza Shariati, Eleonora Lamantea, Sila Hopton, Anna Ardissone, Isabella Moroni, Melania Giannotta, Corinna Siegel, Tim M. Strom, Holger Prokisch, Catherine Vignal-Clermont, Sabine Derrien, Xavier Zanlonghi, Josseline Kaplan, Christian P. Hamel, Stephanie Leruez, Vincent Procaccio, Dominique Bonneau, Pascal Reynier, Frances E. White, Steven A. Hardy, Inês A. Barbosa, Michael A. Simpson, Roshni Vara, Yaumara Perdomo Trujillo, Hamind Galehdari, Charu Deshpande, Tobias B. Haack.
      https://hal.archives-ouvertes.fr/hal-02349433
    • [48] Iron deficiency without anemia is responsible for decreased left ventricular function and reduced mitochondrial complex I activity in a mouse model
      Emmanuel Rineau, Thomas Gaillard, Naïg Gueguen, Vincent Procaccio, Daniel Henrion, Fabrice Prunier, Sigismond Lasocki.
      https://hal.univ-angers.fr/hal-02616780
    • [49] Mitochondrial complex I defect resulting from exercise-induced lower limb ischemia in patients with peripheral arterial disease
      Mickaël Daligault, Vincent Procaccio, Pascal Reynier, Samir Henni, Isabelle Signolet, Pierre Abraham, Stéphanie Chupin, Myriam Ammi, Naïg Gueguen, Franck Letournel, Jean Picquet, Christophe Baufreton.
      https://hal.univ-angers.fr/hal-02616048
    • [50] Primary fibroblasts derived from sporadic amyotrophic lateral sclerosis patients do not show ALS cytological lesions
      Philippe Codron, Julien Cassereau, Patrick Vourc'H, Charlotte Veyrat-Durebex, Hélène Blasco, Selma Kane, Vincent Procaccio, Franck Letournel, Christophe Verny, Guy Lenaers, Pascal Reynier, Arnaud Chevrollier.
      https://hal.archives-ouvertes.fr/hal-01964500
    • [51] How Can a Ketogenic Diet Improve Motor Function?
      Charlotte Veyrat-Durebex, Pascal Reynier, Vincent Procaccio, Rudolf Hergesheimer, Philippe Corcia, Christian R Andres, Hélène Blasco.
      https://hal.archives-ouvertes.fr/hal-02104321
    • [52] Vers une harmonisation du diagnostic par séquençage haut débit des maladies neuromusculaires
      Aurélien Perrin, Philippe Latour, Vincent Procaccio, Claude Jardel, Mathieu Cerino, Gisèle Bonne, Emmanuelle Salort-Campana, J. Andoni Urtizberea, Jean Pouget, Martin Krahn, Mireille Cossée.
      https://hal.sorbonne-universite.fr/hal-01938567
    • [53] A Plasma Metabolomic Signature Involving Purine Metabolism in Human Optic Atrophy 1 (OPA1)-Related Disorders
      Cinzia Bocca, Judith Nzoughet, Stéphanie Leruez, Patrizia Amati-Bonneau, Marc Ferré, Mariame-Selma Kane, Charlotte Veyrat-Durebex, Juan Manuel Chao de la Barca, Arnaud Chevrollier, Chadi Homedan, Christophe Verny, Dan Milea, Vincent Procaccio, Gilles Simard, Dominique Bonneau, Guy Lenaers, Pascal Reynier.
      https://hal.archives-ouvertes.fr/hal-01964499
    • [54] Towards the harmonization of high-throughput sequencing diagnosis of neuromuscular diseases Actions of Molecular Genetic Subcommission of Filnemus
      Aurelien Perrin, Philippe Latour, Vincent Procaccio, Claude Jardel, Mathieu Cerino, Gisele Bonne, Emmanuelle Salort-Campana, J. Andoni Urtizberea, Jean Pouget, Martin Krahn, Mireille Cossee.
      https://hal-amu.archives-ouvertes.fr/hal-01991341
    • [55] Current mechanistic insights into the CCCP-induced cell survival response
      Mariame Kane, Aurelien Paris, Philippe Codron, Julien Cassereau, Vincent Procaccio, Guy Lenaers, Pascal Reynier, Arnaud Chevrollier.
      https://hal.archives-ouvertes.fr/hal-01964494

      2017

    • [56] Predicting the pathogenicity of novel variants in mitochondrial tRNA with MitoTIP
      Sanjay Sonney, Jeremy Leipzig, Marie Lott, Shiping Zhang, Vincent Procaccio, Douglas Wallace, Neal Sondheimer.
      https://www.hal.inserm.fr/inserm-02149524
    • [57] Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond–like features
      Raphael Carapito, Martina Konantz, Catherine Paillard, Zhichao Miao, Angélique Pichot, Magalie Leduc, Yaping Yang, Katie Bergstrom, Donald Mahoney, Deborah Shardy, Ghada Alsaleh, Lydie Naegely, Aline Kolmer, Nicodème Paul, Antoine Hanauer, Véronique Rolli, Joëlle Müller, Elisa Alghisi, Loïc Sauteur, Cécile Macquin, Aurore Morlon, Consuelo Sebastia Sancho, Patrizia Amati-Bonneau, Vincent Procaccio, Anne-Laure Mosca-Boidron, Nathalie Marle, Nael Osmani, Olivier Lefebvre, Jacky Goetz, Sule Unal, Nurten Akarsu, Mirjana Radosavljevic, Marie-Pierre Chenard, Fanny Rialland, Audrey Grain, Marie-Christine Béné, Marion Eveillard, Vincent Vincent, Julien Guy, Laurence Faivre, Christel Thauvin-Robinet, Julien Thevenon, Kasiani Myers, Mark Fleming, Akiko Shimamura, Elodie Bottollier-Lemallaz, Eric Westhof, Claudia Lengerke, Bertrand Isidor, Seiamak Bahram.
      https://hal.archives-ouvertes.fr/hal-02171273
    • [58] IL-26 Confers Proinflammatory Properties to Extracellular DNA
      Caroline Poli, Jean-François Augusto, Jonathan Dauvé, Clément Adam, Laurence Preisser, Vincent Larochette, Pascale Pignon, Ariel Savina, Simon Blanchard, Jean-François Subra, Alain Chevailler, Vincent Procaccio, Anne Croué, Christophe Créminon, Alain Morel, Yves Delneste, Helmut Fickenscher, Pascale Jeannin.
      https://www.hal.inserm.fr/inserm-01514382
    • [59] Targeted Metabolomics Reveals Early Dominant Optic Atrophy Signature in Optic Nerves of Opa1 delTTAG/+ Mice
      Juan Manuel Chao de la Barca, Gilles Simard, Emmanuelle Sarzi, Tanguy Chaumette, Guillaume Rousseau, Stéphanie Chupin, Cédric Gadras, Lydie Tessier, Marc Ferré, Arnaud Chevrollier, Valérie Desquiret-Dumas, Naïg Gueguen, Stéphanie Leruez, Christophe Verny, Dan Milea, Dominique Bonneau, Patrizia Amati-Bonneau, Vincent Procaccio, Christian Hamel, Guy Lenaers, Pascal Reynier, Delphine Prunier-Mirebeau.
      https://hal.archives-ouvertes.fr/hal-01784466
    • [60] A Nontargeted UHPLC-HRMS Metabolomics Pipeline for Metabolite Identification: Application to Cardiac Remote Ischemic Preconditioning
      Judith Kouassi Nzoughet, Cinzia Bocca, Gilles Simard, Delphine Prunier-Mirebeau, Juan Manuel Chao de la Barca, Dominique Bonneau, Vincent Procaccio, Fabrice Prunier, Guy Lenaers, Pascal Reynier.
      https://hal.archives-ouvertes.fr/hal-02544712
    • [61] Targeted metabolomics reveals reduced levels of polyunsaturated choline plasmalogens and a smaller dimethylarginine/arginine ratio in the follicular fluid of patients with a diminished ovarian reserve
      Juan Manuel Chao de la Barca, Thomas Boueilh, Gilles Simard, Lisa Boucret, Véronique Ferré-L’hotellier, Lydie Tessier, Cédric Gadras, Pierre-Emmanuel Bouet, Philippe Descamps, Vincent Procaccio, Pascal Reynier, Pascale May-Panloup.
      https://hal.archives-ouvertes.fr/hal-02104345
    • [62] Multiethnic involvement in autosomal-dominant optic atrophy in Singapore
      J Loo, S Singhal, A Rukmini, S Tow, Patrizia Amati-Bonneau, Vincent Procaccio, Dominique Bonneau, J Gooley, Pascal Reynier, Marc Ferré, Dan Milea.
      https://hal.archives-ouvertes.fr/hal-02104157
    • [63] Novel gene mutation in an atypical late-onset mitochondrial form of multifocal dystonia
      Céline Bris, Tiphaine Rouaud, Valérie Desquiret-Dumas, Naïg Gueguen, David Goudenège, Magalie Barth, Dominique Bonneau, Patrizia Amati-Bonneau, Guy Lenaers, Pascal Reynier, Anne-Sophie Lebre, Vincent Procaccio.
      https://hal.archives-ouvertes.fr/hal-01964498
    • [64] The mitochondrial DNA content of cumulus granulosa cells is linked to embryo quality
      Valérie Desquiret-Dumas, A Clément, Valérie Seegers, Lisa Boucret, Véronique Ferré-L’hotellier, Pierre-Emmanuel Bouet, Philippe Descamps, Vincent Procaccio, Pascal Reynier, Pascale May-Panloup.
      https://hal.archives-ouvertes.fr/hal-02056620
    • [65] CLUH couples mitochondrial distribution to the energetic and metabolic status
      Jamal Wakim, David Goudenege, Rodolphe Perrot, Naig Gueguen, Valerie Desquiret-Dumas, Juan Manuel Chao de la Barca, Ilaria Dalla Rosa, Florence Manero, Morgane Le Mao, Stephanie Chupin, Arnaud Chevrollier, Vincent Procaccio, Dominique Bonneau, David C Logan, Pascal Reynier, Guy Lenaers, Salim Khiati.
      https://hal.archives-ouvertes.fr/hal-01601889
    • [66] High-throughput sequencing revealed a novel SETX mutation in a Hungarian patient with amyotrophic lateral sclerosis
      Kornélia Tripolszki, Dóra Török, David Goudenège, Katalin Farkas, Adrienn Sulák, Nóra Török, József Engelhardt, Péter Klivényi, Vincent Procaccio, Nikoletta Nagy, Márta Széll.
      https://hal.archives-ouvertes.fr/hal-02083130

      2016

    • [67] Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy
      Estelle Colin, Jens Daniel, Alban Ziegler, Jamal Wakim, Aurora Scrivo, Tobias B. Haack, Salim Khiati, Anne-Sophie Denommé, Patrizia Amati-Bonneau, Majida Charif, Vincent Procaccio, Pascal Reynier, Kyrieckos A. Aleck, Lorenzo D. Botto, Claudia Lena Herper, Charlotte Sophia Kaiser, Rima Nabbout, Sylvie N'Guyen, José Antonio Mora-Lorca, Birgit Assmann, Stine Christ, Thomas Meitinger, Tim M. Strom, Holger Prokisch, Frex Consortium, Antonio Miranda-Vizuete, Georg F. Hoffmann, Guy Lenaers, Pascale Bomont, Eva Liebau, Dominique Bonneau.
      https://hal.archives-ouvertes.fr/hal-01831597
    • [68] Central Role of P2Y 6 UDP Receptor in Arteriolar Myogenic Tone
      Gilles Kauffenstein, Sophie Tamareille, Fabrice Prunier, Charlotte Roy, Audrey Ayer, Bertrand Toutain, Marie Billaud, Brant Isakson, Linda Grimaud, Laurent Loufrani, Pascal Rousseau, Pierre Abraham, Vincent Procaccio, Hannah Monyer, Cor de Wit, Jean-Marie Boeynaems, Bernard Robaye, Brenda Kwak, Daniel Henrion.
      https://hal.archives-ouvertes.fr/hal-02346905
    • [69] Resveratrol Improved Flow-Mediated Outward Arterial Remodeling in Ovariectomized Rats with Hypertrophic Effect at High Dose
      Marie Petit, Anne-Laure Guihot, Linda Grimaud, Emilie Vessières, Bertrand Toutain, Marie-Claude Menet, Valérie Nivet-Antoine, Jean-François Arnal, Laurent Loufrani, Vincent Procaccio, Daniel Henrion.
      https://hal.archives-ouvertes.fr/hal-02346917
    • [70] Ovarian ageing: the role of mitochondria in oocytes and follicles
      Pascale May-Panloup, Lisa Boucret, Juan Manuel Chao de la Barca, Valérie Desquiret-Dumas, Véronique Ferré-L’hotellier, Catherine Morinière, Philippe Descamps, Vincent Procaccio, Pascal Reynier.
      https://hal.archives-ouvertes.fr/hal-02056613
    • [71] The metabolomic signature of Leber's hereditary optic neuropathy reveals endoplasmic reticulum stress
      Juan Manuel Chao de la Barca, Gilles Simard, Patrizia Amati-Bonneau, Zainab Safiedeen, Delphine Mirebeau-Prunier, Stéphanie Chupin, Cédric Gadras, Lydie Tessier, Naïg Gueguen, Arnaud Chevrollier, Valérie Desquiret-Dumas, Marc Ferré, Céline Bris, Judith Kouassi Nzoughet, Cinzia Bocca, Stéphanie Leruez, Christophe Verny, Dan Milea, Dominique Bonneau, Guy Lenaers, M. Carmen Martinez, Vincent Procaccio, Pascal Reynier.
      https://hal.archives-ouvertes.fr/hal-02103390
    • [72] Increased mitochondrial fusion in a autosomal recessive CMT2A family with mitochondrial GTPase mitofusin 2 mutations
      Philippe Codron, Arnaud Chevrollier, Mariame-Selma Kane, Andoni Echaniz-Laguna, Philippe Latour, Pascal Reynier, Dominique Bonneau, Christophe Verny, Vincent Procaccio, Guy Lenaers, Julien Cassereau.
      https://hal.archives-ouvertes.fr/hal-02104500
    • [73] Central Role of P2Y6 UDP Receptor in Arteriolar Myogenic ToneHighlights
      Gilles Kauffenstein, Sophie Tamareille, Fabrice Prunier, Charlotte Roy, Audrey Ayer, Bertrand Toutain, Marie Billaud, Brant Isakson, Linda Grimaud, Laurent Loufrani, Pascal Rousseau, Pierre Abraham, Vincent Procaccio, Hannah Monyer, Cor de Wit, Jean-Marie Boeynaems, Bernard Robaye, Brenda Kwak, Daniel Henrion.
      https://hal.archives-ouvertes.fr/hal-01396750
    • [74] Resveratrol Improved Flow-Mediated Outward Arterial Remodeling in Ovariectomized Rats with Hypertrophic Effect at High Dose
      Marie Petit, Anne-Laure Guihot, Linda Grimaud, Emilie Vessieres, Bertrand Toutain, Marie-Claude Menet, Valerie Nivet-Antoine, Jean-François Arnal, Laurent Loufrani, Vincent Procaccio, Daniel Henrion.
      https://hal.archives-ouvertes.fr/hal-01397222
    • [75] The addition of ketone bodies alleviates mitochondrial dysfunction by restoring complex I assembly in a MELAS cellular model
      Samuel Frey, Guillaume Geffroy, Valérie Desquiret-Dumas, Naig Guegen, Celine Bris, Sophie Belal, Patrizia Amati-Bonneau, Arnaud Chevrollier, Magalie Barth, Daniel Henrion, Guy Lenaers, Dominique Bonneau, Pascal Reynier, Vincent Procaccio.
      https://hal.archives-ouvertes.fr/hal-01396751

      2015

    • [76] Yeast as a system for modeling mitochondrial disease mechanisms and discovering therapies.
      Jean-Paul Lasserre, Alain Dautant, Raeka S Aiyar, Roza Kucharczyk, Annie Glatigny, Déborah Tribouillard-Tanvier, Joanna Rytka, Marc Blondel, Natalia Skoczen, Pascal Reynier, Laras Pitayu, Agnès Rötig, Agnès Delahodde, Lars M Steinmetz, Geneviève Dujardin, Vincent Procaccio, Jean-Paul Di Rago.
      https://hal.archives-ouvertes.fr/hal-01199669
    • [77] Relationship between diminished ovarian reserve and mitochondrial biogenesis in cumulus cells
      Lisa Boucret, Juan Manuel Chao de la Barca, Catherine Morinière, Valérie Desquiret-Dumas, Véronique Ferré-L’hotellier, Philippe Descamps, C. Marcaillou, Pascal Reynier, Vincent Procaccio, Pascale May-Panloup.
      https://hal.archives-ouvertes.fr/hal-02056608
    • [78] Mutation in NDUFA13/GRIM19 leads to early onset hypotonia, dyskinesia and sensorial deficiencies, and mitochondrial complex I instability
      Claire Angebault Prouteau, Majida Charif, Naig Guegen, Camille Piro-Mégy, Bénédicte Mousson de Camaret, Vincent Procaccio, Pierre-Olivier Guichet, Maxime Hebrard, Gael Manes, Nicolas Leboucq, Francois Rivier, Christian Hamel, Guy Lenaers, Agathe Roubertie.
      https://hal.archives-ouvertes.fr/hal-01392228
    • [79] Resveratrol Directly Binds to Mitochondrial Complex I and Increases Oxidative Stress in Brain Mitochondria of Aged Mice
      Naig Guegen, Valérie Desquiret-Dumas, Géraldine Leman, Stéphanie Chupin, Stéphanie Baron, Valerie Nivet-Antoine, Emilie Vessieres, Audrey Ayer, Daniel Henrion, Guy Lenaers, Pascal Reynier, Vincent Procaccio.
      https://hal.archives-ouvertes.fr/hal-01397213
    • [80] Optic neuropathy, cardiomyopathy, cognitive disability in patients with a homozygous mutation in the nuclear MTO1 and a mitochondrial MT-TF variant
      Majida Charif, Salah Mohamed Cherif Titah, Agathe Roubertie, Valérie Desquiret-Dumas, Naig Guegen, Isabelle Meunier, Jean Leid, Frédéric Massal, Xavier Zanlonghi, Jacques Mercier, Eric Raynaud de Mauverger, Vincent Procaccio, Bénédicte Mousson de Camaret, Guy Lenaers, Christian Hamel.
      https://hal.archives-ouvertes.fr/hal-01389203
    • [81] Optic neuropathy, cardiomyopathy, cognitive disability in patients with a homozygous mutation in the nuclear MTO1 and a mitochondrial MT-TF variant
      Majida Charif, Salah Mohamed Cherif Titah, Agathe Roubertie, Valerie Desquiret-Dumas, Naig Gueguen, Isabelle Meunier, Jean Leid, Frédéric Massal, Xavier Zanlonghi, Jacques Mercier, E. Raynaud, Vincent Procaccio, Bénédicte Mousson de Camaret, Guy Lenaers, Christian Hamel.
      https://hal.umontpellier.fr/hal-01756203
    • [82] Assembly defects induce oxidative stress in inherited mitochondrial complex I deficiency
      Géraldine Leman, Naig Guegen, Valérie Desquiret-Dumas, Mariame Kane, Céline Wetterwald, Stéphanie Chupin, Arnaud Chevrollier, Anne-Sophie Lebre, Jean-Paul Bonnefont, Magalie Barth, Patrizia Amati-Bonneau, Christophe Verny, Daniel Henrion, Dominique Bonneau, Pascal Reynier, Vincent Procaccio.
      https://hal.archives-ouvertes.fr/hal-01399131
    • [83] OPA1-related disorders: Diversity of clinical expression, modes of inheritance and pathophysiology
      Juan Manuel Chao de la Barca, Delphine Mirebeau-Prunier, Patrizia Amati-Bonneau, Marc Ferré, Emmanuelle Sarzi, Céline Bris, Stéphanie Leruez, Arnaud Chevrollier, Valérie Desquiret-Dumas, Naig Guegen, Christophe Verny, Christian Hamel, Dan Milea, Vincent Procaccio, Dominique Bonneau, Guy Lenaers, Pascal Reynier.
      https://hal.archives-ouvertes.fr/hal-01392230

      2014

    • [84] Determinants of flow-mediated outward remodeling in female rodents: respective roles of age, estrogens, and timing.
      Kahena Tarhouni, Anne-Laure Guihot, Emilie Vessières, Bertrand Toutain, Vincent Procaccio, Linda Grimaud, Laurent Loufrani, Francoise Lenfant, Jean-Francois Arnal, Daniel Henrion.
      https://www.hal.inserm.fr/inserm-01015758

      2013

    • [85] Is ABCC6 a genuine mitochondrial protein?
      Marc Ferré, Pascal Reynier, Arnaud Chevrollier, Delphine Prunier-Mirebeau, Georges Lefthériotis, Daniel Henrion, Dominique Bonneau, Vincent Procaccio, Ludovic Martin.
      https://www.hal.inserm.fr/inserm-00877607

      2012

    • [86] Dominant optic atrophy.
      Guy Lenaers, Christian Hamel, Cécile Delettre, Patrizia Amati-Bonneau, Vincent Procaccio, Dominique Bonneau, Pascal Reynier, Dan Milea.
      https://www.hal.inserm.fr/inserm-00767364

      2011

    • [87] A locus-specific database for mutations in GDAP1 allows analysis of genotype-phenotype correlations in Charcot-Marie-Tooth diseases type 4A and 2K.
      Julien Cassereau, Arnaud Chevrollier, Dominique Bonneau, Christophe Verny, Vincent Procaccio, Pascal Reynier, Marc Ferré.
      https://www.hal.inserm.fr/inserm-00683147
    • [88] Idebenone increases mitochondrial complex I activity in fibroblasts from LHON patients while producing contradictory effects on respiration.
      Claire Angebault, Naïg Gueguen, Valérie Desquiret-Dumas, Arnaud Chevrollier, Virginie Guillet, Christophe Verny, Julien Cassereau, Marc Ferre, Dan Milea, Patrizia Amati-Bonneau, Dominique Bonneau, Vincent Procaccio, Pascal Reynier, Dominique Loiseau.
      https://www.hal.inserm.fr/inserm-00673659

      2009

    • [89] Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations.
      Marc Ferré, Dominique Bonneau, Dan Milea, Arnaud Chevrollier, Christophe Verny, Hélène Dollfus, Carmen Ayuso, Sabine Defoort, Catherine Vignal, Xavier Zanlonghi, Jean-Francois Charlin, Josseline Kaplan, Sylvie Odent, Christian Hamel, Vincent Procaccio, Pascal Reynier, Patrizia Amati-Bonneau.
      https://www.hal.inserm.fr/inserm-00372261

      2008

    • [90] Hereditary optic neuropathies share a common mitochondrial coupling defect.
      Arnaud Chevrollier, Virginie Guillet, Dominique Loiseau, Naïg Gueguen, Marie-Anne Pou de Crescenzo, Christophe Verny, Marc Ferre Eng, Hélène Dollfus, Sylvie Odent, Dan Milea, Cyril Goizet, Patrizia Amati-Bonneau, Vincent Procaccio, Dominique Bonneau, Pascal Reynier.
      https://hal.archives-ouvertes.fr/hal-00282865
    • [91] Reversible optic neuropathy with OPA1 exon 5b mutation.
      Karen Cornille, Dan Milea, Patrizia Amati-Bonneau, Vincent Procaccio, Lydie Zazoun, Virginie Guillet, Ghizlane El Achouri, Cécile Delettre, Naïg Gueguen, Dominique Loiseau, Agnès Muller, Marc Ferré, Arnaud Chevrollier, Douglas Wallace, Dominique Bonneau, Christian Hamel, Pascal Reynier, Guy Lenaers.
      https://www.hal.inserm.fr/inserm-00287509

      2005

    • [92] Friedreich ataxia: the oxidative stress paradox.
      Hervé Seznec, Delphine Simon, Cécile Bouton, Laurence Reutenauer, Ariane Hertzog, Pawel Golik, Vincent Procaccio, Manisha Patel, Jean-Claude Drapier, Michel Koenig, Hélène Puccio.
      https://hal.archives-ouvertes.fr/hal-00187760

      1998

    • [93] Genomic structure of the human NDUFS8 gene coding for the iron–sulfur TYKY subunit of the mitochondrial NADH:ubiquinone oxidoreductase
      Régis de Sury, Pascal Martinez, Vincent Procaccio, Joel Lunardi, Jean-Paul Issartel.
      https://hal.archives-ouvertes.fr/hal-02445640
    • [94] Two-dimensional electrophoresis of human placental mitochondria and protein identification by mass spectrometry: Toward a human mitochondrial proteome
      Thierry Rabilloud, Sylvie Kieffer, Vincent Procaccio, Mathilde Louwagie, Paul Courchesne, Scott Patterson, Pascal Martinez, Jérôme Garin, Joel Lunardi.
      https://hal.archives-ouvertes.fr/hal-02445445
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Groupement de Recherche en Intégration de données Omics à Très grande Echelle