Suchergebnisse - Patrizia Amati‐Bonneau

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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 von Marc Ferré, Patrizia Amati‐Bonneau, Yves Tourmen, Yves Malthièry, Pascal Reynier

    Veröffentlicht 2005
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  2. 2
    Dominant optic atrophy

    Dominant optic atrophy von Guy Lenaers, Christian P. Hamel, Cécile Delettre, Patrizia Amati‐Bonneau, Vincent Procaccio, Dominique Bonneau, Pascal Reynier, Dan Miléa

    Veröffentlicht 2012
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  3. 3
    Bioinformatics Tools and Databases to Assess the Pathogenicity of Mitochondrial DNA Variants in the Field of Next Generation Sequencing

    Bioinformatics Tools and Databases to Assess the Pathogenicity of Mitochondrial DNA Variants in the Field of Next Generation Sequencing von Céline Bris, David Goudenège, Valérie Desquiret‐Dumas, Majida Charif, Estelle Colin, Dominique Bonneau, Patrizia Amati‐Bonneau, Guy Lenaers, Pascal Reynier, Vincent Procaccio

    Veröffentlicht 2018
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  4. 4
    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 von Marc Ferré, Angélique Caignard, Dan Miléa, Stéphanie Leruez, Julien Cassereau, Arnaud Chevrollier, Patrizia Amati‐Bonneau, Christophe Verny, Dominique Bonneau, Vincent Procaccio, Pascal Reynier

    Veröffentlicht 2014
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  5. 5
    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 von 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

    Veröffentlicht 2017
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  6. 6
    Effects of OPA1 mutations on mitochondrial morphology and apoptosis: Relevance to ADOA pathogenesis

    Effects of OPA1 mutations on mitochondrial morphology and apoptosis: Relevance to ADOA pathogenesis von Aurélien Olichon, Thomas Landes, Laetitia Pelloquin, Laurent J. Emorine, Valérie Mils, Agnès Guichet, Cécile Delettre, Christian Hamel, Patrizia Amati‐Bonneau, Dominique Bonneau, Pascal Reynier, Guy Lenaers, Pascale Belenguer

    Veröffentlicht 2006
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  7. 7
    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 von 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

    Veröffentlicht 2011
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  8. 8
    The addition of ketone bodies alleviates mitochondrial dysfunction by restoring complex I assembly in a MELAS cellular model

    The addition of ketone bodies alleviates mitochondrial dysfunction by restoring complex I assembly in a MELAS cellular model von Samuel Frey, Guillaume Geffroy, Valérie Desquiret‐Dumas, Naïg Guéguen, Céline Bris, Sophie Belal, Patrizia Amati‐Bonneau, Arnaud Chevrollier, Magalie Barth, Daniel Henrion, Guy Lenaers, Dominique Bonneau, Pascal Reynier, Vincent Procaccio

    Veröffentlicht 2016
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  9. 9
    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 von 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

    Veröffentlicht 2019
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  10. 10
    MFN2, a new gene responsible for mitochondrial DNA depletion

    MFN2, a new gene responsible for mitochondrial DNA depletion von Florence Renaldo, Patrizia Amati‐Bonneau, Abdelhamid Slama, C. Romaña, V. Forin, Diane Doummar, Christine Barnérias, Joseph Bursztyn, M. Mayer, N. Khouri, Thierry Billette de Villemeur, Lydie Bürglen, Pascal Reynier, A. Gélot, Diana Rodriguez

    Veröffentlicht 2012
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  11. 11
    eKLIPse: a sensitive tool for the detection and quantification of mitochondrial DNA deletions from next-generation sequencing data

    eKLIPse: a sensitive tool for the detection and quantification of mitochondrial DNA deletions from next-generation sequencing data von David Goudenège, Céline Bris, Virginie Hoffmann, Valérie Desquiret‐Dumas, Claude Jardel, Benoît Rucheton, Sylvie Bannwarth, Véronique Paquis‐Flucklinger, Anne Sophie Lebre, Estelle Colin, Patrizia Amati‐Bonneau, Dominique Bonneau, Pascal Reynier, Guy Lenaers, Vincent Procaccio

    Veröffentlicht 2018
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  12. 12
    Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel<i>OPA1</i>mutations

    Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel<i>OPA1</i>mutations von Marc Ferré, Dominique Bonneau, Dan Miléa, Arnaud Chevrollier, Christophe Verny, Hélène Dollfus, Carmen Ayuso, Sabine Defoort, Catherine Vignal, Xavier Zanlonghi, Jean-François Charlin, Josseline Kaplan, Sylvie Odent, Christian P. Hamel, Vincent Procaccio, Pascal Reynier, Patrizia Amati‐Bonneau

    Veröffentlicht 2009
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  13. 13
    Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance

    Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance von Gavin Hudson, Patrizia Amati‐Bonneau, Emma L. Blakely, Joanna D. Stewart, Langping He, Andrew M. Schaefer, Philip G. Griffiths, Kati J. Ahlqvist, Anu Suomalainen, Pascal Reynier, Robert McFarland, Douglass M. Turnbull, Patrick F. Chinnery, Robert W. Taylor

    Veröffentlicht 2007
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  14. 14
    Nicotinamide Deficiency in Primary Open-Angle Glaucoma

    Nicotinamide Deficiency in Primary Open-Angle Glaucoma von 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 Miléa, Guy Lenaers, Vincent Procaccio, Pascal Reynier

    Veröffentlicht 2019
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  15. 15
    OPA1 R445H mutation in optic atrophy associated with sensorineural deafness

    OPA1 R445H mutation in optic atrophy associated with sensorineural deafness von Patrizia Amati‐Bonneau, Agnès Guichet, Aurélien Olichon, Arnaud Chevrollier, Frédérique Viala, Stéphanie Miot, Carmen Ayuso, Sylvie Odent, Catherine Arrouet, Christophe Verny, M. Calmels, Gilles Simard, Pascale Belenguer, Jing Wang, Jean‐Luc Puel, Christian Hamel, Yves Malthièry, Dominique Bonneau, Guy Lenaers, Pascal Reynier

    Veröffentlicht 2005
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  16. 16
    Early-onset Behr syndrome due to compound heterozygous mutations in OPA1

    Early-onset Behr syndrome due to compound heterozygous mutations in OPA1 von 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

    Veröffentlicht 2014
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  17. 17
    A Metabolomics Profiling of Glaucoma Points to Mitochondrial Dysfunction, Senescence, and Polyamines Deficiency

    A Metabolomics Profiling of Glaucoma Points to Mitochondrial Dysfunction, Senescence, and Polyamines Deficiency von 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 Miléa, Vincent Procaccio, Pascal Reynier, Juan Manuel Chao de la Barca

    Veröffentlicht 2018
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  18. 18
    MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations

    MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or ce... von Nathalie Le Meur, Muriel Holder‐Espinasse, Sylvie Jaillard, Alice Goldenberg, Sylvie Joriot, Patrizia Amati‐Bonneau, Agnès Guichet, M. Barth, Aude Charollais, Hubert Journel, Stéphane Auvin, Cécile Boucher, Jean Pierre Kerckaert, Véronique David, Sylvie Manouvrier‐Hanu, Pascale Saugier‐Veber, Thierry Frébourg, Christèle Dubourg, Joris Andrieux, Dominique Bonneau

    Veröffentlicht 2009
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  19. 19
    Whole mitochondrial genome screening in maternally inherited non-syndromic hearing impairment using a microarray resequencing mitochondrial DNA chip

    Whole mitochondrial genome screening in maternally inherited non-syndromic hearing impairment using a microarray resequencing mitochondrial DNA chip von M. Lévêque, Sandrine Marlin, Laurence Jonard, Vincent Procaccio, Pascal Reynier, Patrizia Amati‐Bonneau, Sylvain Baulande, Denis Pierron, Didier Lacombe, F Duriez, Christine Francannet, T. Mom, Hubert Journel, Hélène Catros, Valérie Drouin‐Garraud, Marie-Françoise Obstoy, Hélène Dollfus, Marie‐Madeleine Eliot, Laurence Faivre, C. Duvillard, Rémy Couderc, Éréa-Noël Garabédian, Christine Petit, Delphine Feldmann, Françoise Denoyelle

    Veröffentlicht 2007
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  20. 20
    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 von 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

    Veröffentlicht 2016
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