Ohcanbohtosat - Patrizia Amati‐Bonneau

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

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

    Almmustuhtton 2005
    Viečča ollesdeavstta
    Artigo
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  2. 2
    Dominant optic atrophy

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

    Almmustuhtton 2012
    Viečča ollesdeavstta Viečča ollesdeavstta
    Revisão
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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 Dahkki Céline Bris, David Goudenège, Valérie Desquiret‐Dumas, Majida Charif, Estelle Colin, Dominique Bonneau, Patrizia Amati‐Bonneau, Guy Lenaers, Pascal Reynier, Vincent Procaccio

    Almmustuhtton 2018
    Viečča ollesdeavstta Viečča ollesdeavstta
    Revisão
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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 Dahkki Marc Ferré, Angélique Caignard, Dan Miléa, Stéphanie Leruez, Julien Cassereau, Arnaud Chevrollier, Patrizia Amati‐Bonneau, Christophe Verny, Dominique Bonneau, Vincent Procaccio, Pascal Reynier

    Almmustuhtton 2014
    Viečča ollesdeavstta
    Artigo
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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 Dahkki 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

    Almmustuhtton 2017
    Viečča ollesdeavstta Viečča ollesdeavstta
    Artigo
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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 Dahkki 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

    Almmustuhtton 2006
    Viečča ollesdeavstta
    Artigo
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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 Dahkki 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

    Almmustuhtton 2011
    Viečča ollesdeavstta Viečča ollesdeavstta
    Artigo
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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 Dahkki 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

    Almmustuhtton 2016
    Viečča ollesdeavstta
    Artigo
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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 Dahkki 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

    Almmustuhtton 2019
    Viečča ollesdeavstta Viečča ollesdeavstta
    Artigo
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  10. 10
    MFN2, a new gene responsible for mitochondrial DNA depletion

    MFN2, a new gene responsible for mitochondrial DNA depletion Dahkki 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

    Almmustuhtton 2012
    Viečča ollesdeavstta Viečča ollesdeavstta
    Carta
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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 Dahkki 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

    Almmustuhtton 2018
    Viečča ollesdeavstta Viečča ollesdeavstta
    Artigo
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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 Dahkki 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

    Almmustuhtton 2009
    Viečča ollesdeavstta Viečča ollesdeavstta
    Artigo
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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 Dahkki 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

    Almmustuhtton 2007
    Viečča ollesdeavstta Viečča ollesdeavstta
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  14. 14
    Nicotinamide Deficiency in Primary Open-Angle Glaucoma

    Nicotinamide Deficiency in Primary Open-Angle Glaucoma Dahkki 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

    Almmustuhtton 2019
    Viečča ollesdeavstta Viečča ollesdeavstta
    Artigo
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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 Dahkki 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

    Almmustuhtton 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 Dahkki 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

    Almmustuhtton 2014
    Viečča ollesdeavstta Viečča ollesdeavstta
    Carta
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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 Dahkki 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

    Almmustuhtton 2018
    Viečča ollesdeavstta
    Artigo
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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... Dahkki 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

    Almmustuhtton 2009
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    Artigo
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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 Dahkki 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

    Almmustuhtton 2007
    Viečča ollesdeavstta Viečča ollesdeavstta
    Artigo
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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 Dahkki 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

    Almmustuhtton 2016
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    Artigo
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