Bilaketaren emaitzak - Emmanuelle Lacène

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  1. 1
    Apoptosis in mitochondrial myopathies is linked to mitochondrial proliferation

    Apoptosis in mitochondrial myopathies is linked to mitochondrial proliferation nork Karine Auré, G. Fayet, Jean Paul Leroy, Emmanuelle Lacène, Norma B. Romero, Anne Lombès

    Argitaratua 2006
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  2. 2
    A Premature Stop Codon in MYO18B is Associated with Severe Nemaline Myopathy with Cardiomyopathy

    A Premature Stop Codon in MYO18B is Associated with Severe Nemaline Myopathy with Cardiomyopathy nork Edoardo Malfatti, Johann Böhm, Emmanuelle Lacène, Maud Beuvin, Guy Brochier, Norma B. Romero, Jocelyn Laporte

    Argitaratua 2015
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  3. 3
    New insights about myofibrillar myopathies: the role of metalloproteinases 2 and 9 in the pathogenesis

    New insights about myofibrillar myopathies: the role of metalloproteinases 2 and 9 in the pathogenesis nork Alzira Alves de Siqueira Carvalho, Vinicius Gomes Silva, Alan Patrício da Silva, Roseli Corazzini, Emmanuelle Lacène

    Argitaratua 2022
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  4. 4
    New insights about myofibrillar myopathies: the role of metalloproteinases 2 and 9 in the pathogenesis

    New insights about myofibrillar myopathies: the role of metalloproteinases 2 and 9 in the pathogenesis nork Alzira Alves de Siqueira Carvalho, Vinicius Gomes Silva, Roseli Corazzini, Alan Patrício da Silva, Emmanuelle Lacène

    Argitaratua 2020
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  5. 5
    Deletion of Murine <i>SMN</i> Exon 7 Directed to Skeletal Muscle Leads to Severe Muscular Dystrophy

    Deletion of Murine <i>SMN</i> Exon 7 Directed to Skeletal Muscle Leads to Severe Muscular Dystrophy nork Carmen Cifuentes-Díaz, Tony Frugier, Francesco Danilo Tiziano, Emmanuelle Lacène, Natacha Roblot, Vandana Joshi, Marie Helene Moreau, Judith Melki

    Argitaratua 2001
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  6. 6
    DelK32-lamin A/C has abnormal location and induces incomplete tissue maturation and severe metabolic defects leading to premature death

    DelK32-lamin A/C has abnormal location and induces incomplete tissue maturation and severe metabolic defects leading to premature death nork A. Bertrand, Laure Renou, Aurélie Papadopoulos, Maud Beuvin, Emmanuelle Lacène, Catherine Massart, Chris Ottolenghi, V. Decostre, Sophia Maron, Saskia Schlossarek, Marie‐Elodie Cattin, Lucie Carrier, Marie Malissen, Takuro Arimura, Gisèle Bonne

    Argitaratua 2011
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  7. 7
    Clathrin plaques and associated actin anchor intermediate filaments in skeletal muscle

    Clathrin plaques and associated actin anchor intermediate filaments in skeletal muscle nork Agathe Franck, Jeanne Lainé, Gilles Moulay, Eline Lemerle, Michaël Trichet, Christel Gentil, Sofia Benkhelifa‐Ziyyat, Emmanuelle Lacène, Mai Thao Bui, Guy Brochier, Pascale Guicheney, Norma B. Romero, Marc Bitoun, Stéphane Vassilopoulos

    Argitaratua 2019
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  8. 8
    Mouse model carrying H222P- Lmna mutation develops muscular dystrophy and dilated cardiomyopathy similar to human striated muscle laminopathies

    Mouse model carrying H222P- Lmna mutation develops muscular dystrophy and dilated cardiomyopathy similar to human striated muscle laminopathies nork Takuro Arimura, A. Leclerc, Catherine Massart, Shaïda Varnous, Florence Niel, Emmanuelle Lacène, Yves Fromes, Marcel Toussaint, Anne‐Marie Mura, Dagmar I. Keller, Helge Amthor, Richard Isnard, Marie Malissen, Ketty Schwartz, Gisèle Bonne

    Argitaratua 2004
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  9. 9
    ‘Dusty core disease’ (DuCD): expanding morphological spectrum of RYR1 recessive myopathies

    ‘Dusty core disease’ (DuCD): expanding morphological spectrum of RYR1 recessive myopathies nork Matteo Garibaldi, John Rendu, Julie Brocard, Emmanuelle Lacène, Julien Fauré, Guy Brochier, Maud Beuvin, C. Labasse, A. Madelaine, Edoardo Malfatti, Jorge A. Bevilacqua, Fabiana Lubieniecki, Soledad Monges, Ana Lía Taratuto, Jocelyn Laporte, Isabelle Marty, Giovanni Antonini, Norma B. Romero

    Argitaratua 2019
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  10. 10
    Mutations of the FHL1 Gene Cause Emery-Dreifuss Muscular Dystrophy

    Mutations of the FHL1 Gene Cause Emery-Dreifuss Muscular Dystrophy nork Lucie Gueneau, A. Bertrand, Jean‐Philippe Jaïs, Mustafa A. Salih, Tanya Stojkovic, Manfred Wehnert, Maria Hoeltzenbein, Simone Spuler, Shinji Saitoh, Annie Verschueren, Christine Tranchant, Maud Beuvin, Emmanuelle Lacène, Norma B. Romero, Simon Heath, Diana Zélénika, Thomas Voït, B. Eymard, Rabah Ben Yaou, Gisèle Bonne

    Argitaratua 2009
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  11. 11
    QIL1 mutation causes MICOS disassembly and early onset fatal mitochondrial encephalopathy with liver disease

    QIL1 mutation causes MICOS disassembly and early onset fatal mitochondrial encephalopathy with liver disease nork Virgínia Guarani, Claude Jardel, Dominique Chrétien, Anne Lombès, Paule Bénit, C. Labasse, Emmanuelle Lacène, Agnès Bourillon, Apolline Imbard, Jean‐François Benoist, Imen Dorboz, Martine Gilleron, Eric S. Goetzman, Pauline Gaignard, Abdelhamid Slama, Monique Elmaleh, Norma B. Romero, Pierre Rustin, Hélène Ogier de Baulny, João A. Paulo, J. Wade Harper, Manuel Schiff

    Argitaratua 2016
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  12. 12
    Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy

    Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy nork Stéphanie Bauché, Geoffroy Vellieux, Damien Sternberg, Marie‐Joséphine Fontenille, Elodie De Bruyckere, Claire-Sophie Davoine, Guy Brochier, Julien Messéant, Lucie Wolf, Michel Fardeau, Emmanuelle Lacène, Norma B. Romero, Jeanine Koenig, Emmanuel Fournier, Daniel Hantaı̈, Nathalie Streichenberger, Véronique Manel, Arnaud Lacour, Aleksandra Nadaj‐Pakleza, Sylvie Sukno, Françoise Bouhour, Pascal Laforêt, Bertrand Fontaine, Laure Strochlic, B. Eymard, Frédéric Chevessier, Tanya Stojkovic, Sophie Nicole

    Argitaratua 2017
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  13. 13
    Early onset collagen VI myopathies: Genetic and clinical correlations

    Early onset collagen VI myopathies: Genetic and clinical correlations nork Laura Briñas, Pascale Richard, Susana Quijano‐Roy, Corine Gartioux, C. Ledeuil, Emmanuelle Lacène, S. Makri, Ana Ferreiro, Svetlana Maugenre, Haluk Topaloğlu, Göknur Haliloğlu, I. Pénisson-Besnier, Pierre‐Yves Jeannet, Luciano Merlini, Carmen Navarro, Annick Toutain, Denys Chaigne, Isabelle Desguerre, Christine de Die‐Smulders, Murielle Dunand, Bernard Échenne, B. Eymard, Thierry Küntzer, Kim Maincent, M. Mayer, Ghislaine Plessis, François Rivier, Filip Roelens, Tanya Stojkovic, Ana Lía Taratuto, Fabiana Lubieniecki, Soledad Monges, Christine Tranchant, Louis Viollet, Norma B. Romero, B. Estournet, Pascale Guicheney, Valérie Allamand

    Argitaratua 2010
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  14. 14
    Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea

    Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea nork Stéphanie Bauché, S O’Regan, Yoshiteru Azuma, Fanny Laffargue, Grace McMacken, Damien Sternberg, Guy Brochier, Céline Buon, Nassima Bouzidi, Ana Töpf, Emmanuelle Lacène, Ganaëlle Remérand, A. M. Beaufrére, Céline Pebrel‐Richard, Julien Thévenon, Salima El Chehadeh-Djebbar, Laurence Faivre, Yannis Duffourd, Federica Ricci, Tiziana Mongini, Chiara Fiorillo, Guja Astrea, Carmen Burloiu, Niculina Butoianu, Carmen Sandu, Laurent Servais, Gisèle Bonne, Isabelle Nelson, Isabelle Desguerre, Marie-Christine Nougues, Benoît Bœuf, Norma B. Romero, Jocelyn Laporte, Anne Boland, Doris Lechner, Jean‐François Deleuze, Bertrand Fontaine, Laure Strochlic, Hanns Lochmüller, B. Eymard, M. Mayer, Sophie Nicole

    Argitaratua 2016
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