Sökresultat - Isabelle Marty

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  1. 1
    Molecular interaction of dihydropyridine receptors with type-1 ryanodine receptors in rat brain

    Molecular interaction of dihydropyridine receptors with type-1 ryanodine receptors in rat brain av Jérôme Mouton, Isabelle Marty, Michel Villaz, Anne Feltz, Yves Maulet

    Publicerad 2001
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  2. 2
    A homozygous splicing mutation causing a depletion of skeletal muscle RYR1 is associated with multi-minicore disease congenital myopathy with ophthalmoplegia

    A homozygous splicing mutation causing a depletion of skeletal muscle RYR1 is associated with multi-minicore disease congenital myopathy with ophthalmoplegia av Nicole Monnier, Ana Ferreiro, Isabelle Marty, Annick Labarre‐Vila, Paulette Mezin, Joël Lunardi

    Publicerad 2003
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  3. 3
    Intracellular Ca <sup>2+</sup> Handling in Vascular Smooth Muscle Cells Is Affected by Proliferation

    Intracellular Ca <sup>2+</sup> Handling in Vascular Smooth Muscle Cells Is Affected by Proliferation av Olivier Vallot, Laurent Combettes, Philippe Jourdon, Jocelyn Inamo, Isabelle Marty, M Claret, Anne‐Marie Lompré

    Publicerad 2000
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  4. 4
    Biochemical evidence for a complex involving dihydropyridine receptor and ryanodine receptor in triad junctions of skeletal muscle.

    Biochemical evidence for a complex involving dihydropyridine receptor and ryanodine receptor in triad junctions of skeletal muscle. av Isabelle Marty, Mylène Robert, Michel Villaz, K De Jongh, Y Lai, William A. Catterall, Michel Ronjat

    Publicerad 1994
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  5. 5
    Triadin Binding to the C-Terminal Luminal Loop of the Ryanodine Receptor is Important for Skeletal Muscle Excitation–Contraction Coupling

    Triadin Binding to the C-Terminal Luminal Loop of the Ryanodine Receptor is Important for Skeletal Muscle Excitation–Contraction Coupling av Sanjeewa A. Goonasekera, Nicole A. Beard, Linda Groom, Takashi Kimura, Alla D. Lyfenko, Andrew Rosenfeld, Isabelle Marty, Angela F. Dulhunty, Robert T. Dirksen

    Publicerad 2007
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  6. 6
    Role of Myocardial Neuronal Nitric Oxide Synthase–Derived Nitric Oxide in β-Adrenergic Hyporesponsiveness After Myocardial Infarction–Induced Heart Failure in Rat

    Role of Myocardial Neuronal Nitric Oxide Synthase–Derived Nitric Oxide in β-Adrenergic Hyporesponsiveness After Myocardial Infarction–Induced Heart Failure in Rat av Jennifer K. Bendall, Thibaud Damy, Philippe Ratajczak, Xavier Loyer, Virginie Monceau, Isabelle Marty, Paul Milliez, Estelle Robidel, Françoise Marotte, Jane‐Lise Samuel, Christophe Heymes

    Publicerad 2004
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  7. 7
    Triadin Deletion Induces Impaired Skeletal Muscle Function

    Triadin Deletion Induces Impaired Skeletal Muscle Function av Sarah Oddoux, Julie Brocard, Annie Schweitzer, Péter Szentesi, Benoı̂t Giannesini, Jacques Brocard, Julien Fauré, Karine Pernet-Gallay, David Bendahan, Joël Lunardi, László Csernoch, Isabelle Marty

    Publicerad 2009
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  8. 8
    DHPR α1S subunit controls skeletal muscle mass and morphogenesis

    DHPR α1S subunit controls skeletal muscle mass and morphogenesis av France Piétri‐Rouxel, Christel Gentil, Stéphane Vassilopoulos, Dominique Baas, Étienne Mouisel, Arnaud Ferry, Alban Vignaud, Christophe Hourdé, Isabelle Marty, Laurent Schaeffer, Thomas Voït, Luis García‐García

    Publicerad 2009
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  9. 9
    Oxidative stress and successful antioxidant treatment in models of RYR1-related myopathy

    Oxidative stress and successful antioxidant treatment in models of RYR1-related myopathy av James J. Dowling, Sandrine Arbogast, Junguk Hur, Darcee D. Nelson, Anna McEvoy, Trent A. Waugh, Isabelle Marty, Joël Lunardi, Susan V. Brooks, John Y. Kuwada, Ana Ferreiro

    Publicerad 2012
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  10. 10
    Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization

    Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization av Jorge A. Bevilacqua, Nicole Monnier, Marc Bitoun, B. Eymard, Ana Ferreiro, Soledad Monges, F. Lubieniecki, Analía Taratuto, A. Laquérrière, Kristl G. Claeys, Isabelle Marty, Michel Fardeau, Pascale Guicheney, Joël Lunardi, Norma B. Romero

    Publicerad 2010
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  11. 11
    N‐<scp>WASP</scp> is required for Amphiphysin‐2/<scp>BIN</scp>1‐dependent nuclear positioning and triad organization in skeletal muscle and is involved in the pathophysiology of centronuclear myopathy

    N‐<scp>WASP</scp> is required for Amphiphysin‐2/<scp>BIN</scp>1‐dependent nuclear positioning and triad organization in skeletal muscle and is involved in the pathophysiology of ce... av Sestina Falcone, William Roman, Karim Hnia, Vincent Gache, Nathalie Didier, Jeanne Lainé, Frédéric Auradé, Isabelle Marty, Ichizo Nishino, Nicolas Charlet‐Berguerand, Norma B. Romero, Giovanna Marazzi, David Sassoon, Jocelyn Laporte, Edgar R. Gomes

    Publicerad 2014
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  12. 12
    Caveolae and Bin1 form ring-shaped platforms for T-tubule initiation

    Caveolae and Bin1 form ring-shaped platforms for T-tubule initiation av Eline Lemerle, Jeanne Lainé, Marion Benoist, Gilles Moulay, Anne Bigot, C. Labasse, A. Madelaine, Alexis Canette, Perrine Aubin, Jean‐Michel Vallat, Norma B. Romero, Marc Bitoun, Vincent Mouly, Isabelle Marty, Bruno Cadot, Laura Picas, Stéphane Vassilopoulos

    Publicerad 2023
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  13. 13
    ‘Dusty core disease’ (DuCD): expanding morphological spectrum of RYR1 recessive myopathies

    ‘Dusty core disease’ (DuCD): expanding morphological spectrum of RYR1 recessive myopathies av 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

    Publicerad 2019
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  14. 14
    An Integrated Diagnosis Strategy for Congenital Myopathies

    An Integrated Diagnosis Strategy for Congenital Myopathies av Johann Böhm, Nasim Vasli, Edoardo Malfatti, Stéphanie Le Gras, Claire Feger, Bernard Jost, Nicole Monnier, Julie Brocard, Hatice Karasoy, Marion Gérard, Maggie C. Walter, Peter Reilich, Valérie Biancalana, Christine Kretz, Nadia Messaddeq, Isabelle Marty, Joël Lunardi, Norma B. Romero, Jocelyn Laporte

    Publicerad 2013
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  15. 15
    217th ENMC International Workshop: RYR1-related myopathies, Naarden, The Netherlands, 29–31 January 2016

    217th ENMC International Workshop: RYR1-related myopathies, Naarden, The Netherlands, 29–31 January 2016 av Heinz Jungbluth, James J. Dowling, Ana Ferreiro, Francesco Muntoni, Carsten G. Bönnemann, Robert T. Dirksen, Julien Fauré, Susan L. Hamilton, Philip M. Hopkins, Andrew R. Marks, Isabelle Marty, Katy Meilleur, Sheila Riazi, Caroline A. Sewry, Susan Treves, Nicol C. Voermans, Francesco Zorzato

    Publicerad 2016
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  16. 16
    Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion

    Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion av Nigel F. Clarke, Leigh B. Waddell, Sandra T. Cooper, Margaret M. Perry, Robert L. Smith, Andrew J. Kornberg, Francesco Muntoni, Suzanne Lillis, Volker Straub, Kate Bushby, Michela Guglieri, Mary D. King, Michael A. Farrell, Isabelle Marty, Joël Lunardi, Nicole Monnier, Kathryn N. North

    Publicerad 2010
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  17. 17
    Single Delivery of an Adeno-Associated Viral Construct to Transfer the <i>CASQ2</i> Gene to Knock-In Mice Affected by Catecholaminergic Polymorphic Ventricular Tachycardia Is Able to Cure the Disease From Birth to Advanced Age

    Single Delivery of an Adeno-Associated Viral Construct to Transfer the <i>CASQ2</i> Gene to Knock-In Mice Affected by Catecholaminergic Polymorphic Ventricular Tachycardia Is Able... av Marco Denegri, Rossana Bongianino, Francesco Lodola, Simona Boncompagni, Verónica Celeste De Giusti, Josè Everardo Avelino-Cruz, Nian Liu, Simone Persampieri, Antonio Curcio, Francesca Esposito, Laura Pietrangelo, Isabelle Marty, Laura Villani, Alejandro Moyaho, Paola Baiardi, Alberto Auricchio, Feliciano Protasi, Carlo Napolitano, Silvia G. Priori

    Publicerad 2014
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  18. 18
    The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis

    The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis av Klaus Dieterich, Susana Quijano-Roy, Nicole Monnier, Jie Zhou, Julien Fauré, Daniela Avila‐Smirnow, Robert Carlier, Cécile Laroche, Pascale Marcorelles, Sandra Mercier, André Mégarbané, Sylvie Odent, Norma B. Romero, Damien Sternberg, Isabelle Marty, B. Estournet, Pierre‐Simon Jouk, Judith Melki, Joël Lunardi

    Publicerad 2012
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  19. 19
    Cardiomyocyte Overexpression of Neuronal Nitric Oxide Synthase Delays Transition Toward Heart Failure in Response to Pressure Overload by Preserving Calcium Cycling

    Cardiomyocyte Overexpression of Neuronal Nitric Oxide Synthase Delays Transition Toward Heart Failure in Response to Pressure Overload by Preserving Calcium Cycling av Xavier Loyer, Ana M. Gómez, Paul Milliez, María Fernández‐Velasco, Peter Vangheluwe, Laurent Vinet, Dominique Charue, Emilie Vaudin, Wei Zhang, Yannis Sainte–Marie, Estelle Robidel, Isabelle Marty, Bernd Mayer, Frédéric Jaisser, Jean-Jacques Mercadier, Sylvain Richard, Ajay M. Shah, Jean‐Pierre Bénitah, Jane‐Lise Samuel, Christophe Heymes

    Publicerad 2008
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  20. 20
    Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human

    Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human av Nathalie Roux-Buisson, Marine Cacheux, Anne Fourest‐Lieuvin, Jérémy Fauconnier, Julie Brocard, Isabelle Denjoy, Philippe Durand, Pascale Guicheney, Florence Kyndt, Antoine Leenhardt, Hervé Le Marec, V. Lucet, Philippe Mabo, Vincent Probst, Nicole Monnier, Pierre F. Ray, Elodie Santoni, Pauline Trémeaux, Alain Lacampagne, Julien Fauré, Joël Lunardi, Isabelle Marty

    Publicerad 2012
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