অনুসন্ধান ফলাফলগুলি - Isabelle Marty
- প্রদর্শন 1 - 20 ফলাফল এর 20
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A homozygous splicing mutation causing a depletion of skeletal muscle RYR1 is associated with multi-minicore disease congenital myopathy with ophthalmoplegia অনুযায়ী Nicole Monnier, Ana Ferreiro, Isabelle Marty, Annick Labarre‐Vila, Paulette Mezin, Joël Lunardi
প্রকাশিত 2003Artigo -
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Triadin Binding to the C-Terminal Luminal Loop of the Ryanodine Receptor is Important for Skeletal Muscle Excitation–Contraction Coupling অনুযায়ী Sanjeewa A. Goonasekera, Nicole A. Beard, Linda Groom, Takashi Kimura, Alla D. Lyfenko, Andrew Rosenfeld, Isabelle Marty, Angela F. Dulhunty, Robert T. Dirksen
প্রকাশিত 2007Artigo -
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Role of Myocardial Neuronal Nitric Oxide Synthase–Derived Nitric Oxide in β-Adrenergic Hyporesponsiveness After Myocardial Infarction–Induced Heart Failure in Rat অনুযায়ী Jennifer K. Bendall, Thibaud Damy, Philippe Ratajczak, Xavier Loyer, Virginie Monceau, Isabelle Marty, Paul Milliez, Estelle Robidel, Françoise Marotte, Jane‐Lise Samuel, Christophe Heymes
প্রকাশিত 2004Artigo -
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Triadin Deletion Induces Impaired Skeletal Muscle Function অনুযায়ী 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
প্রকাশিত 2009Artigo -
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DHPR α1S subunit controls skeletal muscle mass and morphogenesis অনুযায়ী 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
প্রকাশিত 2009Artigo -
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Oxidative stress and successful antioxidant treatment in models of RYR1-related myopathy অনুযায়ী 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
প্রকাশিত 2012Artigo -
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Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization অনুযায়ী 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
প্রকাশিত 2010Artigo -
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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... অনুযায়ী 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
প্রকাশিত 2014Artigo -
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Caveolae and Bin1 form ring-shaped platforms for T-tubule initiation অনুযায়ী 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
প্রকাশিত 2023Artigo -
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‘Dusty core disease’ (DuCD): expanding morphological spectrum of RYR1 recessive myopathies অনুযায়ী 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
প্রকাশিত 2019Artigo -
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An Integrated Diagnosis Strategy for Congenital Myopathies অনুযায়ী 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
প্রকাশিত 2013Artigo -
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217th ENMC International Workshop: RYR1-related myopathies, Naarden, The Netherlands, 29–31 January 2016 অনুযায়ী 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
প্রকাশিত 2016Artigo -
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Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion অনুযায়ী 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
প্রকাশিত 2010Artigo -
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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... অনুযায়ী 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
প্রকাশিত 2014Artigo -
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The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis অনুযায়ী 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
প্রকাশিত 2012Artigo -
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Cardiomyocyte Overexpression of Neuronal Nitric Oxide Synthase Delays Transition Toward Heart Failure in Response to Pressure Overload by Preserving Calcium Cycling অনুযায়ী 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
প্রকাশিত 2008Artigo -
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Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human অনুযায়ী 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
প্রকাশিত 2012Artigo
অনুসন্ধান সাধনীগুলি:
সম্পর্কিত বিষয়
Biology
Ryanodine receptor
Medicine
Endocrinology
Gene
Genetics
Internal medicine
Cell biology
RYR1
Biochemistry
Calcium
Endoplasmic reticulum
Receptor
Skeletal muscle
Biopsy
Chemistry
Muscle biopsy
Myocyte
Myopathy
Pathology
Central core disease
Congenital myopathy
Mutation
Calsequestrin
Intracellular
Missense mutation
Biophysics
Cardiology
Catecholaminergic polymorphic ventricular tachycardia
Congenital muscular dystrophy