Resultados de búsqueda - Emmanuelle Salort‐Campana
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Muscle Quantitative MR Imaging and Clustering Analysis in Patients with Facioscapulohumeral Muscular Dystrophy Type 1 por Émilie Lareau-Trudel, Arnaud Le Troter, Badih Ghattas, Jean Pouget, Shahram Attarian, David Bendahan, Emmanuelle Salort‐Campana
Publicado 2015Artigo -
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Long-term follow-up of MRI changes in thigh muscles of patients with Facioscapulohumeral dystrophy: A quantitative study por Farzad Fatehi, Emmanuelle Salort‐Campana, Arnaud Le Troter, Émilie Lareau-Trudel, Mark Bydder, Alexandre Fouré, Maxime Guye, David Bendahan, Shahram Attarian
Publicado 2017Artigo -
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Guidance for the care of neuromuscular patients during the COVID-19 pandemic outbreak from the French Rare Health Care for Neuromuscular Diseases Network por Guilhem Solé, Emmanuelle Salort‐Campana, Yann Péréon, Tanya Stojkovic, Karim Wahbi, Pascal Cintas, David H. Adams, Pascal Laforêt, V. Tiffreau, Isabelle Desguerre, Lucie I. Pisella, Annamaria Molon, Shahram Attarian
Publicado 2020Artigo -
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Molecular combing reveals complex 4q35 rearrangements in Facioscapulohumeral dystrophy por Karine Nguyen, Francesca Puppo, Stéphane Roche, Marie-Cécile Gaillard, Charlène Chaix, Arnaud Lagarde, Marjorie Pierret, Catherine Vovan, Sylviane Olschwang, Emmanuelle Salort-Campana, Shahram Attarian, Marc Bartoli, Rafaëlle Bernard, Frédérique Magdinier, Nicolas Lévy
Publicado 2017Artigo -
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Molecular diagnosis of inherited peripheral neuropathies by targeted next-generation sequencing: molecular spectrum delineation por Juliette Bacquet, Tanya Stojkovic, Amandine Boyer, Nathalie Martini, Frédérique Audic, B. Chabrol, Emmanuelle Salort‐Campana, Émilien Delmont, Jean-Pierre Desvignes, Annie Verschueren, Shahram Attarian, Annabelle Chaussenot, Valérie Delague, Nicolas Lévy, Nathalie Bonello‐Palot
Publicado 2018Artigo -
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Exploring necrotizing autoimmune myopathies with a novel immunoassay for anti-3-hydroxy-3-methyl-glutaryl-CoA reductase autoantibodies por Laurent Drouot, Yves Allenbach, F. Jouen, Jean‐Luc Charuel, J. Martinet, Alain Meyer, O. Hinschberger, Brigitte Bader‐Meunier, Isabelle Koné‐Paut, Emmanuelle Salort‐Campana, B. Eymard, Anne Tournadre, Lucile Musset, Jean Sibilia, I. Marie, Olivier Benvéniste, Olivier Boyer
Publicado 2014Artigo -
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Dysregulation of 4q35- and muscle-specific genes in fetuses with a short D4Z4 array linked to facio-scapulo-humeral dystrophy por Natacha Broucqsault, Julia Morere, Marie-Cécile Gaillard, Julie Dumonceaux, Julia Torrents, Emmanuelle Salort-Campana, A. Maues de Paula, Marc Bartoli, Carla Fernandez, Anne Laure Chesnais, Maxime Ferreboeuf, Laure Sarda‐Mantel, Henry Dufour, Claude Desnuelle, Shahram Attarian, Nicolas Lévy, Karine Nguyen, Frédérique Magdinier, Stéphane Roche
Publicado 2013Artigo -
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High risk of cancer in autoimmune necrotizing myopathies: usefulness of myositis specific antibody por Yves Allenbach, Jérémy Keraen, Anne‐Marie Bouvier, Valérie Jooste, Nicolas Champtiaux, B. Hervier, Y. Schoindre, A. Rigolet, Laurent Gilardin, Lucile Musset, Jean‐Luc Charuel, Olivier Boyer, F. Jouen, Laurent Drouot, J. Martinet, Tanya Stojkovic, B. Eymard, Pascal Laforêt, Anthony Béhin, Emmanuelle Salort‐Campana, O. Fain, Alain Meyer, N. Schleinitz, K. Mariampillai, A. Grados, Olivier Benvéniste
Publicado 2016Artigo -
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Impact of Coronavirus Disease 2019 in a French Cohort of Myasthenia Gravis por Guilhem Solé, Stéphane Mathis, Diane Friedman, Emmanuelle Salort‐Campana, Céline Tard, Françoise Bouhour, Armelle Magot, Djillali Annane, Bernard Clair, Gwendal Le Masson, Antoine Soulages, Fanny Duval, Louis Carla, Marie‐Hélène Violleau, Tiphaine Saulnier, Sandrine Ségovia-Kueny, Léa Kern, Jean‐Christophe Antoine, Guillemette Beaudonnet, Frédérique Audic, Laurent Kremer, Jean‐Baptiste Chanson, Aleksandra Nadaj‐Pakleza, Tanya Stojkovic, Pascal Cintas, Marco Spinazzi, Alexandra Foubert‐Samier, Shahram Attarian
Publicado 2021Artigo -
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Mutations in FAM111B Cause Hereditary Fibrosing Poikiloderma with Tendon Contracture, Myopathy, and Pulmonary Fibrosis por Sandra Mercier, Sébastien Küry, Gasnat Shaboodien, Darren T. Houniet, Nonhlanhla P. Khumalo, Chantal Bou‐Hanna, Nathalie Bodak, Valérie Cormier‐Daire, Albert David, Laurence Faivre, Dominique Figarella‐Branger, Romain K. Gherardi, Elise Glen, Antoine Hamel, Christian Laboisse, Cédric Le Caignec, Pierre Lindenbaum, Armelle Magot, Arnold Münnich, Jean‐Marie Mussini, Komala Pillay, Thahira Rahman, Richard Redon, Emmanuelle Salort‐Campana, Mauro Santibanez‐Koref, Christel Thauvin, S. Barbarot, Bernard Keavney, Stéphane Bézieau, Bongani M. Mayosi
Publicado 2013Artigo -
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SMCHD1 is involved in<i>de novo</i>methylation of the<i>DUX4</i>-encoding D4Z4 macrosatellite por Camille Dion, Stéphane Roche, Camille Laberthonnìère, Natacha Broucqsault, Virginie Mariot, Shifeng Xue, Alexandra D. Gurzau, Agnieszka Nowak, Christopher T. Gordon, Marie-Cécile Gaillard, Claire El-Yazidi, Morgane Thomas, Andrée Schlupp-Robaglia, Chantal Missirian, Valérie Malan, Liham Ratbi, Abdelaziz Sefiani, Bernd Wollnik, Bernard Binétruy, Emmanuelle Salort Campana, Shahram Attarian, Rafaëlle Bernard, Karine Nguyen, Jeanne Amiel, Julie Dumonceaux, James M. Murphy, Jérôme Déjardin, Marnie E. Blewitt, Bruno Reversade, Jérôme D. Robin, Frédérique Magdinier
Publicado 2019Artigo -
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Antibodies against the node of Ranvier: a real-life evaluation of incidence, clinical features and response to treatment based on a prospective analysis of 1500 sera por Émilien Delmont, Alexandre Brodovitch, Ludivine Kouton, Thibaut Allou, S. Beltran, Marion Brisset, Jean‐Philippe Camdessanché, Cécile Cauquil, Jonathan Cirion, Thierry Dubard, Andoni Echaniz‐Laguna, Aude‐Marie Grapperon, Joëlle Jauffret, Raúl Juntas‐Morales, Laurent Kremer, Thierry Küntzer, Céline Labeyrie, Lucas Lanfranco, Thierry Maisonobe, Nicolas Mavroudakis, Sylvie Mecharles-Darrigol, Guillaume Nicolas, Jean‐Baptiste Noury, Maud Perié, Yusuf A. Rajabally, Gauthier Remiche, Violaine Rouaud, Céline Tard, Emmanuelle Salort‐Campana, Annie Verschueren, Karine Viala, Adrien Wang, Shahram Attarian, José Boucraut
Publicado 2020Artigo -
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Anti-HMGCR Autoantibodies in European Patients With Autoimmune Necrotizing Myopathies por Yves Allenbach, Laurent Drouot, A. Rigolet, Jean Luc Charuel, F. Jouen, Norma B. Romero, Thierry Maisonobe, O. Dubourg, Anthony Béhin, Pascal Laforêt, T. Stojkovic, B. Eymard, N. Costedoat‐Chalumeau, Emmanuelle Salort‐Campana, Anne Tournadre, Lucile Musset, Brigitte Bader‐Meunier, Isabelle Koné‐Paut, Jean Sibilia, Laurent Servais, Olivier Fain, C. Larroche, Élisabeth Diot, Benjamin Terrier, Raphaël De Paz, Antoine Dossier, Dominique Ménard, Chafika Morati, M Roux, Xavier Ferrer, J. Martinet, Sophie Besnard, Rémi Bellance, P. Cacoub, Laurent Arnaud, B. Grosbois, S. Herson, Olivier Boyer, Olivier Benvéniste
Publicado 2014Artigo -
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The Clinical Outcome Study for dysferlinopathy por Elizabeth Harris, Catherine L. Bladen, Anna Mayhew, M. James, K. Bettinson, U. Moore, Fiona E. Smith, Laura Rufibach, Avital Cnaan, Diana Bharucha‐Goebel, Andrew M. Blamire, Elena Bravver, Pierre G. Carlier, John Day, Jordi Díaz‐Manera, Michelle Eagle, Ulrike Grieben, Matthew Harms, Kristi Jones, Hanns Lochmüller, Jerry R. Mendell, Madoka Mori‐Yoshimura, Carmen Paradas, Elena Pegoraro, Alan Pestronk, Emmanuelle Salort-Campana, Olivia Schreiber‐Katz, Claudio Semplicini, Simone Spuler, Tanya Stojkovic, Volker Straub, Shin'ich Takeda, Carolina Tesi Rocha, Maggie C. Walter, Kate Bushby
Publicado 2016Artigo -
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Association between prophylactic angiotensin-converting enzyme inhibitors and overall survival in Duchenne muscular dystrophy—analysis of registry data por Raphaël Porcher, Isabelle Desguerre, Helge Amthor, B. Chabrol, Frédérique Audic, François Rivier, Arnaud Isapof, V. Tiffreau, Emmanuelle Salort‐Campana, France Leturcq, Sylvie Tuffery‐Giraud, Rabah Ben Yaou, Djillali Annane, Pascal Amédro, Christine Barnérias, Henri Marc Bécane, Anthony Béhin, Damien Bonnet, Guillaume Bassez, Mireille Cossée, Grégoire De La Villeon, Claire Delcourte, Abdallah Fayssoil, Bertand Fontaine, François Godart, Sophie Guillaumont, Emmanuelle Jaillette, Pascal Laforêt, Sarah Léonard-Louis, Frédéric Lofaso, M. Mayer, Raúl Juntas Morales, Christophe Meune, David Orlikowski, Caroline Ovaert, Hélène Prigent, Malika Saadi, Maximilien Sochala, Céline Tard, Guy Vaksmann, Ulrike Walther‐Louvier, B. Eymard, Tanya Stojkovic, Philippe Ravaud, Denis Duboc, Karim Wahbi
Publicado 2021Artigo -
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Gender as a Modifying Factor Influencing Myotonic Dystrophy Type 1 Phenotype Severity and Mortality: A Nationwide Multiple Databases Cross-Sectional Observational Study por Céline Dogan, Marie De Antonio, Dalil Hamroun, Hugo Varet, Marianne Fabbro, Felix Rougier, Khadija Amarof, Marie-Christine Arne Bes, Anne‐Laure Bédat‐Millet, Anthony Béhin, Rémi Bellance, Françoise Bouhour, Célia Boutte, F. Boyer, Emmanuelle Salort‐Campana, Françoise Chapon, Pascal Cintas, Claude Desnuelle, Romain Deschamps, Valérie Drouin‐Garraud, Xavier Ferrer, H. Gervais-Bernard, Karima Ghorab, Pascal Laforêt, Armelle Magot, Laurent Magy, Dominique Ménard, Marie-Christine Minot, Aleksandra Nadaj‐Pakleza, Sybille Pellieux, Yann Péréon, Marguerite Preudhomme, Jean Pouget, Sabrina Sacconi, Guilhem Solé, Tanya Stojkovich, V. Tiffreau, Andoni Urtizberea, Christophe Vial, Fabien Zagnoli, Gilbert Caranhac, Claude Bourlier, Gerard Riviere, Alain Geille, Romain K. Gherardi, B. Eymard, Jack Puymirat, Sandrine Katsahian, Guillaume Bassez
Publicado 2016Artigo -
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Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations por Sandra Mercier, Sébastien Küry, Emmanuelle Salort‐Campana, Armelle Magot, Uchenna Agbim, Thomas Besnard, Nathalie Bodak, Chantal Bou‐Hanna, Flora Bréhéret, Perrine Brunelle, Florence Caillon, B. Chabrol, Valérie Cormier‐Daire, Albert David, B. Eymard, Laurence Faivre, Dominique Figarella‐Branger, Emmanuelle Fleurence, Mythily Ganapathi, Romain K. Gherardi, Alice Goldenberg, Antoine Hamel, Jeanine Igual, Alan D. Irvine, Dominique Israëł-Biet, Caroline Kannengiesser, Christian Laboisse, Cédric Le Caignec, Jean-Yves Mahé, S. Mallet, Stuart A. MacGowan, Maeve A. McAleer, W.H. Irwin McLean, C. Méni, Arnold Münnich, Jean-Marie Mussini, Péter L. Nagy, Jeffrey G. Odel, Gráinne M. O’Regan, Yann Péréon, Julie Perrier, Juliette Piard, E. Puzenat, Jacinda B. Sampson, Frances J.D. Smith, Nadem Soufir, Kurenai Tanji, Christel Thauvin, Christina Ulane, Rosemarie M. Watson, Nonhlanhla P. Khumalo, Bongani M. Mayosi, S. Barbarot, Stéphane Bézieau
Publicado 2015Artigo -
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Muscle MRI in patients with dysferlinopathy: pattern recognition and implications for clinical trials por Jordi Díaz‐Manera, Roberto Fernández‐Torrón, Jaume Llauger, M. James, Anna Mayhew, Fiona E. Smith, U. Moore, Andrew M. Blamire, Pierre G. Carlier, Laura Rufibach, Plavi Mittal, Michelle Eagle, Marni Jacobs, Tim Hodgson, Dorothy Wallace, Louise Ward, Mark D. Smith, Roberto Stramare, Alessandro Rampado, Noriko Sato, Takeshi Tamaru, Bruce Harwick, Susana Rico Gala, Suna Turk, Eva Coppenrath, Glenn Foster, David Bendahan, Yann Le Fur, Stanley T. Fricke, Hansel J. Otero, Sheryl Foster, Anthony Peduto, A. Sawyer, H. Hilsden, Hanns Lochmüller, Ulrike Grieben, Simone Spuler, Carolina Tesi Rocha, John Day, Kristi Jones, Diana Bharucha‐Goebel, Emmanuelle Salort‐Campana, Matthew Harms, Alan Pestronk, Sabine Krause, Olivia Schreiber‐Katz, Maggie C. Walter, Carmen Paradas, Jean‐Yves Hogrel, Tanya Stojkovic, Shin’ichi Takeda, Madoka Mori‐Yoshimura, Elena Bravver, Susan Sparks, Luca Bello, Claudio Semplicini, Elena Pegoraro, Jerry R. Mendell, Kate Bushby, Volker Straub
Publicado 2018Artigo -
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104-week efficacy and safety of cipaglucosidase alfa plus miglustat in adults with late-onset Pompe disease: a phase III open-label extension study (ATB200-07) por Benedikt Schoser, Priya S. Kishnani, Drago Bratkovic, Barry J. Byrne, Kristl G. Claeys, Jordi Díaz‐Manera, Pascal Laforêt, Mark Roberts, António Toscano, Ans T. van der Ploeg, Jeff Castelli, Mitchell Goldman, Fred Holdbrook, Sheela Sitaraman Das, Y. Wasfi, Tahseen Mozaffar, Ágnes Sebök, Alan Pestronk, Aleksandra Dominović-Kovačević, Anzalee Khan, Blaž Koritnik, Céline Tard, Christopher Lindberg, Colin Quinn, Crystal Eldridge, Cynthia Bodkin, David Reyes‐Leiva, Derralynn Hughes, Ela Stefanescu, Emmanuelle Salort‐Campana, Ernest Butler, Françoise Bouhour, Gee Kim, George K. Papadimas, Giancarlo Parenti, Halina Bartosik-Psujek, Hani Kushlaf, Akihiro Hashiguchi, Heather Lau, Hélio Pedro, Henning Andersen, Hernán Amartino, Hideaki Shiraishi, Hiroshi Kobayashi, Ivaylo Tarnev, Jaime Vengoechea, Jennifer Avelar, Jin‐Hong Shin, John Nevin, Jonathan Cauci, Jorge Alonso‐Pérez, József Janszky, Julie Berthy, Cornelia Kornblum, Kristina Gutschmidt, Mária Judit Molnár, Marie Wencel, Mark A. Tarnopolsky, Matthias Boentert, Michel Tchan, Miriam Freimer, Nicola Longo, Nicolas J. Abreu, Nuria Vidal-Fernandez, Olimpia Musumeci, Özlem Göker-Alpan, Patrick Deegan, Paula R. Clemens, Richard Roxburgh, Robert Henderson, Robert J. Hopkin, Sabrina Sacconi, Simona Fecarotta, Shahram Attarian, Stephan Wenninger, Stephanie DeArmey, Tarekegn Hiwot, Thomas Andrew Burrow, Tobias Ruck, Tomo Sawada, Vescei Laszlo, Wolfgang N. Löscher, Yin‐Hsiu Chien
Publicado 2024Artigo
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