検索結果 - Pascal Laforet

Camptocormia as a feature of Mc Ardle's disease: A case report 著者: Mathilde Nicolas, Chloé Giret, Sybille Pellieux, Annick Toutain, Anne-Marie Bergemer-Fouquet, Pascal Laforêt, Loic Bouilleau, François Maillot

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Medical expenses and care pathways of patients with Pompe receiving myozyme: an observational study based on the French national healthcare database 著者: Alicia Le Bras, Pascale De Lonlay, Shahram Attarian, Anaïs Brassier, Isabelle Durand-Zaleski, Pascal Laforêt, Pompe Study Group

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Galectin-3: a novel biomarker of glycogen storage disease type III 著者: Lucille Rossiaud, Quentin Miagoux, Manon Benabides, Océane Reiss, Louisa Jauze, Margot Jarrige, Hélène Polvèche, Edoardo Malfatti, Pascal Laforêt, Giuseppe Ronzitti, Xavier Nissan, Lucile Hoch

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Real-world evidence for Pompe disease remains fragmented. Comment on “A rare partnership: patient community and industry collaboration to shape the impact of real-world evidence on... 著者: Michelle E. Kruijshaar, Tiffany House, Benedikt Schoser, Pascal Laforêt, Maudy T. M. Theunissen, Stephan Wenninger, Thomas Hundsberger, Jordi Diaz-Manera, Ans T. van der Ploeg, Nadine A. M. E. van der Beek

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Prognostic value of right ventricular–pulmonary artery coupling in patients with muscular dystrophies 著者: Abdallah Fayssoil, Nicolas Mansencal, Cendrine Chaffaut, Karim Wahbi, Frederic Lofaso, Helene Prigent, David Orlikowski, Bernard Clair, Pascal Laforet, Guillaume Bassez, Anthony Behin, Bertrand Fontaine, Henri -Marc Becane, Denis Duboc, Olivier Dubourg, Sylvie Chevret, Djillali Annane, Tanya Stojkovic

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Identification of alterations of immunometabolism associated with Pompe disease 著者: Helena Costa-Verdera, Marco Gargaro, Umut Cagin, Giorgia Manni, Giulia Scalisi, Philippe Veron, Estevão Carlos Silva Barcelos, Benedetta Pieroni, Giulia Mencarelli, Doriana Ricciuti, Ivan Nemazanyy, Peggy Sanatine, Laetitia van Wittenberghe, Pascal Laforêt, David-Alexandre Gross, Giuseppe Ronzitti, Francesca Fallarino, Federico Mingozzi

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Prognosis of Right Ventricular Systolic Dysfunction in Patients With Duchenne Muscular Dystrophy 著者: Abdallah Fayssoil, Nicolas Mansencal, Lee S. Nguyen, Olivier Nardi, Rabah Ben Yaou, France Leturcq, Helge Amthor, Karim Wahbi, Henri Marc Becane, Frederic Lofaso, Helene Prigent, Guillaume Bassez, Anthony Behin, Tanya Stojkovic, Bertrand Fontaine, Denis Duboc, Olivier Dubourg, Bernard Clair, Pascal Laforet, Djillali Annane, David Orlikowski

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Spinal muscular atrophy is also a disorder of spermatogenesis 著者: Armelle Magot, Arnaud Reignier, Olivier Binois, Anne Laure Bedat-Millet, Jean-Baptiste Davion, Louise Debergé, Karima Ghorab, Lucie Guyant, Émilie Laheranne, Pascal Laforet, Claire Lefeuvre, Martial Mallaret, Maud Michaud, Chahla Omar, Aleksandra Nadaj-Pakleza, Guillaume Nicolas, Jean Baptiste Noury, Antoine Pegat, Morgane Péré, Emmanuelle Salort-Campana, Guilhem Sole, Marco Spinazzi, Céline Tard, Carole Vuillerot, Yann Péréon

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Data from the European registry for patients with McArdle disease (EUROMAC): functional status and social participation 著者: Walaa Karazi, Renata S. Scalco, Mads G. Stemmerik, Nicoline Løkken, Alejandro Lucia, Alfredo Santalla, Andrea Martinuzzi, Marinela Vavla, Gianluigi Reni, Antonio Toscano, Olimpia Musumeci, Carlyn V. Kouwenberg, Pascal Laforêt, Beatriz San Millán, Irene Vieitez, Gabriele Siciliano, Enrico Kühnle, Rebecca Trost, Sabrina Sacconi, Hacer Durmus, Biruta Kierdaszuk, Andrew Wakelin, Antoni L. Andreu, Tomàs Pinós, Ramon Marti, Ros Quinlivan, John Vissing, Nicol C. Voermans, EUROMAC Consortium

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Multidisciplinary team meetings in treatment of spinal muscular atrophy adult patients: a real-life observatory for innovative treatments 著者: Emmanuelle Salort-Campana, Guilhem Solé, Armelle Magot, Céline Tard, Jean-Baptiste Noury, Anthony Behin, Elisa De La Cruz, François Boyer, Claire Lefeuvre, Marion Masingue, Louise Debergé, Armelle Finet, Mélanie Brison, Marco Spinazzi, Antoine Pegat, Sabrina Sacconi, Edoardo Malfatti, Ariane Choumert, Rémi Bellance, Anne-Laure Bedat-Millet, Léonard Feasson, Carole Vuillerot, Agnès Jacquin-Piques, Maud Michaud, Yann Pereon, Tanya Stojkovic, Pascal Laforêt, Shahram Attarian, Pascal Cintas

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Prevalence and predictors of uncommon features in FSHD1 patients: insights from the French FSHD registry 著者: Benoît Sanson, Abderhmane Slioui, Jérémy Garcia, Lori Klouvi, Julie Lejeune, Caroline Stalens, Céline Guien, Sitraka Rabarimeriarijaona, Rafaëlle Bernard, Juliette Nectoux, Sharham Attarian, Anne-Laure Bédat-Millet, Françoise Bouhour, François Constant Boyer, Jean-Baptiste Chanson, Ariane Choumert, Pascal Cintas, Elisa De La Cruz, Léonard Féasson, Maxime Fournier, Karima Ghorab, Agnès Jacquin-Piques, Pascal Laforêt, Armelle Magot, Maud Michaud, Jean-Baptiste Noury, Guilhem Solé, Marco Spinazzi, Tanya Stojkovic, Céline Tard, Luisa Villa, Christophe Béroud, Sabrina Sacconi, the French FSHD registry collaboration group

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Muscle cells of sporadic amyotrophic lateral sclerosis patients secrete neurotoxic vesicles 著者: Laura Le Gall, William J. Duddy, Cecile Martinat, Virginie Mariot, Owen Connolly, Vanessa Milla, Ekene Anakor, Zamalou G. Ouandaogo, Stephanie Millecamps, Jeanne Lainé, Udaya Geetha Vijayakumar, Susan Knoblach, Cedric Raoul, Olivier Lucas, Jean Philippe Loeffler, Peter Bede, Anthony Behin, Helene Blasco, Gaelle Bruneteau, Maria Del Mar Amador, David Devos, Alexandre Henriques, Adele Hesters, Lucette Lacomblez, Pascal Laforet, Timothee Langlet, Pascal Leblanc, Nadine Le Forestier, Thierry Maisonobe, Vincent Meininger, Laura Robelin, Francois Salachas, Tanya Stojkovic, Giorgia Querin, Julie Dumonceaux, Gillian Butler Browne, Jose‐Luis González De Aguilar, Stephanie Duguez, Pierre Francois Pradat

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