Search Results - Pascal Laforet

Diagnostic workup of rhabdomyolysis: Genetic testing should precede neurophysiological testing by Nicol C. Voermans, Salman Bhai, Pascal Laforet, John Vissing

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Disease Trajectories of a Large French Cohort of 142 Congenital Myopathy Patients in Adult Age by Michela Bisciglia, Gianmarco Severa, Norma Beatriz Romero, Michel Fardeau, John Rendu, Tanya Stojkovic, Pascal Laforêt, Bruno Eymard, Ana Ferreiro, Edoardo Malfatti, Anthony Béhin

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Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies by Leonela Luce, Goknur Selen Kocak, José Verdú‐Díaz, Jorge Alonso‐Pérez, Kristl G. Claeys, Tanya Stojkovic, Gorka Fernández‐Eulate, Pascal Laforêt, Najoua Miladi, Filipe Di Pace, Cristiane Araujo Martins Moreno, Edmar Zanoteli, Conrad C. Weihl, Volker Straub, Ana Töpf, Jordi Díaz‐Manera

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Circulatory response to exercise relative to oxygen uptake assessed in the follow‐up of patients with fatty acid beta‐oxidation disorders by Apolline Imbard, Hortense de Calbiac, Edouard Le Guillou, Pascal Laforêt, Manuel Schiff, Anaïs Brassier, Elise Thevenet, Clément Pontoizeau, Bertrand Lefrère, Chris Ottolenghi, Elise Lebigot, Pauline Gaignard, Stéphanie Gobin, Cécile Acquaviva‐Bourdain, Jean‐François Benoist, Caroline Tuchmann‐Durand, Antoine Legendre, Pascale de Lonlay

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Improving outcome measures in late onset Pompe disease: Modified Rasch‐Built Pompe‐Specific Activity scale by Harmke A. van Kooten, Mike C. Horton, Stephan Wenninger, Haris Babačić, Benedikt Schoser, Claire Lefeuvre, Najib Taouagh, Pascal Laforêt, Sonia Segovia, Jordi Díaz‐Manera, Kristl G. Claeys, Tiziana Mongini, Olimpia Musumeci, Antonio Toscano, Thomas Hundsberger, Esther Brusse, Pieter A. van Doorn, Ans T. van der Ploeg, Nadine A. M. E. van der Beek

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Bulbar muscle impairment in patients with late onset Pompe disease: Insight from the French Pompe registry by Emilie Retailleau, Claire Lefeuvre, Marie De Antonio, Françoise Bouhour, Celine Tard, Emmanuelle Salort‐Campana, Emmeline Lagrange, Anthony Béhin, Guilhem Solé, Jean‐Baptiste Noury, Sabrina Sacconi, Armelle Magot, Aleksandra Nadaj Pakleza, David Orlikowski, Stéphane Beltran, Marco Spinazzi, Pascal Cintas, Maxime Fournier, Fatma Bouibede, Hélène Prigent, Guillaume Nicolas, Nadjib Taouagh, Taissir El Guizani, Shahram Attarian, Azzeddine Arrassi, Dalil Hamroun, Pascal Laforêt

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Diagnostic Impasse and Wandering in Patients With Rare Neuromuscular Diseases: Insights Into Patient Characteristics From the French National Network for Rare Neuromuscular Disease... by Rémy Dumas, Anne‐Sophie Jannot, Nabila Elarouci, Emmanuelle Salort‐Campana, Lucie Pisella, Céline Tard, Sabrina Sacconi, Françoise Bouhour, Elisabeth Sarrazin, Marco Spinazzi, Pascal Laforet, Yann Pereon, Aleksandra Nadaj‐Pakleza, Andoni Echaniz‐Laguna, Ariane Choumert, Laurent Magy, Léonard Feasson, Florence Esselin, Claude Cances, Caroline Espile, Isabelle Desguerre, Cécile Rouzier, Pascal Cintas, Tanya Stojkovic, Guilhem Solé, Shahram Attarian

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Causes of Death and Comorbidities in Adult Patients With Late‐Onset Pompe Disease: A French Pompe Registry Retrospective Study by Diana Maria Chitimus, Céline Tard, Maxime Fournier, Françoise Bouhour, Anthony Béhin, Emmanuelle Salort‐Campana, Emmeline Lagrange, Anne‐Laure Kaminsky, Armelle Magot, Stéphane Beltran, Jean‐Baptiste Noury, Laurent Magy, Guilhem Solé, Dimitri Renard, Marco Spinazzi, Florence Demurger, Pascal Cintas, Aleksandra Nadaj‐Pakleza, Joelle Deibener‐Kaminsky, Guillaume Bassez, Nadjib Taouagh, Azzedine Arrassi, Claire Lefeuvre, Sharam Attarian, Dalil Hamroun, Pascal Laforêt

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Start, switch and stop (triple‐S) criteria for enzyme replacement therapy of late‐onset Pompe disease: European Pompe Consortium recommendation update 2024 by Benedikt Schoser, Nadine A. M. E. van der Beek, Alexander Broomfield, Esther Brusse, Jordi Diaz‐Manera, Andreas Hahn, Thomas Hundsberger, Cornelia Kornblum, Michelle Kruijshaar, Pascal Laforet, Eugen Mengel, Tiziana Mongini, David Orlikowski, Giancarlo Parenti, W. W. M. Pim Pijnappel, Mark Roberts, Thomas Scherer, Antonio Toscano, John Vissing, Johanna M. P. van den Hout, Pieter A. van Doorn, Stephan Wenninger, Ans T. van der Ploeg

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