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1
Identification of wheelchair seating criteria in adults with neuromuscular diseases: A Delphi study. door Elise Dupitier, Manon Voisin, Caroline Stalens, Pascal Laforêt, Samuel Pouplin
Gepubliceerd in 2023-01-01
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2
Renal artery fibromuscular dysplasia in Pompe disease: A case report door Evangelia Pappa, Constantinos Papadopoulos, Philippe Grimbert, Pascal Laforêt, Guillaume Bassez
Gepubliceerd in 2018-09-01
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3
Camptocormia as a feature of Mc Ardle's disease: A case report door Mathilde Nicolas, Chloé Giret, Sybille Pellieux, Annick Toutain, Anne-Marie Bergemer-Fouquet, Pascal Laforêt, Loic Bouilleau, François Maillot
Gepubliceerd in 2025-03-01
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4
Urine glucose tetrasaccharide: A good biomarker for glycogenoses type II and III? A study of the French cohort door Monique Piraud, Magali Pettazzoni, Marie de Antonio, Christine Vianey-Saban, Roseline Froissart, Brigitte Chabrol, Sarah Young, Pascal Laforêt
Gepubliceerd in 2020-06-01
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5
Glycogenin-1 deficiency mimicking limb-girdle muscular dystrophy door Claire Lefeuvre, Stéphane Schaeffer, Robert-Yves Carlier, Maxime Fournier, Françoise Chapon, Valérie Biancalana, Guillaume Nicolas, Edoardo Malfatti, Pascal Laforêt
Gepubliceerd in 2020-09-01
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6
Skeletal muscle metabolism during prolonged exercise in Pompe disease door Nicolai Preisler, Pascal Laforêt, Karen Lindhardt Madsen, Edith Husu, Christoffer Rasmus Vissing, Gitte Hedermann, Henrik Galbo, Christopher Lindberg, John Vissing
Gepubliceerd in 2017-07-01
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7
French recommendations for the management of glycogen storage disease type III door Camille Wicker, Aline Cano, Valérie Decostre, Roseline Froissart, François Maillot, Ariane Perry, François Petit, Catherine Voillot, Karim Wahbi, Joëlle Wenz, Pascal Laforêt, Philippe Labrune
Gepubliceerd in 2023-07-01
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8
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... door 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
Gepubliceerd in 2025-02-01
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9
Cervical Spinal Cord Atrophy Profile in Adult SMN1-Linked SMA. door Mohamed-Mounir El Mendili, Timothée Lenglet, Tanya Stojkovic, Anthony Behin, Raquel Guimarães-Costa, François Salachas, Vincent Meininger, Gaelle Bruneteau, Nadine Le Forestier, Pascal Laforêt, Stéphane Lehéricy, Habib Benali, Pierre-François Pradat
Gepubliceerd in 2016-01-01
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10
Natural History of Cardiac and Respiratory Involvement, Prognosis and Predictive Factors for Long-Term Survival in Adult Patients with Limb Girdle Muscular Dystrophies Type 2C and... door Abdallah Fayssoil, Adam Ogna, Cendrine Chaffaut, Sylvie Chevret, Raquel Guimarães-Costa, France Leturcq, Karim Wahbi, Helene Prigent, Frederic Lofaso, Olivier Nardi, Bernard Clair, Anthony Behin, Tanya Stojkovic, Pascal Laforet, David Orlikowski, Djillali Annane
Gepubliceerd in 2016-01-01
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11
Diaphragm sniff ultrasound: Normal values, relationship with sniff nasal pressure and accuracy for predicting respiratory involvement in patients with neuromuscular disorders. door Abdallah Fayssoil, Lee S Nguyen, Adam Ogna, Tanya Stojkovic, Paris Meng, Dominique Mompoint, Robert Carlier, Helene Prigent, Bernard Clair, Anthony Behin, Pascal Laforet, Guillaume Bassez, Pascal Crenn, David Orlikowski, Djillali Annane, Bruno Eymard, Frederic Lofaso
Gepubliceerd in 2019-01-01
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12
A study on the safety and efficacy of reveglucosidase alfa in patients with late-onset Pompe disease door Barry J. Byrne, Tarekegn Geberhiwot, Bruce A. Barshop, Richard Barohn, Derralynn Hughes, Drago Bratkovic, Claude Desnuelle, Pascal Laforet, Eugen Mengel, Mark Roberts, Peter Haroldsen, Kristin Reilley, Kala Jayaram, Ke Yang, Liron Walsh, on behalf of the POM-001/002 Investigators
Gepubliceerd in 2017-08-01
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13
No effect of triheptanoin on exercise performance in McArdle disease door Karen L. Madsen, Pascal Laforêt, Astrid E. Buch, Mads G. Stemmerik, Chris Ottolenghi, Stéphane N. Hatem, Daniel T. Raaschou‐Pedersen, Nanna S. Poulsen, Maria Atencio, Marie‐Pierre Luton, Alexandre Ceccaldi, Ronald G. Haller, Ros Quinlivan, Fanny Mochel, John Vissing
Gepubliceerd in 2019-10-01
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14
Left bundle branch block in Duchenne muscular dystrophy: Prevalence, genetic relationship and prognosis. door Abdallah Fayssoil, Rabah Ben Yaou, Adam Ogna, Cendrine Chaffaut, France Leturcq, Olivier Nardi, Karim Wahbi, Denis Duboc, Frederic Lofaso, Helene Prigent, Bernard Clair, Pascal Crenn, Guillaume Nicolas, Pascal Laforet, Anthony Behin, Sylvie Chevret, David Orlikowski, Djillali Annane
Gepubliceerd in 2018-01-01
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15
Prognosis of Right Ventricular Systolic Dysfunction in Patients With Duchenne Muscular Dystrophy door 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
Gepubliceerd in 2023-08-01
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16
Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry) door Tomàs Pinós, Antoni L. Andreu, Claudio Bruno, Georgios M. Hadjigeorgiou, Ronald G. Haller, Pascal Laforêt, Alejandro Lucía, Miguel A. Martín, Andrea Martinuzzi, Carmen Navarro, Piraye Oflazer, Jean Pouget, Ros Quinlivan, Sabrina Sacconi, Renata S. Scalco, Antonio Toscano, John Vissing, Matthias Vorgerd, Andrew Wakelin, Ramon Martí, EUROMAC Consortium
Gepubliceerd in 2020-10-01
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17
The spinal and cerebral profile of adult spinal-muscular atrophy: A multimodal imaging study door Giorgia Querin, Mohamed-Mounir El Mendili, Timothée Lenglet, Anthony Behin, Tanya Stojkovic, François Salachas, David Devos, Nadine Le Forestier, Maria del Mar Amador, Rabab Debs, Lucette Lacomblez, Vincent Meninger, Gaëlle Bruneteau, Julien Cohen-Adad, Stéphane Lehéricy, Pascal Laforêt, Sophie Blancho, Habib Benali, Martin Catala, Menghan Li, Véronique Marchand-Pauvert, Jean-Yves Hogrel, Peter Bede, Pierre-François Pradat
Gepubliceerd in 2019-01-01
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18
Deep morphological analysis of muscle biopsies from type III glycogenesis (GSDIII), debranching enzyme deficiency, revealed stereotyped vacuolar myopathy and autophagy impairment door Pascal Laforêt, Michio Inoue, Evelyne Goillot, Claire Lefeuvre, Umut Cagin, Nathalie Streichenberger, Sarah Leonard-Louis, Guy Brochier, Angeline Madelaine, Clemence Labasse, Carola Hedberg-Oldfors, Thomas Krag, Louisa Jauze, Julien Fabregue, Philippe Labrune, Jose Milisenda, Aleksandra Nadaj-Pakleza, Sabrina Sacconi, Federico Mingozzi, Giuseppe Ronzitti, François Petit, Benedikt Schoser, Anders Oldfors, John Vissing, Norma B. Romero, Ichizo Nishino, Edoardo Malfatti
Gepubliceerd in 2019-10-01
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19
Spinal muscular atrophy is also a disorder of spermatogenesis door 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
Gepubliceerd in 2024-12-01
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20
Data from the European registry for patients with McArdle disease (EUROMAC): functional status and social participation door 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
Gepubliceerd in 2023-07-01
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