Search Results - Pascal Laforet

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  1. 1

    Identification of wheelchair seating criteria in adults with neuromuscular diseases: A Delphi study. by Elise Dupitier, Manon Voisin, Caroline Stalens, Pascal Laforêt, Samuel Pouplin

    Published in PLoS ONE (2023-01-01)
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  2. 2

    Renal artery fibromuscular dysplasia in Pompe disease: A case report by Evangelia Pappa, Constantinos Papadopoulos, Philippe Grimbert, Pascal Laforêt, Guillaume Bassez

    Published in Molecular Genetics and Metabolism Reports (2018-09-01)
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  3. 3

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

    Published in Molecular Genetics and Metabolism Reports (2025-03-01)
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  4. 4

    Urine glucose tetrasaccharide: A good biomarker for glycogenoses type II and III? A study of the French cohort by Monique Piraud, Magali Pettazzoni, Marie de Antonio, Christine Vianey-Saban, Roseline Froissart, Brigitte Chabrol, Sarah Young, Pascal Laforêt

    Published in Molecular Genetics and Metabolism Reports (2020-06-01)
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  5. 5

    Glycogenin-1 deficiency mimicking limb-girdle muscular dystrophy by Claire Lefeuvre, Stéphane Schaeffer, Robert-Yves Carlier, Maxime Fournier, Françoise Chapon, Valérie Biancalana, Guillaume Nicolas, Edoardo Malfatti, Pascal Laforêt

    Published in Molecular Genetics and Metabolism Reports (2020-09-01)
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  6. 6

    French recommendations for the management of glycogen storage disease type III by Camille Wicker, Aline Cano, Valérie Decostre, Roseline Froissart, François Maillot, Ariane Perry, François Petit, Catherine Voillot, Karim Wahbi, Joëlle Wenz, Pascal Laforêt, Philippe Labrune

    Published in European Journal of Medical Research (2023-07-01)
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  7. 7

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

    Published in Cell Death Discovery (2025-04-01)
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  8. 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... by 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

    Published in Orphanet Journal of Rare Diseases (2025-02-01)
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  9. 9

    A study on the safety and efficacy of reveglucosidase alfa in patients with late-onset Pompe disease by 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

    Published in Orphanet Journal of Rare Diseases (2017-08-01)
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  10. 10

    Left bundle branch block in Duchenne muscular dystrophy: Prevalence, genetic relationship and prognosis. by 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

    Published in PLoS ONE (2018-01-01)
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  11. 11

    Prognosis of Right Ventricular Systolic Dysfunction in Patients With Duchenne Muscular Dystrophy by 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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  12. 12

    Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry) by 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

    Published in Orphanet Journal of Rare Diseases (2020-10-01)
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  13. 13

    The spinal and cerebral profile of adult spinal-muscular atrophy: A multimodal imaging study by 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

    Published in NeuroImage: Clinical (2019-01-01)
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  14. 14

    Deep morphological analysis of muscle biopsies from type III glycogenesis (GSDIII), debranching enzyme deficiency, revealed stereotyped vacuolar myopathy and autophagy impairment by 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

    Published in Acta Neuropathologica Communications (2019-10-01)
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  15. 15

    Spinal muscular atrophy is also a disorder of spermatogenesis by 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

    Published in Orphanet Journal of Rare Diseases (2024-12-01)
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  16. 16

    Data from the European registry for patients with McArdle disease (EUROMAC): functional status and social participation by 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

    Published in Orphanet Journal of Rare Diseases (2023-07-01)
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  17. 17

    Multidisciplinary team meetings in treatment of spinal muscular atrophy adult patients: a real-life observatory for innovative treatments by 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

    Published in Orphanet Journal of Rare Diseases (2024-01-01)
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  18. 18

    Prevalence and predictors of uncommon features in FSHD1 patients: insights from the French FSHD registry by 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

    Published in Orphanet Journal of Rare Diseases (2025-09-01)
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  19. 19

    Muscle cells of sporadic amyotrophic lateral sclerosis patients secrete neurotoxic vesicles by 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

    Published in Journal of Cachexia, Sarcopenia and Muscle (2022-04-01)
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