Identification of wheelchair seating criteria in adults with neuromuscular diseases: A Delphi study

por Dupitier, Elise, Voisin, Manon, Stalens, Caroline, Laforêt, Pascal, Pouplin, Samuel
Publicado 2023

Renal artery fibromuscular dysplasia in Pompe disease: A case report

por Pappa, Evangelia, Papadopoulos, Constantinos, Grimbert, Philippe, Laforêt, Pascal, Bassez, Guillaume
Publicado 2018

Determinants and Characterization of Locomotion in Adults with Late-Onset Pompe Disease: New Clinical Biomarkers

por Maulet, Théo, Cattagni, Thomas, Dubois, Fabien, Roche, Nicolas, Laforet, Pascal, Bonnyaud, Céline
Publicado 2023

Exertional rhabdomyolysis: physiological response or manifestation of an underlying myopathy?

por Scalco, Renata S, Snoeck, Marc, Quinlivan, Ros, Treves, Susan, Laforét, Pascal, Jungbluth, Heinz, Voermans, Nicol C
Publicado 2016

Impaired fat oxidation during exercise in multiple acyl‐CoA dehydrogenase deficiency

por Madsen, Karen L., Preisler, Nicolai, Buch, Astrid E., Stemmerik, Mads G., Laforêt, Pascal, Vissing, John
Publicado 2019

Minutes of the European POmpe Consortium (EPOC) Meeting March 27 to 28, 2015, Munich, Germany

por Schoser, Benedikt, Laforêt, Pascal, Kruijshaar, Michelle E., Toscano, Antonio, van Doorn, Pieter A., van der Ploeg, Ans T.
Publicado 2015

Urine glucose tetrasaccharide: A good biomarker for glycogenoses type II and III? A study of the French cohort

por Piraud, Monique, Pettazzoni, Magali, de Antonio, Marie, Vianey-Saban, Christine, Froissart, Roseline, Chabrol, Brigitte, Young, Sarah, Laforêt, Pascal
Publicado 2020

Glycogenin-1 deficiency mimicking limb-girdle muscular dystrophy

por Lefeuvre, Claire, Schaeffer, Stéphane, Carlier, Robert-Yves, Fournier, Maxime, Chapon, Françoise, Biancalana, Valérie, Nicolas, Guillaume, Malfatti, Edoardo, Laforêt, Pascal
Publicado 2020

Systemic light chain amyloidosis myopathy responsive to daratumumab monotherapy

por Chitimus, Diana Maria, Berling, Edouard, Garderet, Laurent, Venturelli, Nadia, Malfatti, Edoardo, Authier, François Jérôme, Nicolas, Guillaume, Laforêt, Pascal, Lefeuvre, Claire
Publicado 2022

Assessment of diaphragm motion using ultrasonography in a patient with facio-scapulo-humeral dystrophy: A case report

por Fayssoil, Abdallah, Stojkovic, Tanya, Ogna, Adam, Laforet, Pascal, Prigent, Helene, Lofaso, Frederic, Orlikowski, David, Bassez, Guillaume, Eymard, Bruno, Behin, Anthony
Publicado 2019

Skeletal muscle metabolism during prolonged exercise in Pompe disease

por Preisler, Nicolai, Laforêt, Pascal, Madsen, Karen Lindhardt, Husu, Edith, Vissing, Christoffer Rasmus, Hedermann, Gitte, Galbo, Henrik, Lindberg, Christopher, Vissing, John
Publicado 2017

French recommendations for the management of glycogen storage disease type III

por Wicker, Camille, Cano, Aline, Decostre, Valérie, Froissart, Roseline, Maillot, François, Perry, Ariane, Petit, François, Voillot, Catherine, Wahbi, Karim, Wenz, Joëlle, Laforêt, Pascal, Labrune, Philippe
Publicado 2023

Skeletal muscle quantitative nuclear magnetic resonance imaging follow-up of adult Pompe patients

por Carlier, Pierre G., Azzabou, Noura, de Sousa, Paulo Loureiro, Hicks, Arnaud, Boisserie, Jean-Marc, Amadon, Alexis, Carlier, Robert-Yves, Wary, Claire, Orlikowski, David, Laforêt, Pascal
Publicado 2015

Clinical profiles and prognosis of acute heart failure in adult patients with dystrophinopathies on home mechanical ventilation

por Fayssoil, Abdallah, Yaou, Rabah Ben, Ogna, Adam, Leturcq, France, Nardi, Olivier, Clair, Bernard, Wahbi, Karim, Lofaso, Frederic, Laforet, Pascal, Duboc, Denis, Orlikowski, David, Annane, Djillali
Publicado 2017

A Proteomics-Based Analysis Reveals Predictive Biological Patterns in Fabry Disease

por Tebani, Abdellah, Mauhin, Wladimir, Abily-Donval, Lenaig, Lesueur, Céline, Berger, Marc G., Nadjar, Yann, Berger, Juliette, Benveniste, Oliver, Lamari, Foudil, Laforêt, Pascal, Noel, Esther, Marret, Stéphane, Lidove, Olivier, Bekri, Soumeya
Publicado 2020

Partial lipodystrophy with severe insulin resistance and adult progeria Werner syndrome

por Donadille, Bruno, D’Anella, Pascal, Auclair, Martine, Uhrhammer, Nancy, Sorel, Marc, Grigorescu, Romulus, Ouzounian, Sophie, Cambonie, Gilles, Boulot, Pierre, Laforêt, Pascal, Carbonne, Bruno, Christin-Maitre, Sophie, Bignon, Yves-Jean, Vigouroux, Corinne
Publicado 2013

Cervical Spinal Cord Atrophy Profile in Adult SMN1-Linked SMA

por El Mendili, Mohamed-Mounir, Lenglet, Timothée, Stojkovic, Tanya, Behin, Anthony, Guimarães-Costa, Raquel, Salachas, François, Meininger, Vincent, Bruneteau, Gaelle, Le Forestier, Nadine, Laforêt, Pascal, Lehéricy, Stéphane, Benali, Habib, Pradat, Pierre-François
Publicado 2016

Correction: Cervical Spinal Cord Atrophy Profile in Adult SMN1-Linked SMA

por El Mendili, Mohamed-Mounir, Lenglet, Timothée, Stojkovic, Tanya, Behin, Anthony, Guimarães-Costa, Raquel, Salachas, François, Meininger, Vincent, Bruneteau, Gaelle, Le Forestier, Nadine, Laforêt, Pascal, Lehéricy, Stéphane, Benali, Habib, Pradat, Pierre-François
Publicado 2016

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

por Byrne, Barry J., Geberhiwot, Tarekegn, Barshop, Bruce A., Barohn, Richard, Hughes, Derralynn, Bratkovic, Drago, Desnuelle, Claude, Laforet, Pascal, Mengel, Eugen, Roberts, Mark, Haroldsen, Peter, Reilley, Kristin, Jayaram, Kala, Yang, Ke, Walsh, Liron
Publicado 2017

Diaphragm: Pathophysiology and Ultrasound Imaging in Neuromuscular Disorders

por Fayssoil, Abdallah, Behin, Anthony, Ogna, Adam, Mompoint, Dominique, Amthor, Helge, Clair, Bernard, Laforet, Pascal, Mansart, Arnaud, Prigent, Helene, Orlikowski, David, Stojkovic, Tanya, Vinit, Stéphane, Carlier, Robert, Eymard, Bruno, Lofaso, Frederic, Annane, Djillali
Publicado 2018