Progress and challenges of gene therapy for Pompe disease

by Ronzitti, Giuseppe, Collaud, Fanny, Laforet, Pascal, Mingozzi, Federico
Published in Ann Transl Med (2019)

Renal artery fibromuscular dysplasia in Pompe disease: A case report

by Pappa, Evangelia, Papadopoulos, Constantinos, Grimbert, Philippe, Laforêt, Pascal, Bassez, Guillaume
Published in Mol Genet Metab Rep (2018)

Bezafibrate in skeletal muscle fatty acid oxidation disorders: A randomized clinical trial

by Ørngreen, Mette Cathrine, Madsen, Karen Lindhardt, Preisler, Nicolai, Andersen, Grete, Vissing, John, Laforêt, Pascal
Published 2014

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

by Scalco, Renata S, Snoeck, Marc, Quinlivan, Ros, Treves, Susan, Laforét, Pascal, Jungbluth, Heinz, Voermans, Nicol C
Published in BMJ Open Sport Exerc Med (2016)

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

by Madsen, Karen L., Preisler, Nicolai, Buch, Astrid E., Stemmerik, Mads G., Laforêt, Pascal, Vissing, John
Published in JIMD Rep (2019)

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

by Schoser, Benedikt, Laforêt, Pascal, Kruijshaar, Michelle E., Toscano, Antonio, van Doorn, Pieter A., van der Ploeg, Ans T.
Published in Acta Myol (2015)

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

by Piraud, Monique, Pettazzoni, Magali, de Antonio, Marie, Vianey-Saban, Christine, Froissart, Roseline, Chabrol, Brigitte, Young, Sarah, Laforêt, Pascal
Published in Mol Genet Metab Rep (2020)

Glycogenin-1 deficiency mimicking limb-girdle muscular dystrophy

by Lefeuvre, Claire, Schaeffer, Stéphane, Carlier, Robert-Yves, Fournier, Maxime, Chapon, Françoise, Biancalana, Valérie, Nicolas, Guillaume, Malfatti, Edoardo, Laforêt, Pascal
Published in Mol Genet Metab Rep (2020)

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

by Fayssoil, Abdallah, Stojkovic, Tanya, Ogna, Adam, Laforet, Pascal, Prigent, Helene, Lofaso, Frederic, Orlikowski, David, Bassez, Guillaume, Eymard, Bruno, Behin, Anthony
Published in Medicine (Baltimore) (2019)

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

by 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
Published in J Inherit Metab Dis (2015)

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

by 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
Published in ESC Heart Fail (2017)

DNAJB2 Expression in Normal and Diseased Human and Mouse Skeletal Muscle

by Claeys, Kristl G., Sozanska, Magdalena, Martin, Jean-Jacques, Lacene, Emmanuelle, Vignaud, Ludivine, Stockholm, Daniel, Laforêt, Pascal, Eymard, Bruno, Kichler, Antoine, Scherman, Daniel, Voit, Thomas, Israeli, David
Published 2010

Autologous Myoblast Transplantation for Oculopharyngeal Muscular Dystrophy: a Phase I/Iia Clinical Study

by Périé, Sophie, Trollet, Capucine, Mouly, Vincent, Vanneaux, Valérie, Mamchaoui, Kamel, Bouazza, Belaïd, Marolleau, Jean Pierre, Laforêt, Pascal, Chapon, Françoise, Eymard, Bruno, Butler-Browne, Gillian, Larghero, Jérome, St Guily, Jean Lacau
Published 2014

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

by 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
Published in J Clin Med (2020)

Partial lipodystrophy with severe insulin resistance and adult progeria Werner syndrome

by 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
Published 2013

Cervical Spinal Cord Atrophy Profile in Adult SMN1-Linked SMA

by 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
Published in PLoS One (2016)

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

by 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
Published in PLoS One (2016)

Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E

by Semplicini, Claudio, Vissing, John, Dahlqvist, Julia R., Stojkovic, Tanya, Bello, Luca, Witting, Nanna, Duno, Morten, Leturcq, France, Bertolin, Cinzia, D'Ambrosio, Paola, Eymard, Bruno, Angelini, Corrado, Politano, Luisa, Laforêt, Pascal, Pegoraro, Elena
Published in Neurology (2015)

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

by 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
Published in Orphanet J Rare Dis (2017)

Diaphragm: Pathophysiology and Ultrasound Imaging in Neuromuscular Disorders

by 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
Published in J Neuromuscul Dis (2018)