Progress and challenges of gene therapy for Pompe disease

por Ronzitti, Giuseppe, Collaud, Fanny, Laforet, Pascal, Mingozzi, Federico
Publicado no Ann Transl Med (2019)

Renal artery fibromuscular dysplasia in Pompe disease: A case report

por Pappa, Evangelia, Papadopoulos, Constantinos, Grimbert, Philippe, Laforêt, Pascal, Bassez, Guillaume
Publicado no Mol Genet Metab Rep (2018)

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

por Ørngreen, Mette Cathrine, Madsen, Karen Lindhardt, Preisler, Nicolai, Andersen, Grete, Vissing, John, Laforêt, Pascal
Publicado em 2014

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 no BMJ Open Sport Exerc Med (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 no JIMD Rep (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 no Acta Myol (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 no Mol Genet Metab Rep (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 no Mol Genet Metab Rep (2020)

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 no Medicine (Baltimore) (2019)

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 no J Inherit Metab Dis (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 no ESC Heart Fail (2017)

DNAJB2 Expression in Normal and Diseased Human and Mouse Skeletal Muscle

por 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
Publicado em 2010

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

por 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
Publicado em 2014

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 no J Clin Med (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 em 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 no PLoS One (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 no PLoS One (2016)

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

por 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
Publicado no Neurology (2015)

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 no Orphanet J Rare Dis (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 no J Neuromuscul Dis (2018)