Progress and challenges of gene therapy for Pompe disease

Tekijä Ronzitti, Giuseppe, Collaud, Fanny, Laforet, Pascal, Mingozzi, Federico
Julkaisussa Ann Transl Med (2019)

Renal artery fibromuscular dysplasia in Pompe disease: A case report

Tekijä Pappa, Evangelia, Papadopoulos, Constantinos, Grimbert, Philippe, Laforêt, Pascal, Bassez, Guillaume
Julkaisussa Mol Genet Metab Rep (2018)

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

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

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

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

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

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

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

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

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

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

Glycogenin-1 deficiency mimicking limb-girdle muscular dystrophy

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

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

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

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

Tekijä 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
Julkaisussa J Inherit Metab Dis (2015)

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

Tekijä 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
Julkaisussa ESC Heart Fail (2017)

DNAJB2 Expression in Normal and Diseased Human and Mouse Skeletal Muscle

Tekijä 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
Julkaistu 2010

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

Tekijä 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
Julkaistu 2014

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

Tekijä 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
Julkaisussa J Clin Med (2020)

Partial lipodystrophy with severe insulin resistance and adult progeria Werner syndrome

Tekijä 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
Julkaistu 2013

Cervical Spinal Cord Atrophy Profile in Adult SMN1-Linked SMA

Tekijä 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
Julkaisussa PLoS One (2016)

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

Tekijä 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
Julkaisussa PLoS One (2016)

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

Tekijä 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
Julkaisussa Neurology (2015)

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

Tekijä 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
Julkaisussa Orphanet J Rare Dis (2017)

Diaphragm: Pathophysiology and Ultrasound Imaging in Neuromuscular Disorders

Tekijä 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
Julkaisussa J Neuromuscul Dis (2018)