Progress and challenges of gene therapy for Pompe disease

द्वारा Ronzitti, Giuseppe, Collaud, Fanny, Laforet, Pascal, Mingozzi, Federico
में प्रकाशित Ann Transl Med (2019)

Renal artery fibromuscular dysplasia in Pompe disease: A case report

द्वारा Pappa, Evangelia, Papadopoulos, Constantinos, Grimbert, Philippe, Laforêt, Pascal, Bassez, Guillaume
में प्रकाशित Mol Genet Metab Rep (2018)

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

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

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

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

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

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

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

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

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

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

Glycogenin-1 deficiency mimicking limb-girdle muscular dystrophy

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

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

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

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

द्वारा 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
में प्रकाशित J Inherit Metab Dis (2015)

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

द्वारा 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
में प्रकाशित ESC Heart Fail (2017)

DNAJB2 Expression in Normal and Diseased Human and Mouse Skeletal Muscle

द्वारा 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
प्रकाशित 2010

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

द्वारा 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
प्रकाशित 2014

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

द्वारा 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
में प्रकाशित J Clin Med (2020)

Partial lipodystrophy with severe insulin resistance and adult progeria Werner syndrome

द्वारा 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
प्रकाशित 2013

Cervical Spinal Cord Atrophy Profile in Adult SMN1-Linked SMA

द्वारा 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
में प्रकाशित PLoS One (2016)

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

द्वारा 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
में प्रकाशित PLoS One (2016)

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

द्वारा 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
में प्रकाशित Neurology (2015)

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

द्वारा 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
में प्रकाशित Orphanet J Rare Dis (2017)

Diaphragm: Pathophysiology and Ultrasound Imaging in Neuromuscular Disorders

द्वारा 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
में प्रकाशित J Neuromuscul Dis (2018)