Progress and challenges of gene therapy for Pompe disease

著者: Ronzitti, Giuseppe, Collaud, Fanny, Laforet, Pascal, Mingozzi, Federico
出版年 Ann Transl Med (2019)

Renal artery fibromuscular dysplasia in Pompe disease: A case report

著者: Pappa, Evangelia, Papadopoulos, Constantinos, Grimbert, Philippe, Laforêt, Pascal, Bassez, Guillaume
出版年 Mol Genet Metab Rep (2018)

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

著者: Ørngreen, Mette Cathrine, Madsen, Karen Lindhardt, Preisler, Nicolai, Andersen, Grete, Vissing, John, Laforêt, Pascal
出版事項 2014

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

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

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

著者: Madsen, Karen L., Preisler, Nicolai, Buch, Astrid E., Stemmerik, Mads G., Laforêt, Pascal, Vissing, John
出版年 JIMD Rep (2019)

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

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

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

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

Glycogenin-1 deficiency mimicking limb-girdle muscular dystrophy

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

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

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

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

著者: 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
出版年 J Inherit Metab Dis (2015)

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

著者: 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
出版年 ESC Heart Fail (2017)

DNAJB2 Expression in Normal and Diseased Human and Mouse Skeletal Muscle

著者: 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
出版事項 2010

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

著者: 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
出版事項 2014

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

著者: 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
出版年 J Clin Med (2020)

Partial lipodystrophy with severe insulin resistance and adult progeria Werner syndrome

著者: 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
出版事項 2013

Cervical Spinal Cord Atrophy Profile in Adult SMN1-Linked SMA

著者: 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
出版年 PLoS One (2016)

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

著者: 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
出版年 PLoS One (2016)

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

著者: 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
出版年 Neurology (2015)

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

著者: 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
出版年 Orphanet J Rare Dis (2017)

Diaphragm: Pathophysiology and Ultrasound Imaging in Neuromuscular Disorders

著者: 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
出版年 J Neuromuscul Dis (2018)