Renal artery fibromuscular dysplasia in Pompe disease: A case report

by Evangelia Pappa, Constantinos Papadopoulos, Philippe Grimbert, Pascal Laforêt, Guillaume Bassez
Published 2018-09-01

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

by Monique Piraud, Magali Pettazzoni, Marie de Antonio, Christine Vianey-Saban, Roseline Froissart, Brigitte Chabrol, Sarah Young, Pascal Laforêt
Published 2020-06-01

Glycogenin-1 deficiency mimicking limb-girdle muscular dystrophy

by Claire Lefeuvre, Stéphane Schaeffer, Robert-Yves Carlier, Maxime Fournier, Françoise Chapon, Valérie Biancalana, Guillaume Nicolas, Edoardo Malfatti, Pascal Laforêt
Published 2020-09-01

Skeletal muscle metabolism during prolonged exercise in Pompe disease

by Nicolai Preisler, Pascal Laforêt, Karen Lindhardt Madsen, Edith Husu, Christoffer Rasmus Vissing, Gitte Hedermann, Henrik Galbo, Christopher Lindberg, John Vissing
Published 2017-07-01

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

by Abdellah Tebani, Wladimir Mauhin, Lenaig Abily-Donval, Céline Lesueur, Marc G. Berger, Yann Nadjar, Juliette Berger, Oliver Benveniste, Foudil Lamari, Pascal Laforêt, Esther Noel, Stéphane Marret, Olivier Lidove, Soumeya Bekri
Published 2020-05-01

Cervical Spinal Cord Atrophy Profile in Adult SMN1-Linked SMA.

by Mohamed-Mounir El Mendili, Timothée Lenglet, Tanya Stojkovic, Anthony Behin, Raquel Guimarães-Costa, François Salachas, Vincent Meininger, Gaelle Bruneteau, Nadine Le Forestier, Pascal Laforêt, Stéphane Lehéricy, Habib Benali, Pierre-François Pradat
Published 2016-01-01

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

by Mohamed-Mounir El Mendili, Timothée Lenglet, Tanya Stojkovic, Anthony Behin, Raquel Guimarães-Costa, François Salachas, Vincent Meininger, Gaelle Bruneteau, Nadine Le Forestier, Pascal Laforêt, Stéphane Lehéricy, Habib Benali, Pierre-François Pradat
Published 2016-01-01

Natural History of Cardiac and Respiratory Involvement, Prognosis and Predictive Factors for Long-Term Survival in Adult Patients with Limb Girdle Muscular Dystrophies Type 2C and...

by Abdallah Fayssoil, Adam Ogna, Cendrine Chaffaut, Sylvie Chevret, Raquel Guimarães-Costa, France Leturcq, Karim Wahbi, Helene Prigent, Frederic Lofaso, Olivier Nardi, Bernard Clair, Anthony Behin, Tanya Stojkovic, Pascal Laforet, David Orlikowski, Djillali Annane
Published 2016-01-01

Diaphragm sniff ultrasound: Normal values, relationship with sniff nasal pressure and accuracy for predicting respiratory involvement in patients with neuromuscular disorders.

by Abdallah Fayssoil, Lee S Nguyen, Adam Ogna, Tanya Stojkovic, Paris Meng, Dominique Mompoint, Robert Carlier, Helene Prigent, Bernard Clair, Anthony Behin, Pascal Laforet, Guillaume Bassez, Pascal Crenn, David Orlikowski, Djillali Annane, Bruno Eymard, Frederic Lofaso
Published 2019-01-01

Left bundle branch block in Duchenne muscular dystrophy: Prevalence, genetic relationship and prognosis.

by Abdallah Fayssoil, Rabah Ben Yaou, Adam Ogna, Cendrine Chaffaut, France Leturcq, Olivier Nardi, Karim Wahbi, Denis Duboc, Frederic Lofaso, Helene Prigent, Bernard Clair, Pascal Crenn, Guillaume Nicolas, Pascal Laforet, Anthony Behin, Sylvie Chevret, David Orlikowski, Djillali Annane
Published 2018-01-01

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

by Barry J. Byrne, Tarekegn Geberhiwot, Bruce A. Barshop, Richard Barohn, Derralynn Hughes, Drago Bratkovic, Claude Desnuelle, Pascal Laforet, Eugen Mengel, Mark Roberts, Peter Haroldsen, Kristin Reilley, Kala Jayaram, Ke Yang, Liron Walsh, on behalf of the POM-001/002 Investigators
Published 2017-08-01

No effect of triheptanoin on exercise performance in McArdle disease

by Karen L. Madsen, Pascal Laforêt, Astrid E. Buch, Mads G. Stemmerik, Chris Ottolenghi, Stéphane N. Hatem, Daniel T. Raaschou‐Pedersen, Nanna S. Poulsen, Maria Atencio, Marie‐Pierre Luton, Alexandre Ceccaldi, Ronald G. Haller, Ros Quinlivan, Fanny Mochel, John Vissing
Published 2019-10-01

Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry)

by Tomàs Pinós, Antoni L. Andreu, Claudio Bruno, Georgios M. Hadjigeorgiou, Ronald G. Haller, Pascal Laforêt, Alejandro Lucía, Miguel A. Martín, Andrea Martinuzzi, Carmen Navarro, Piraye Oflazer, Jean Pouget, Ros Quinlivan, Sabrina Sacconi, Renata S. Scalco, Antonio Toscano, John Vissing, Matthias Vorgerd, Andrew Wakelin, Ramon Martí, EUROMAC Consortium
Published 2020-10-01

Deep morphological analysis of muscle biopsies from type III glycogenesis (GSDIII), debranching enzyme deficiency, revealed stereotyped vacuolar myopathy and autophagy impairment

by Pascal Laforêt, Michio Inoue, Evelyne Goillot, Claire Lefeuvre, Umut Cagin, Nathalie Streichenberger, Sarah Leonard-Louis, Guy Brochier, Angeline Madelaine, Clemence Labasse, Carola Hedberg-Oldfors, Thomas Krag, Louisa Jauze, Julien Fabregue, Philippe Labrune, Jose Milisenda, Aleksandra Nadaj-Pakleza, Sabrina Sacconi, Federico Mingozzi, Giuseppe Ronzitti, François Petit, Benedikt Schoser, Anders Oldfors, John Vissing, Norma B. Romero, Ichizo Nishino, Edoardo Malfatti
Published 2019-10-01

The spinal and cerebral profile of adult spinal-muscular atrophy: A multimodal imaging study

by Giorgia Querin, Mohamed-Mounir El Mendili, Timothée Lenglet, Anthony Behin, Tanya Stojkovic, François Salachas, David Devos, Nadine Le Forestier, Maria del Mar Amador, Rabab Debs, Lucette Lacomblez, Vincent Meninger, Gaëlle Bruneteau, Julien Cohen-Adad, Stéphane Lehéricy, Pascal Laforêt, Sophie Blancho, Habib Benali, Martin Catala, Menghan Li, Véronique Marchand-Pauvert, Jean-Yves Hogrel, Peter Bede, Pierre-François Pradat
Published 2019-01-01

Gender as a Modifying Factor Influencing Myotonic Dystrophy Type 1 Phenotype Severity and Mortality: A Nationwide Multiple Databases Cross-Sectional Observational Study.

by Celine Dogan, Marie De Antonio, Dalil Hamroun, Hugo Varet, Marianne Fabbro, Felix Rougier, Khadija Amarof, Marie-Christine Arne Bes, Anne-Laure Bedat-Millet, Anthony Behin, Remi Bellance, Françoise Bouhour, Celia Boutte, François Boyer, Emmanuelle Campana-Salort, Françoise Chapon, Pascal Cintas, Claude Desnuelle, Romain Deschamps, Valerie Drouin-Garraud, Xavier Ferrer, Helene Gervais-Bernard, Karima Ghorab, Pascal Laforet, Armelle Magot, Laurent Magy, Dominique Menard, Marie-Christine Minot, Aleksandra Nadaj-Pakleza, Sybille Pellieux, Yann Pereon, Marguerite Preudhomme, Jean Pouget, Sabrina Sacconi, Guilhem Sole, Tanya Stojkovich, Vincent Tiffreau, Andoni Urtizberea, Christophe Vial, Fabien Zagnoli, Gilbert Caranhac, Claude Bourlier, Gerard Riviere, Alain Geille, Romain K Gherardi, Bruno Eymard, Jack Puymirat, Sandrine Katsahian, Guillaume Bassez
Published 2016-01-01