Bibliotecas PUC-SP - Busca Integrada

Identification of wheelchair seating criteria in adults with neuromuscular diseases: A Delphi study.

за авторством Elise Dupitier, Manon Voisin, Caroline Stalens, Pascal Laforêt, Samuel Pouplin
Опубліковано в: PLoS ONE (2023-01-01)

Renal artery fibromuscular dysplasia in Pompe disease: A case report

за авторством Evangelia Pappa, Constantinos Papadopoulos, Philippe Grimbert, Pascal Laforêt, Guillaume Bassez
Опубліковано в: Molecular Genetics and Metabolism Reports (2018-09-01)

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

за авторством Monique Piraud, Magali Pettazzoni, Marie de Antonio, Christine Vianey-Saban, Roseline Froissart, Brigitte Chabrol, Sarah Young, Pascal Laforêt
Опубліковано в: Molecular Genetics and Metabolism Reports (2020-06-01)

Medical expenses and care pathways of patients with Pompe receiving myozyme: an observational study based on the French national healthcare database

за авторством Alicia Le Bras, Pascale De Lonlay, Shahram Attarian, Anaïs Brassier, Isabelle Durand-Zaleski, Pascal Laforêt, Pompe Study Group
Опубліковано в: Orphanet Journal of Rare Diseases (2025-10-01)

Camptocormia as a feature of Mc Ardle's disease: A case report

за авторством Mathilde Nicolas, Chloé Giret, Sybille Pellieux, Annick Toutain, Anne-Marie Bergemer-Fouquet, Pascal Laforêt, Loic Bouilleau, François Maillot
Опубліковано в: Molecular Genetics and Metabolism Reports (2025-03-01)

Glycogenin-1 deficiency mimicking limb-girdle muscular dystrophy

за авторством Claire Lefeuvre, Stéphane Schaeffer, Robert-Yves Carlier, Maxime Fournier, Françoise Chapon, Valérie Biancalana, Guillaume Nicolas, Edoardo Malfatti, Pascal Laforêt
Опубліковано в: Molecular Genetics and Metabolism Reports (2020-09-01)

Skeletal muscle metabolism during prolonged exercise in Pompe disease

за авторством Nicolai Preisler, Pascal Laforêt, Karen Lindhardt Madsen, Edith Husu, Christoffer Rasmus Vissing, Gitte Hedermann, Henrik Galbo, Christopher Lindberg, John Vissing
Опубліковано в: Endocrine Connections (2017-07-01)

French recommendations for the management of glycogen storage disease type III

за авторством Camille Wicker, Aline Cano, Valérie Decostre, Roseline Froissart, François Maillot, Ariane Perry, François Petit, Catherine Voillot, Karim Wahbi, Joëlle Wenz, Pascal Laforêt, Philippe Labrune
Опубліковано в: European Journal of Medical Research (2023-07-01)

Galectin-3: a novel biomarker of glycogen storage disease type III

за авторством Lucille Rossiaud, Quentin Miagoux, Manon Benabides, Océane Reiss, Louisa Jauze, Margot Jarrige, Hélène Polvèche, Edoardo Malfatti, Pascal Laforêt, Giuseppe Ronzitti, Xavier Nissan, Lucile Hoch
Опубліковано в: Cell Death Discovery (2025-04-01)

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

за авторством 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
Опубліковано в: Journal of Clinical Medicine (2020-05-01)

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

за авторством 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
Опубліковано в: PLoS ONE (2016-01-01)

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

за авторством 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
Опубліковано в: PLoS ONE (2016-01-01)

Real-world evidence for Pompe disease remains fragmented. Comment on “A rare partnership: patient community and industry collaboration to shape the impact of real-world evidence on...

за авторством Michelle E. Kruijshaar, Tiffany House, Benedikt Schoser, Pascal Laforêt, Maudy T. M. Theunissen, Stephan Wenninger, Thomas Hundsberger, Jordi Diaz-Manera, Ans T. van der Ploeg, Nadine A. M. E. van der Beek
Опубліковано в: Orphanet Journal of Rare Diseases (2025-02-01)

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...

за авторством 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
Опубліковано в: PLoS ONE (2016-01-01)

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

за авторством 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
Опубліковано в: PLoS ONE (2019-01-01)

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

за авторством 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
Опубліковано в: PLoS ONE (2018-01-01)

No effect of triheptanoin on exercise performance in McArdle disease

за авторством 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
Опубліковано в: Annals of Clinical and Translational Neurology (2019-10-01)

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

за авторством 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
Опубліковано в: Orphanet Journal of Rare Diseases (2017-08-01)

Prognosis of Right Ventricular Systolic Dysfunction in Patients With Duchenne Muscular Dystrophy

за авторством Abdallah Fayssoil, Nicolas Mansencal, Lee S. Nguyen, Olivier Nardi, Rabah Ben Yaou, France Leturcq, Helge Amthor, Karim Wahbi, Henri Marc Becane, Frederic Lofaso, Helene Prigent, Guillaume Bassez, Anthony Behin, Tanya Stojkovic, Bertrand Fontaine, Denis Duboc, Olivier Dubourg, Bernard Clair, Pascal Laforet, Djillali Annane, David Orlikowski
Опубліковано в: Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease (2023-08-01)

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

за авторством 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
Опубліковано в: Orphanet Journal of Rare Diseases (2020-10-01)