Hasil Pencarian - Pascal Laforet

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  1. 1
    Identification of wheelchair seating criteria in adults with neuromuscular diseases: A Delphi study.

    Identification of wheelchair seating criteria in adults with neuromuscular diseases: A Delphi study. oleh Elise Dupitier, Manon Voisin, Caroline Stalens, Pascal Laforêt, Samuel Pouplin

    Diterbitkan 2023-01-01
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  2. 2
    Renal artery fibromuscular dysplasia in Pompe disease: A case report

    Renal artery fibromuscular dysplasia in Pompe disease: A case report oleh Evangelia Pappa, Constantinos Papadopoulos, Philippe Grimbert, Pascal Laforêt, Guillaume Bassez

    Diterbitkan 2018-09-01
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  3. 3
    Urine glucose tetrasaccharide: A good biomarker for glycogenoses type II and III? A study of the French cohort

    Urine glucose tetrasaccharide: A good biomarker for glycogenoses type II and III? A study of the French cohort oleh Monique Piraud, Magali Pettazzoni, Marie de Antonio, Christine Vianey-Saban, Roseline Froissart, Brigitte Chabrol, Sarah Young, Pascal Laforêt

    Diterbitkan 2020-06-01
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  4. 4
    Glycogenin-1 deficiency mimicking limb-girdle muscular dystrophy

    Glycogenin-1 deficiency mimicking limb-girdle muscular dystrophy oleh Claire Lefeuvre, Stéphane Schaeffer, Robert-Yves Carlier, Maxime Fournier, Françoise Chapon, Valérie Biancalana, Guillaume Nicolas, Edoardo Malfatti, Pascal Laforêt

    Diterbitkan 2020-09-01
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  5. 5
    Skeletal muscle metabolism during prolonged exercise in Pompe disease

    Skeletal muscle metabolism during prolonged exercise in Pompe disease oleh Nicolai Preisler, Pascal Laforêt, Karen Lindhardt Madsen, Edith Husu, Christoffer Rasmus Vissing, Gitte Hedermann, Henrik Galbo, Christopher Lindberg, John Vissing

    Diterbitkan 2017-07-01
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  6. 6
    French recommendations for the management of glycogen storage disease type III

    French recommendations for the management of glycogen storage disease type III oleh Camille Wicker, Aline Cano, Valérie Decostre, Roseline Froissart, François Maillot, Ariane Perry, François Petit, Catherine Voillot, Karim Wahbi, Joëlle Wenz, Pascal Laforêt, Philippe Labrune

    Diterbitkan 2023-07-01
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  7. 7
    Correction: Cervical Spinal Cord Atrophy Profile in Adult SMN1-Linked SMA.

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

    Diterbitkan 2016-01-01
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  8. 8
    Cervical Spinal Cord Atrophy Profile in Adult SMN1-Linked SMA.

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

    Diterbitkan 2016-01-01
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  9. 9
    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 2D.

    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... oleh 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

    Diterbitkan 2016-01-01
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  10. 10
    Diaphragm sniff ultrasound: Normal values, relationship with sniff nasal pressure and accuracy for predicting respiratory involvement in patients with neuromuscular disorders.

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

    Diterbitkan 2019-01-01
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  11. 11
    A study on the safety and efficacy of reveglucosidase alfa in patients with late-onset Pompe disease

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

    Diterbitkan 2017-08-01
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  12. 12
    No effect of triheptanoin on exercise performance in McArdle disease

    No effect of triheptanoin on exercise performance in McArdle disease oleh 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

    Diterbitkan 2019-10-01
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  13. 13
    Left bundle branch block in Duchenne muscular dystrophy: Prevalence, genetic relationship and prognosis.

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

    Diterbitkan 2018-01-01
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  14. 14
    Prognosis of Right Ventricular Systolic Dysfunction in Patients With Duchenne Muscular Dystrophy

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

    Diterbitkan 2023-08-01
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  15. 15
    Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry)

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

    Diterbitkan 2020-10-01
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  16. 16
    Objective Evaluation of Clinical Actionability for Genes Involved in Myopathies: 63 Genes with a Medical Value for Patient Care

    Objective Evaluation of Clinical Actionability for Genes Involved in Myopathies: 63 Genes with a Medical Value for Patient Care oleh Maude Vecten, Emmanuelle Pion, Marc Bartoli, Raul Juntas Morales, Damien Sternberg, John Rendu, Tanya Stojkovic, Cécile Acquaviva Bourdain, Corinne Métay, Isabelle Richard, Mathieu Cerino, Mathieu Milh, Emmanuelle Campana-Salort, Svetlana Gorokhova, Nicolas Levy, Xénia Latypova, Gisèle Bonne, Valérie Biancalana, François Petit, Annamaria Molon, Aurélien Perrin, Pascal Laforêt, Shahram Attarian, Martin Krahn, Mireille Cossée

    Diterbitkan 2022-07-01
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  17. 17
    The spinal and cerebral profile of adult spinal-muscular atrophy: A multimodal imaging study

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

    Diterbitkan 2019-01-01
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  18. 18
    Deep morphological analysis of muscle biopsies from type III glycogenesis (GSDIII), debranching enzyme deficiency, revealed stereotyped vacuolar myopathy and autophagy impairment

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

    Diterbitkan 2019-10-01
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  19. 19
    Data from the European registry for patients with McArdle disease (EUROMAC): functional status and social participation

    Data from the European registry for patients with McArdle disease (EUROMAC): functional status and social participation oleh Walaa Karazi, Renata S. Scalco, Mads G. Stemmerik, Nicoline Løkken, Alejandro Lucia, Alfredo Santalla, Andrea Martinuzzi, Marinela Vavla, Gianluigi Reni, Antonio Toscano, Olimpia Musumeci, Carlyn V. Kouwenberg, Pascal Laforêt, Beatriz San Millán, Irene Vieitez, Gabriele Siciliano, Enrico Kühnle, Rebecca Trost, Sabrina Sacconi, Hacer Durmus, Biruta Kierdaszuk, Andrew Wakelin, Antoni L. Andreu, Tomàs Pinós, Ramon Marti, Ros Quinlivan, John Vissing, Nicol C. Voermans, EUROMAC Consortium

    Diterbitkan 2023-07-01
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  20. 20
    Multidisciplinary team meetings in treatment of spinal muscular atrophy adult patients: a real-life observatory for innovative treatments

    Multidisciplinary team meetings in treatment of spinal muscular atrophy adult patients: a real-life observatory for innovative treatments oleh Emmanuelle Salort-Campana, Guilhem Solé, Armelle Magot, Céline Tard, Jean-Baptiste Noury, Anthony Behin, Elisa De La Cruz, François Boyer, Claire Lefeuvre, Marion Masingue, Louise Debergé, Armelle Finet, Mélanie Brison, Marco Spinazzi, Antoine Pegat, Sabrina Sacconi, Edoardo Malfatti, Ariane Choumert, Rémi Bellance, Anne-Laure Bedat-Millet, Léonard Feasson, Carole Vuillerot, Agnès Jacquin-Piques, Maud Michaud, Yann Pereon, Tanya Stojkovic, Pascal Laforêt, Shahram Attarian, Pascal Cintas

    Diterbitkan 2024-01-01
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