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Identification of wheelchair seating criteria in adults with neuromuscular diseases: A Delphi study
Author / Creator:Dupitier, Elise ; Voisin, Manon ; Stalens, Caroline ; Laforêt, Pascal ; Pouplin, Samuel
Publisher:San Francisco: Public Library of Science
Journal title:PloS one, 2023-09, Vol.18 (9), p.e0290627-e0290627
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The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy
Author / Creator:Fischer, Judith ; Lefèvre, Caroline ; Morava, Eva ; Mussini, Jean-Marie ; Laforêt, Pascal ; Negre-Salvayre, Anne ; Lathrop, Mark ; Salvayre, Robert
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2007-01, Vol.39 (1), p.28-30
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Mutations in dynamin 2 cause dominant centronuclear myopathy
Author / Creator:Bitoun, Marc ; Maugenre, Svetlana ; Jeannet, Pierre-Yves ; Lacène, Emmanuelle ; Ferrer, Xavier ; Laforêt, Pascal ; Martin, Jean-Jacques ; Laporte, Jocelyn ; Lochmüller, Hanns ; Beggs, Alan H ; Fardeau, Michel ; Eymard, Bruno ; Romero, Norma B ; Guicheney, Pascale
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2005-11, Vol.37 (11), p.1207-1209
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Late-onset Pompe disease in France: molecular features and epidemiology from a nationwide study
Author / Creator:Semplicini, Claudio ; Letard, Pascaline ; Marie De Antonio ; Taouagh, Nadjib ; Perniconi, Barbara ; Bouhour, Françoise ; Echaniz-Laguna, Andoni ; Orlikowski, David ; Sacconi, Sabrina ; Salort-Campana, Emmanuelle ; Solé, Guilhem ; Zagnoli, Fabien ; Hamroun, Dalil ; Froissart, Roseline ; Caillaud, Catherine ; Laforêt, Pascal ; Béhin, A ; Eymard, B ; Leonard-Louis, S ; Stojkovic, T ; Bassez, G ; Carlier, P G ; Laloui, K ; Ollivier, G ; Canal, A ; Hogrel, J Y ; Prigent, H ; Desnuelle, C ; Pouget, J ; Piraud, M ; Bedat-Millet, A L ; Boyer, F ; Castaing, Y ; Chapon, F ; Cintas, P ; Durieu, I ; Lacour, A ; Feasson, L ; Furby, A ; Germain, D ; Benistan, K ; Journel, H ; Tiffreau, V ; Tard, C ; Deibener-Kaminsky, J ; Magot, A ; Péréon, Y ; Minot-Myhié, M C ; Nadaj-Pakleza, A ; Nathier, C ; Pellegrini, N ; Petiot, P ; Praline, J ; Vincent, D ; Renard, D ; Carlier, R Y ; Bouibede, F ; Juntas-Morales, R ; Krim, E ; Lagrange, E ; Magy, L ; Michaud, M
Publisher:Dordrecht: Blackwell Publishing Ltd
Journal title:Journal of inherited metabolic disease, 2018-12, Vol.41 (6), p.937
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Cerebral vessel involvement in Pompe disease
Author / Creator:Laforêt, Pascal, MD
Publisher:Bridgewater: EM Inc USA
Journal title:Clinical therapeutics, 2010, Vol.32, p.S51-S51
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Correction: Cervical Spinal Cord Atrophy Profile in Adult SMN1-Linked SMA
Author / Creator: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
Publisher:United States: Public Library of Science
Journal title:PloS one, 2016-12, Vol.11 (12), p.e0167886-e0167886
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Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome
Author / Creator:Sentner, Christiaan P. ; Hoogeveen, Irene J. ; Weinstein, David A. ; Santer, René ; Murphy, Elaine ; McKiernan, Patrick J. ; Steuerwald, Ulrike ; Beauchamp, Nicholas J. ; Taybert, Joanna ; Laforêt, Pascal ; Petit, François M. ; Hubert, Aurélie ; Labrune, Philippe ; Smit, G. Peter A. ; Derks, Terry G. J.
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2016-09, Vol.39 (5), p.697-704
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Autologous Myoblast Transplantation for Oculopharyngeal Muscular Dystrophy: a Phase I/Iia Clinical Study
Author / Creator: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
Publisher:United States: Elsevier Inc
Journal title:Molecular therapy, 2014-01, Vol.22 (1), p.219-225
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Development of new outcome measures for adult SMA type III and IV: a multimodal longitudinal study
Author / Creator:Querin, Giorgia ; Lenglet, Timothée ; Debs, Rabab ; Stojkovic, Tanya ; Behin, Anthony ; Salachas, François ; Le Forestier, Nadine ; Amador, Maria Del Mar ; Bruneteau, Gaëlle ; Laforêt, Pascal ; Blancho, Sophie ; Marchand-Pauvert, Véronique ; Bede, Peter ; Hogrel, Jean-Yves ; Pradat, Pierre-François
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Journal of neurology, 2021-05, Vol.268 (5), p.1792-1802
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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 the rare disease ec...
Author / Creator:Kruijshaar, Michelle E ; House, Tiffany ; Schoser, Benedikt ; Laforêt, Pascal ; Theunissen, Maudy T M ; Wenninger, Stephan ; Hundsberger, Thomas ; Diaz-Manera, Jordi ; van der Ploeg, Ans T ; van der Beek, Nadine A M E
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2025-02, Vol.20 (1), p.74-4, Article 74
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Skeletal muscle quantitative nuclear magnetic resonance imaging follow-up of adult Pompe patients
Author / Creator: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
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2015-05, Vol.38 (3), p.565-572
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French recommendations for the management of glycogen storage disease type III
Author / Creator:Wicker, Camille ; Cano, Aline ; Decostre, Valérie ; Froissart, Roseline ; Maillot, François ; Perry, Ariane ; Petit, François ; Voillot, Catherine ; Wahbi, Karim ; Wenz, Joëlle ; Laforêt, Pascal ; Labrune, Philippe
Publisher:England: BioMed Central Ltd
Journal title:European journal of medical research, 2023-07, Vol.28 (1), p.253-253, Article 253
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Gender as a Modifying Factor Influencing Myotonic Dystrophy Type 1 Phenotype Severity and Mortality: A Nationwide Multiple Databases Cross-Sectional Observational Study
Author / Creator:Dogan, Celine ; De Antonio, Marie ; Hamroun, Dalil ; Varet, Hugo ; Fabbro, Marianne ; Rougier, Felix ; Amarof, Khadija ; Arne Bes, Marie-Christine ; Bedat-Millet, Anne-Laure ; Behin, Anthony ; Bellance, Remi ; Bouhour, Françoise ; Boutte, Celia ; Boyer, François ; Campana-Salort, Emmanuelle ; Chapon, Françoise ; Cintas, Pascal ; Desnuelle, Claude ; Deschamps, Romain ; Drouin-Garraud, Valerie ; Ferrer, Xavier ; Gervais-Bernard, Helene ; Ghorab, Karima ; Laforet, Pascal ; Magot, Armelle ; Magy, Laurent ; Menard, Dominique ; Minot, Marie-Christine ; Nadaj-Pakleza, Aleksandra ; Pellieux, Sybille ; Pereon, Yann ; Preudhomme, Marguerite ; Pouget, Jean ; Sacconi, Sabrina ; Sole, Guilhem ; Stojkovich, Tanya ; Tiffreau, Vincent ; Urtizberea, Andoni ; Vial, Christophe ; Zagnoli, Fabien ; Caranhac, Gilbert ; Bourlier, Claude ; Riviere, Gerard ; Geille, Alain ; Gherardi, Romain K ; Eymard, Bruno ; Puymirat, Jack ; Katsahian, Sandrine ; Bassez, Guillaume
Publisher:United States: Public Library of Science
Journal title:PloS one, 2016-02, Vol.11 (2), p.e0148264-e0148264
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Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohort
Author / Creator:Quijano-Roy, Susana ; Haberlova, Jana ; Castiglioni, Claudia ; Vissing, John ; Munell, Francina ; Rivier, François ; Stojkovic, Tanya ; Malfatti, Edoardo ; Gómez García de la Banda, Marta ; Tasca, Giorgio ; Costa Comellas, Laura ; Benezit, Audrey ; Amthor, Helge ; Dabaj, Ivana ; Gontijo Camelo, Clara ; Laforêt, Pascal ; Rendu, John ; Romero, Norma B. ; Cavassa, Eliana ; Fattori, Fabiana ; Beroud, Christophe ; Zídková, Jana ; Leboucq, Nicolas ; Løkken, Nicoline ; Sanchez-Montañez, Ángel ; Ortega, Ximena ; Kynčl, Martin ; Metay, Corinne ; Gómez-Andrés, David ; Carlier, Robert Y.
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Journal of neurology, 2022-05, Vol.269 (5), p.2414-2429
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Patterns of muscle involvement in Pompe disease: A whole-body MRI study
Author / Creator:Carlier, Robert Yves, MD ; Laforêt, Pascal, MD ; Mompoint, Dominique M., MD ; Wary, Claire, PhD ; Orlikowski, David, MD
Publisher:Bridgewater: EM Inc USA
Journal title:Clinical therapeutics, 2010, Vol.32, p.S42-S43
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Multidisciplinary team meetings in treatment of spinal muscular atrophy adult patients: a real-life observatory for innovative treatments
Author / Creator:Salort-Campana, Emmanuelle ; Solé, Guilhem ; Magot, Armelle ; Tard, Céline ; Noury, Jean-Baptiste ; Behin, Anthony ; De La Cruz, Elisa ; Boyer, François ; Lefeuvre, Claire ; Masingue, Marion ; Debergé, Louise ; Finet, Armelle ; Brison, Mélanie ; Spinazzi, Marco ; Pegat, Antoine ; Sacconi, Sabrina ; Malfatti, Edoardo ; Choumert, Ariane ; Bellance, Rémi ; Bedat-Millet, Anne-Laure ; Feasson, Léonard ; Vuillerot, Carole ; Jacquin-Piques, Agnès ; Michaud, Maud ; Pereon, Yann ; Stojkovic, Tanya ; Laforêt, Pascal ; Attarian, Shahram ; Cintas, Pascal
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2024-01, Vol.19 (1), p.24-13, Article 24
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A Randomized Study of Alglucosidase Alfa in Late-Onset Pompe's Disease
Author / Creator:van der Ploeg, Ans T ; Clemens, Paula R ; Corzo, Deyanira ; Escolar, Diana M ; Florence, Julaine ; Groeneveld, Geert Jan ; Herson, Serge ; Kishnani, Priya S ; Laforet, Pascal ; Lake, Stephen L ; Lange, Dale J ; Leshner, Robert T ; Mayhew, Jill E ; Morgan, Claire ; Nozaki, Kenkichi ; Park, Dorothy J ; Pestronk, Alan ; Rosenbloom, Barry ; Skrinar, Alison ; van Capelle, Carine I ; van der Beek, Nadine A ; Wasserstein, Melissa ; Zivkovic, Sasa A
Publisher:Waltham, MA: Massachusetts Medical Society
Journal title:The New England journal of medicine, 2010-04, Vol.362 (15), p.1396-1406
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European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A)
Author / Creator:Barp, Andrea ; Laforet, Pascal ; Bello, Luca ; Tasca, Giorgio ; Vissing, John ; Monforte, Mauro ; Ricci, Enzo ; Choumert, Ariane ; Stojkovic, Tanya ; Malfatti, Edoardo ; Pegoraro, Elena ; Semplicini, Claudio ; Stramare, Roberto ; Scheidegger, Olivier ; Haberlova, Jana ; Straub, Volker ; Marini-Bettolo, Chiara ; Løkken, Nicoline ; Diaz-Manera, Jordi ; Urtizberea, Jon A. ; Mercuri, Eugenio ; Kynčl, Martin ; Walter, Maggie C. ; Carlier, Robert Y.
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Journal of neurology, 2020-01, Vol.267 (1), p.45-56
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Congenital Nemaline Myopathy with Dense Protein Masses
Author / Creator:Bevilacqua, Jorge A ; Malfatti, Edoardo ; Labasse, Clémence ; Brochier, Guy ; Madelaine, Angeline ; Lacène, Emmanuelle ; Doray, Bérénice ; Laforêt, Pascal ; Eymard, Bruno ; Rendu, John ; Romero, Norma B
Publisher:England: Oxford University Press
Journal title:Journal of neuropathology and experimental neurology, 2022-04, Vol.81 (4), p.304-307
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Effect and impact of mechanical ventilation in myotonic dystrophy type 1: a prospective cohort study
Author / Creator:Boussaïd, Ghilas ; Prigent, Hélène ; Laforet, Pascal ; Raphaël, Jean-Claude ; Annane, Djillali ; Orlikowski, David ; Lofaso, Frédéric
Publisher:England: BMJ Publishing Group LTD
Journal title:Thorax, 2018-11, Vol.73 (11), p.1075-1078
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Identification of wheelchair seating criteria in adults with neuromuscular diseases: A Delphi study

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The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy

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Mutations in dynamin 2 cause dominant centronuclear myopathy

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Late-onset Pompe disease in France: molecular features and epidemiology from a nationwide study

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Cerebral vessel involvement in Pompe disease

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

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Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome

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

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Development of new outcome measures for adult SMA type III and IV: a multimodal longitudinal study

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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 the rare disease ec...

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

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French recommendations for the management of glycogen storage disease type III

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

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Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohort

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Patterns of muscle involvement in Pompe disease: A whole-body MRI study

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Multidisciplinary team meetings in treatment of spinal muscular atrophy adult patients: a real-life observatory for innovative treatments

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A Randomized Study of Alglucosidase Alfa in Late-Onset Pompe's Disease

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European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A)

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Congenital Nemaline Myopathy with Dense Protein Masses

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Effect and impact of mechanical ventilation in myotonic dystrophy type 1: a prospective cohort study

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