264 results on '"Laforet, Pascal"'
Search Results
2. Correction to: Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP‑mediated disease reveals characteristic features useful for diagnosis
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Esteller, Diana, Schiava, Marianela, Verdú-Díaz, José, Villar-Quiles, Rocío-Nur, Dibowski, Boris, Venturelli, Nadia, Laforet, Pascal, Alonso-Pérez, Jorge, Olive, Montse, Domínguez-González, Cristina, Paradas, Carmen, Vélez, Beatriz, Kostera-Pruszczyk, Anna, Kierdaszuk, Biruta, Rodolico, Carmelo, Claeys, Kristl, Pál, Endre, Malfatti, Edoardo, Souvannanorath, Sarah, Alonso-Jiménez, Alicia, de Ridder, Willem, De Smet, Eline, Papadimas, George, Papadopoulos, Constantinos, Xirou, Sofia, Luo, Sushan, Muelas, Nuria, Vilchez, Juan J., Ramos-Fransi, Alba, Monforte, Mauro, Tasca, Giorgio, Udd, Bjarne, Palmio, Johanna, Sri, Srtuhi, Krause, Sabine, Schoser, Benedikt, Fernández-Torrón, Roberto, López de Munain, Adolfo, Pegoraro, Elena, Farrugia, Maria Elena, Vorgerd, Mathias, Manousakis, Georgious, Chanson, Jean Baptiste, Nadaj-Pakleza, Aleksandra, Cetin, Hakan, Badrising, Umesh, Warman-Chardon, Jodi, Bevilacqua, Jorge, Earle, Nicholas, Campero, Mario, Díaz, Jorge, Ikenaga, Chiseko, Lloyd, Thomas E., Nishino, Ichizo, Nishimori, Yukako, Saito, Yoshihiko, Oya, Yasushi, Takahashi, Yoshiaki, Nishikawa, Atsuko, Sasaki, Ryo, Marini-Bettolo, Chiara, Guglieri, Michela, Straub, Volker, Stojkovic, Tanya, Carlier, Robert Y., and Díaz-Manera, Jordi
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- 2024
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3. Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis
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Esteller, Diana, Schiava, Marianela, Verdú-Díaz, José, Villar-Quiles, Rocío-Nur, Dibowski, Boris, Venturelli, Nadia, Laforet, Pascal, Alonso-Pérez, Jorge, Olive, Montse, Domínguez-González, Cristina, Paradas, Carmen, Vélez, Beatriz, Kostera-Pruszczyk, Anna, Kierdaszuk, Biruta, Rodolico, Carmelo, Claeys, Kristl, Pál, Endre, Malfatti, Edoardo, Souvannanorath, Sarah, Alonso-Jiménez, Alicia, de Ridder, Willem, De Smet, Eline, Papadimas, George, Papadopoulos, Constantinos, Xirou, Sofia, Luo, Sushan, Muelas, Nuria, Vilchez, Juan J., Ramos-Fransi, Alba, Monforte, Mauro, Tasca, Giorgio, Udd, Bjarne, Palmio, Johanna, Sri, Srtuhi, Krause, Sabine, Schoser, Benedikt, Fernández-Torrón, Roberto, López de Munain, Adolfo, Pegoraro, Elena, Farrugia, Maria Elena, Vorgerd, Mathias, Manousakis, Georgious, Chanson, Jean Baptiste, Nadaj-Pakleza, Aleksandra, Cetin, Hakan, Badrising, Umesh, Warman-Chardon, Jodi, Bevilacqua, Jorge, Earle, Nicholas, Campero, Mario, Díaz, Jorge, Ikenaga, Chiseko, Lloyd, Thomas E., Nishino, Ichizo, Nishimori, Yukako, Saito, Yoshihiko, Oya, Yasushi, Takahashi, Yoshiaki, Nishikawa, Atsuko, Sasaki, Ryo, Marini-Bettolo, Chiara, Guglieri, Michela, Straub, Volker, Stojkovic, Tanya, Carlier, Robert Y., and Díaz-Manera, Jordi
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- 2023
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4. Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study.
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Schiava, Marianela, Ikenaga, Chiseko, Villar-Quiles, Rocío, Caballero-Ávila, Marta, Topf, Ana, Nishino, Ichizo, Kimonis, Virginia, Udd, Bjarne, Schoser, Benedikt, Zanoteli, Edmar, Souza, Paulo, Tasca, Giorgio, Lloyd, Thomas, Lopez-de Munain, Adolfo, Paradas, Carmen, Pegoraro, Elena, Nadaj-Pakleza, Aleksandra, De Bleecker, Jan, Badrising, Umesh, Alonso-Jiménez, Alicia, Kostera-Pruszczyk, Anna, Miralles, Francesc, Shin, Jin-Hong, Bevilacqua, Jorge, Olivé, Montse, Vorgerd, Matthias, Kley, Rudi, Brady, Stefen, Williams, Timothy, Domínguez-González, Cristina, Papadimas, George, Warman-Chardon, Jodi, Claeys, Kristl, de Visser, Marianne, Muelas, Nuria, LaForet, Pascal, Malfatti, Edoardo, Alfano, Lindsay, Nair, Sruthi, Manousakis, Georgios, Kushlaf, Hani, Harms, Matthew, Nance, Christopher, Ramos-Fransi, Alba, Rodolico, Carmelo, Hewamadduma, Channa, Cetin, Hakan, García-García, Jorge, Pál, Endre, Farrugia, Maria, Lamont, Phillipa, Quinn, Colin, Nedkova-Hristova, Velina, Peric, Stojan, Luo, Sushan, Oldfors, Anders, Taylor, Kate, Ralston, Stuart, Stojkovic, Tanya, Weihl, Conrad, and Diaz-Manera, Jordi
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FRONTOTEMPORAL DEMENTIA ,GENETICS ,INCL BODY MYOSITIS ,MUSCLE DISEASE ,MYOPATHY - Abstract
BACKGROUND: Valosin-containing protein (VCP) disease, caused by mutations in the VCP gene, results in myopathy, Pagets disease of bone (PBD) and frontotemporal dementia (FTD). Natural history and genotype-phenotype correlation data are limited. This study characterises patients with mutations in VCP gene and investigates genotype-phenotype correlations. METHODS: Descriptive retrospective international study collecting clinical and genetic data of patients with mutations in the VCP gene. RESULTS: Two hundred and fifty-five patients (70.0% males) were included in the study. Mean age was 56.8±9.6 years and mean age of onset 45.6±9.3 years. Mean diagnostic delay was 7.7±6 years. Symmetric lower limb weakness was reported in 50% at onset progressing to generalised muscle weakness. Other common symptoms were ventilatory insufficiency 40.3%, PDB 28.2%, dysautonomia 21.4% and FTD 14.3%. Fifty-seven genetic variants were identified, 18 of these no previously reported. c.464G>A (p.Arg155His) was the most frequent variant, identified in the 28%. Full time wheelchair users accounted for 19.1% with a median time from disease onset to been wheelchair user of 8.5 years. Variant c.463C>T (p.Arg155Cys) showed an earlier onset (37.8±7.6 year) and a higher frequency of axial and upper limb weakness, scapular winging and cognitive impairment. Forced vital capacity (FVC) below 50% was as risk factor for being full-time wheelchair user, while FVC
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- 2022
5. Characterization of neuromuscular performances in adults with late-onset Pompe disease: A control case cross-sectional study
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Maulet, Théo, Bonnyaud, Céline, Laforêt, Pascal, and Cattagni, Thomas
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- 2023
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6. Hypersensitivity infusion-associated reactions induced by enzyme replacement therapy in a cohort of patients with late-onset Pompe disease: An experience from the French Pompe Registry
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Lessard, Lola E.R., Tard, Céline, Salort-Campana, Emmanuelle, Sacconi, Sabrina, Béhin, Anthony, Bassez, Guillaume, Orlikowski, David, Merle, Philippe, Nollet, Sylvain, Gallay, Laure, Bérard, Frédéric, Robinson, Philip, Bouhour, Françoise, and Laforêt, Pascal
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- 2023
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7. The Glycogen Storage Diseases Glycogen storage diseases and Related Disorders
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Walter, John H., Labrune, Philippe, Laforêt, Pascal, Saudubray, Jean-Marie, editor, Baumgartner, Matthias R., editor, García-Cazorla, Ángeles, editor, and Walter, John, editor
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- 2022
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8. Cardiac Outcomes in Adults With Mitochondrial Diseases
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Savvatis, Konstantinos, Vissing, Christoffer Rasmus, Klouvi, Lori, Florian, Anca, Rahman, Mehjabin, Béhin, Anthony, Fayssoil, Abdallah, Masingue, Marion, Stojkovic, Tanya, Bécane, Henri Marc, Berber, Nawal, Mochel, Fanny, Duboc, Denis, Fontaine, Bertrand, Krett, Bjørg, Stalens, Caroline, Lejeune, Julie, Pitceathly, Robert D.S., Lopes, Luis, Saadi, Malika, Gossios, Thomas, Procaccio, Vincent, Spinazzi, Marco, Tard, Céline, De Groote, Pascal, Dhaenens, Claire-Marie, Douillard, Claire, Echaniz-Laguna, Andoni, Quinlivan, Ros, Hanna, Michael G., Yilmaz, Ali, Vissing, John, Laforêt, Pascal, Elliott, Perry, and Wahbi, Karim
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- 2022
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9. No effect of triheptanoin in patients with phosphofructokinase deficiency
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Raaschou-Pedersen, Daniel Emil, Madsen, Karen Lindhardt, Løkken, Nicoline, Storgaard, Jesper Helbo, Quinlivan, Ros, Laforêt, Pascal, Lund, Allan, Van Hall, Gerrit, Vissing, John, and Ørngreen, Mette
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- 2022
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10. Whole-body muscle MRI in McArdle disease
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Tobaly, David, Laforêt, Pascal, Stojkovic, Tanya, Behin, Anthony, Petit, Francois Michael, Barp, Andrea, Bello, Luca, Carlier, Pierre, and Carlier, Robert-Yves
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- 2022
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11. Start, switch and stop (triple‐S) criteria for enzyme replacement therapy of late‐onset Pompe disease: European Pompe Consortium recommendation update 2024.
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Schoser, Benedikt, van der Beek, Nadine A. M. E., Broomfield, Alexander, Brusse, Esther, Diaz‐Manera, Jordi, Hahn, Andreas, Hundsberger, Thomas, Kornblum, Cornelia, Kruijshaar, Michelle, Laforet, Pascal, Mengel, Eugen, Mongini, Tiziana, Orlikowski, David, Parenti, Giancarlo, Pijnappel, W. W. M. Pim, Roberts, Mark, Scherer, Thomas, Toscano, Antonio, Vissing, John, and van den Hout, Johanna M. P.
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Background and purpose: Two novel enzyme replacement therapies (ERTs), studied in phase 3 trials in late‐onset Pompe patients, reached marketing authorization by the European Medicines Agency in 2022 and 2023. The European Pompe Consortium (EPOC) updates and extends the scope of the 2017 recommendations for starting, switching and stopping ERT. Methods: The European Pompe Consortium consists of 25 neuromuscular and metabolic experts from eight European countries. This update was performed after an in‐person meeting, three rounds of discussion and voting to provide a consensus recommendation. Results: The patient should be symptomatic, that is, should have skeletal muscle weakness or respiratory muscle involvement. Muscle magnetic resonance imaging findings showing substantial fat replacement can support the decision to start in a patient‐by‐patient scenario. Limited evidence supports switching ERT if there is no indication that skeletal muscle and/or respiratory function have stabilized or improved during standard ERT of 12 months or after severe infusion‐associated reactions. Switching of ERT should be discussed on a patient‐by‐patient shared‐decision basis. If there are severe, unmanageable infusion‐associated reactions and no stabilization in skeletal muscle function during the first 2 years after starting or switching treatment, stopping ERT should be considered. After stopping ERT for inefficacy, restarting ERT can be considered. Six‐monthly European Pompe Consortium muscle function assessments are recommended. Conclusions: The triple‐S criteria on ERT start, switch and stop include muscle magnetic resonance imaging as a supportive finding and the potential option of home infusion therapy. Six‐monthly long‐term monitoring of muscle function is highly recommended to cover insights into the patient's trajectory under ERT. [ABSTRACT FROM AUTHOR]
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- 2024
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12. A study on the safety and efficacy of reveglucosidase alfa in patients with late-onset Pompe disease
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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, and on behalf of the POM-001/002 Investigators
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Biomedical and Clinical Sciences ,Clinical Sciences ,Chronic Liver Disease and Cirrhosis ,Rare Diseases ,Liver Disease ,Lung ,Clinical Research ,Digestive Diseases ,6.1 Pharmaceuticals ,Evaluation of treatments and therapeutic interventions ,Adult ,Enzyme Replacement Therapy ,Female ,Glycogen Storage Disease Type II ,Humans ,Male ,Middle Aged ,Muscle ,Skeletal ,alpha-Glucosidases ,Reveglucosidase alfa ,Late-onset Pompe disease ,Enzyme replacement therapy ,Pharmacokinetics ,Safety ,Efficacy ,Respiratory ,Pulmonary ,POM-001/002 Investigators ,Other Medical and Health Sciences ,Genetics & Heredity ,Genetics ,Clinical sciences - Abstract
BackgroundLate-onset Pompe disease is a rare genetic neuromuscular disorder caused by lysosomal acid alpha-glucosidase (GAA) deficiency that ultimately results in mobility loss and respiratory failure. Current enzyme replacement therapy with recombinant human (rh)GAA has demonstrated efficacy in subjects with late-onset Pompe disease. However, long-term effects of rhGAA on pulmonary function have not been observed, likely related to inefficient delivery of rhGAA to skeletal muscle lysosomes and associated deficits in the central nervous system. To address this limitation, reveglucosidase alfa, a novel insulin-like growth factor 2 (IGF2)-tagged GAA analogue with improved lysosomal uptake, was developed. This study evaluated the pharmacokinetics, safety, and exploratory efficacy of reveglucosidase alfa in 22 subjects with late-onset Pompe disease who were previously untreated with rhGAA.ResultsReveglucosidase alfa plasma concentrations increased linearly with dose, and the elimination half-life was
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- 2017
13. Clinical practice guidelines for glycogen storage disease V & VII (McArdle disease and Tarui disease) from an international study group
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Bali, Deeksha, Godfrey, Richard, Haller, Ronald, Kishnani, Priya, Laforêt, Pascal, Løkken, Nicoline, Musumeci, Olimpia, Santalla, Alfredo, Tarnopolsky, Mark, Toscano, Antonio, Vissing, John, Voermans, Nicol, Wakelin, Andrew, Lucia, Alejandro, Martinuzzi, Andrea, Nogales-Gadea, Gisela, Quinlivan, Ros, and Reason, Stacey
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- 2021
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14. Safety and efficacy of cipaglucosidase alfa plus miglustat versus alglucosidase alfa plus placebo in late-onset Pompe disease (PROPEL): an international, randomised, double-blind, parallel-group, phase 3 trial
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Sebok, Agnes, Pestronk, Alan, Dominovic-Kovacevic, Aleksandra, Khan, Aneal, Koritnik, Blaž, Tard, Celine, Lindberg, Christopher, Quinn, Colin, Kornblum, Cornelia, Eldridge, Crystal, Bodkin, Cynthia, Reyes-Leiva, David, Hughes, Derralynn, Stefanescu, Ela, SALORT-CAMPANA, Emmanuelle, Butler, Ernest, Bouhour, Francoise, Kim, Gee, Konstantinos Papadimas, George, Parenti, Giancarlo, Bartosik-Psujek, Halina, Kushlaf, Hani, Akihiro, Hashiguchi, Lau, Heather, Pedro, Helio, Andersen, Henning, Amartino, Hernan, Shiraishi, Hideaki, Kobayashi, Hiroshi, Tarnev, Ivaylo, Vengoechea, Jaime, Avelar, Jennifer, Shin, Jin-Hong, Cauci, Jonathan, Alonso-Pérez, Jorge, Janszky, Jozsef, Berthy, Julie, Gutschmidt, Kristina, Claeys, Kristl, Judit Molnar, Maria, Wencel, Marie, Tarnopolsky, Mark, Dimachkie, Mazen, Tchan, Michel, Freimer, Miriam, Longo, Nicola, Vidal-Fernandez, Nuria, Musumeci, Olimpia, Goker-Alpan, Ozlem, Deegan, Patrick, Clemens, Paula R., Roxburgh, Richard, Henderson, Robert, Hopkin, Robert, Sacconi, Sabrina, Fecarotta, Simona, Attarian, Shahram, Wenninger, Stephan, Dearmey, Stephanie, Hiwot, Tarekegn, Burrow, Thomas, Ruck, Tobias, Sawada, Tomo, Laszlo, Vescei, Löscher, Wolfgang, Chien, Yin-Hsiu, Schoser, Benedikt, Roberts, Mark, Byrne, Barry J, Sitaraman, Sheela, Jiang, Hai, Laforêt, Pascal, Toscano, Antonio, Castelli, Jeff, Díaz-Manera, Jordi, Goldman, Mitchell, van der Ploeg, Ans T, Bratkovic, Drago, Kuchipudi, Srilakshmi, Mozaffar, Tahseen, and Kishnani, Priya S
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- 2021
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15. Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial
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Behin, Anthony, Boentert, Matthias, Carvalho, Gerson, Chahin, Nizar, Charrow, Joel, Deegan, Patrick, Durmus Tekce, Hacer, Duval, Fanny, Genge, Angela, Gutmann, Ludwig, Henderson, Robert D, Hennermann, Julia B, Hiwot, Tarekegn, Hughes, Derralynn, Karaa, Amel, Karam, Chafic, Kautzky-Willer, Alexandra, Komaki, Hirofumi, Laforet, Pascal, Longo, Nicola, Malinova, Vera, Maré, Ricardo, Maxit, Clarisa, Mengel, Eugen, Moggio, Maurizio Gualtiero, Molnár, Mária Judit, Mongini, Tiziana Enrica, Nadaj-Pakleza, Aleksandra, Nascimento Osorio, Andres, Noury, Jean-Baptiste, Oliveira, Acary Souza Bulle, Parman, Yesim, Pena, Loren, Remiche, Gauthier, Sciacco, Monica, Shieh, Perry B, Smith, Cheryl, Stulnig, Thomas, Taithe, Frederic, Tard, Céline, Tarnopolsky, Mark, Vorgerd, Matthias, Whitley, Chester, Young, Peter, Alonso-Pérez, Jorge, Altemus, Patricia, Aubé-Nathier, Anne-Catherine, Avelar, Jennifer B, Bailey, Carrie, Bekircan-Kurt, Can Ebru, Billy, Jenny, Boschi, Silvia, Brown, Kathryn E, Carrera Garcia, Laura, Chase, Lauren, Cirne, Hamilton, Danjoux, Loïc, Davion, Jean-Baptiste, DeArmey, Stephanie, Fedotova, Ekaterina, Gandolfo, Eve, Grosz, Zoltan, Guellec, Dewi, Guettsches, Anne-Katrin, Guglieri, Michela, Hatcher, Erin, Helms, Sina, Hufgard-Leitner, Miriam, Klyushnikov, Sergey A., Langton, Jacqui, Linková, Lenka, Mavroudakis, Nicolas, Mazurová, Stella, Mori, Madoka, Müller-Miny, Louisa, Musumeci, Olimpia, Nance, Christopher S, Natera-de Benito, Daniel, Neel, Robert, Niizawa, Gabriela A, Noll, Lauren, Ortega, Erik, Pasnoor, Mamatha, Pautot, Vivien, Potulska-Chromik, Anna, Pugliese, Alessia, Questienne, Claire, Ramos Lopes, Margarida, Reyes-Leiva, David, Riedl, Michaela, Rugiero, Marcelo Francisco, Salort-Campana, Emmanuelle, Sgobbi Souza, Paulo Victor, Sole, Guilhem, Solera, Luca, Souto Lopes, Suzara, Specht, Sabine, Statland, Jeffrey, Swenson, Andrea, Tan, Chong Yew, Tizon, Sónia, van der Beek, N A M E, van Kooten, Harmke A., Wencel, Marie, Wenninger, Stephan, Zagnoli, Fabien, Diaz-Manera, Jordi, Kishnani, Priya S, Kushlaf, Hani, Ladha, Shafeeq, Mozaffar, Tahseen, Straub, Volker, Toscano, Antonio, van der Ploeg, Ans T, Berger, Kenneth I, Clemens, Paula R, Chien, Yin-Hsiu, Day, John W, Illarioshkin, Sergey, Roberts, Mark, Attarian, Shahram, Borges, Joao Lindolfo, Bouhour, Francoise, Choi, Young Chul, Erdem-Ozdamar, Sevim, Goker-Alpan, Ozlem, Kostera-Pruszczyk, Anna, Haack, Kristina An, Hug, Christopher, Huynh-Ba, Olivier, Johnson, Judith, Thibault, Nathan, Zhou, Tianyue, Dimachkie, Mazen M, and Schoser, Benedikt
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- 2021
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16. A Caribbean case of phosphoglycerate mutase deficiency: Relevance of forearm exercise test and electroneuromyography with long exercise test in the diagnosis strategy of rare muscle glycogenosis
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Sarrazin, Elisabeth, primary, Laforet, Pascal, additional, Tournier, Simon, additional, Hebert, Jean-Christophe, additional, Froissart, Roseline, additional, Nicolas, Guillaume, additional, Carlier, Robert-Yves, additional, Bellance, Rémi, additional, and Giguet-Valard, Anna-Gaëlle, additional
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- 2024
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17. Home-based exercise in autoimmune myasthenia gravis: A randomized controlled trial
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Azerad, Sylvie, Bassez, Guillaume, Behin, Anthony, Berrih-Aknin, Sonia, Bolgert, Francis, Ait-Younes, Nawal Derridj, Domingo, Yasmine, Frenkian, Mélinée, Friedman, Diane, Jobic, Asmaa, Laforêt, Pascal, Ledoux, Isabelle, Mendelson, Judith, Misdrahi, Sandra, Orblin Bedos, Cécilia, Rohaut, Benjamin, Ropers, Jacques, Soler, Elodie, Thoumie, Philippe, Truffault, Frédérique, Weiss, Nicolas, William, Linda, Birnbaum, S, Porcher, R, Portero, P, Clair, B, Demeret, S, Eymard, B, Gargiulo, M, Louët, E, Berrih-Aknin, S, Le Panse, R, Aegerter, P, Hogrel, JY, and Sharshar, T
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- 2021
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18. Sirolimus for treatment of patients with inclusion body myositis: a randomised, double-blind, placebo-controlled, proof-of-concept, phase 2b trial
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Benveniste, Olivier, Hogrel, Jean-Yves, Belin, Lisa, Annoussamy, Mélanie, Bachasson, Damien, Rigolet, Aude, Laforet, Pascal, Dzangué-Tchoupou, Gaëlle, Salem, Joe-Elie, Nguyen, Lee S, Stojkovic, Tanya, Zahr, Noel, Hervier, Baptiste, Landon-Cardinal, Océane, Behin, Anthony, Guilloux, Edith, Reyngoudt, Harmen, Amelin, Damien, Uruha, Akinori, Mariampillai, Kuberaka, Marty, Benjamin, Eymard, Bruno, Hulot, Jean-Sébastien, Greenberg, Steven A, Carlier, Pierre G, and Allenbach, Yves
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- 2021
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19. Duvoglustat HCl Increases Systemic and Tissue Exposure of Active Acid α-Glucosidase in Pompe Patients Co-administered with Alglucosidase α
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Kishnani, Priya, Tarnopolsky, Mark, Roberts, Mark, Sivakumar, Kumarswamy, Dasouki, Majed, Dimachkie, Mazen M, Finanger, Erika, Goker-Alpan, Ozlem, Guter, Karl A, Mozaffar, Tahseen, Pervaiz, Muhammad Ali, Laforet, Pascal, Levine, Todd, Adera, Matthews, Lazauskas, Richard, Sitaraman, Sheela, Khanna, Richie, Benjamin, Elfrida, Feng, Jessie, Flanagan, John J, Barth, Jay, Barlow, Carrolee, Lockhart, David J, Valenzano, Kenneth J, Boudes, Pol, Johnson, Franklin K, and Byrne, Barry
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Pharmacology and Pharmaceutical Sciences ,Biomedical and Clinical Sciences ,Rare Diseases ,Chronic Liver Disease and Cirrhosis ,Digestive Diseases ,Liver Disease ,5.1 Pharmaceuticals ,6.1 Pharmaceuticals ,Evaluation of treatments and therapeutic interventions ,Development of treatments and therapeutic interventions ,1-Deoxynojirimycin ,Administration ,Oral ,Adult ,Drug Administration Schedule ,Drug Synergism ,Drug Therapy ,Combination ,Enzyme Replacement Therapy ,Female ,Glycogen Storage Disease Type II ,Humans ,Infusions ,Intravenous ,Lysosomes ,Male ,Middle Aged ,Muscle ,Skeletal ,Patient Safety ,Treatment Outcome ,alpha-Glucosidases ,Pompe disease ,enzyme replacement therapy ,pharmacokinetics ,pharmacological chaperone ,Biological Sciences ,Technology ,Medical and Health Sciences ,Biotechnology ,Genetics ,Clinical sciences ,Medical biotechnology - Abstract
Duvoglustat HCl (AT2220, 1-deoxynojirimycin) is an investigational pharmacological chaperone for the treatment of acid α-glucosidase (GAA) deficiency, which leads to the lysosomal storage disorder Pompe disease, which is characterized by progressive accumulation of lysosomal glycogen primarily in heart and skeletal muscles. The current standard of care is enzyme replacement therapy with recombinant human GAA (alglucosidase alfa [AA], Genzyme). Based on preclinical data, oral co-administration of duvoglustat HCl with AA increases exposure of active levels in plasma and skeletal muscles, leading to greater substrate reduction in muscle. This phase 2a study consisted of an open-label, fixed-treatment sequence that evaluated the effect of single oral doses of 50 mg, 100 mg, 250 mg, or 600 mg duvoglustat HCl on the pharmacokinetics and tissue levels of intravenously infused AA (20 mg/kg) in Pompe patients. AA alone resulted in increases in total GAA activity and protein in plasma compared to baseline. Following co-administration with duvoglustat HCl, total GAA activity and protein in plasma were further increased 1.2- to 2.8-fold compared to AA alone in all 25 Pompe patients; importantly, muscle GAA activity was increased for all co-administration treatments from day 3 biopsy specimens. No duvoglustat-related adverse events or drug-related tolerability issues were identified.
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- 2017
20. European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A)
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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., and Carlier, Robert Y.
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- 2020
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21. The motor unit number index (MUNIX) profile of patients with adult spinal muscular atrophy
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Querin, Giorgia, Lenglet, Timothée, Debs, Rabab, Stojkovic, Tanya, Behin, Anthony, Salachas, François, Le Forestier, Nadine, Amador, Maria del Mar, Lacomblez, Lucette, Meininger, Vincent, Bruneteau, Gaelle, Laforêt, Pascal, Blancho, Sophie, Marchand-Pauvert, Véronique, Bede, Peter, Hogrel, Jean-Yves, and Pradat, Pierre-François
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- 2018
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22. Determinants and Characterization of Locomotion in Adults with Late-Onset Pompe Disease: New Clinical Biomarkers
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Maulet, Théo, primary, Cattagni, Thomas, additional, Dubois, Fabien, additional, Roche, Nicolas, additional, Laforet, Pascal, additional, and Bonnyaud, Céline, additional
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- 2023
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23. Prognosis of Right Ventricular Systolic Dysfunction in Patients With Duchenne Muscular Dystrophy
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Fayssoil, Abdallah, primary, Mansencal, Nicolas, additional, Nguyen, Lee S., additional, Nardi, Olivier, additional, Yaou, Rabah Ben, additional, Leturcq, France, additional, Amthor, Helge, additional, Wahbi, Karim, additional, Becane, Henri Marc, additional, Lofaso, Frederic, additional, Prigent, Helene, additional, Bassez, Guillaume, additional, Behin, Anthony, additional, Stojkovic, Tanya, additional, Fontaine, Bertrand, additional, Duboc, Denis, additional, Dubourg, Olivier, additional, Clair, Bernard, additional, Laforet, Pascal, additional, Annane, Djillali, additional, and Orlikowski, David, additional
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- 2023
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24. Effects of Home Mechanical Ventilation on Left Ventricular Function in Sarcoglycanopathies (Limb Girdle Muscular Dystrophies)
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Fayssoil, Abdallah, Nguyen, Lee S., Ogna, Adam, Meng, Paris, Nardi, Olivier, Laforet, Pascal, Clair, Bernard, Prigent, Helene, Lofaso, Frederic, Leturcq, France, Yaou, Rabah Ben, Annane, Djillali, and Orlikowski, David
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- 2018
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25. Congenital myopathies are mainly associated with a mild cardiac phenotype
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Petri, Helle, Wahbi, Karim, Witting, Nanna, Køber, Lars, Bundgaard, Henning, Kamoun, Emna, Vellieux, Geoffroy, Stojkovic, Tanya, Béhin, Anthony, Laforet, Pascal, and Vissing, John
- Published
- 2019
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26. Muscular MRI-based algorithm to differentiate inherited myopathies presenting with spinal rigidity
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Tordjman, Mickael, Dabaj, Ivana, Laforet, Pascal, Felter, Adrien, Ferreiro, Ana, Biyoukar, Moustafa, Law-Ye, Bruno, Zanoteli, Edmar, Castiglioni, Claudia, Rendu, John, Beroud, Christophe, Chamouni, Alexandre, Richard, Pascale, Mompoint, Dominique, Quijano-Roy, Susana, and Carlier, Robert-Yves
- Published
- 2018
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27. Impact of loss of ambulation on right ventricular size in patients with neuromuscular disorders
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Fayssoil, Abdallah, primary, Mansencal, Nicolas, additional, Wahbi, Karim, additional, Masingue, Marion, additional, Laforet, Pascal, additional, Lofaso, Frederic, additional, Orlikowski, David, additional, and Stojkovic, Tanya, additional
- Published
- 2023
- Full Text
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28. Identifying Digital Biomarkers for the Self-Monitoring of Patients Living with Generalized Myasthenia gravis: a Proof of Concept (P7-8.007)
- Author
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Laforet, Pascal, primary, Orlikowski, David, additional, Nicolas, Guillaume, additional, Prigent, Hélène, additional, Berling, Edouard, additional, N’Dah-Sekou, Ghislain, additional, Gorin, Clarissa, additional, Moreira, Ana Júlia, additional, Narcy, Juliette, additional, Plaud, Angéline, additional, Cuq, Emma Touré, additional, Keller, Martin, additional, Werneburg, Brian, additional, Aras, Emrah, additional, and Benatar, Michael, additional
- Published
- 2023
- Full Text
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29. The Glycogen Storage Diseases and Related Disorders
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Walter, John, Labrune, Philippe A., Laforet, Pascal, Saudubray, Jean-Marie, editor, Baumgartner, Matthias R., editor, and Walter, John, editor
- Published
- 2016
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30. Resistant myasthenia gravis and rituximab: A monocentric retrospective study of 28 patients
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Afanasiev, Vadim, Demeret, Sophie, Bolgert, Francis, Eymard, Bruno, Laforêt, Pascal, and Benveniste, Olivier
- Published
- 2017
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31. Late Onset Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) Myopathy Misdiagnosed as Polymyositis
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Barp, Andrea, Bellance, Rémi, Malfatti, Edoardo, Rigal, Odile, Acquaviva-Bourdain, Cécile, and Laforet, Pascal
- Published
- 2020
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32. FSHD1 and FSHD2 form a disease continuum
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Sacconi, Sabrina, Briand-Suleau, Audrey, Gros, Marilyn, Baudoin, Christian, Lemmers, Richard J.L.F., Rondeau, Sophie, Lagha, Nadira, Nigumann, Pilvi, Cambieri, Chiara, Puma, Angela, Chapon, Françoise, Stojkovic, Tanya, Vial, Christophe, Bouhour, Françoise, Cao, Michelangelo, Pegoraro, Elena, Petiot, Philippe, Behin, Anthony, Marc, Bras, Eymard, Bruno, Echaniz-Laguna, Andoni, Laforet, Pascal, Salviati, Leonardo, Jeanpierre, Marc, Cristofari, Gaël, and van der Maarel, Silvère M.
- Published
- 2019
- Full Text
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33. Cross-sectional retrospective study of muscle function in patients with glycogen storage disease type III
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Decostre, Valérie, Laforêt, Pascal, Nadaj-Pakleza, Aleksandra, De Antonio, Marie, Leveugle, Sylvain, Ollivier, Gwenn, Canal, Aurélie, Kachetel, Kahina, Petit, François, Eymard, Bruno, Behin, Anthony, Wahbi, Karim, Labrune, Philippe, and Hogrel, Jean-Yves
- Published
- 2016
- Full Text
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34. Atrial flutter in myotonic dystrophy type 1: Patient characteristics and clinical outcome
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Wahbi, Karim, Sebag, Frederic A., Lellouche, Nicolas, Lazarus, Arnaud, Bécane, Henri-Marc, Bassez, Guillaume, Stojkovic, Tanya, Fayssoil, Abdallah, Laforêt, Pascal, Béhin, Anthony, Meune, Christophe, Eymard, Bruno, and Duboc, Denis
- Published
- 2016
- Full Text
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35. Dermatomyositis With or Without Anti-Melanoma Differentiation-Associated Gene 5 Antibodies: Common Interferon Signature but Distinct NOS2 Expression
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Hot, Arnaud, Grados, Aurélie, Schleinitz, Nicolas, Gallet, Laure, Streichenberger, Nathalie, Petiot, Philippe, Hachulla, Eric, Launay, David, Devilliers, Hervé, Hamidou, Mohamed, Cornec, Divy, Bienvenu, Boris, Langlois, Vincent, Levesque, Hervé, Delluc, Aurélien, Drouot, Laurent, Charuel, Jean-Luc, Jouen, Fabienne, Romero, Norma, Dubourg, Odile, Leonard-Louis, Sarah, Behin, Anthony, Laforet, Pascal, Stojkovic, Tania, Eymard, Bruno, Costedoat-Chalumeau, Nathalie, Campana-Salort, Emmanuelle, Tournadre, Anne, Musset, Lucile, Bader-Meunier, Brigitte, Kone-Paut, Isabelle, Sibilia, Jean, Servais, Laurent, Fain, Olivier, Larroche, Claire, Diot, Elizabeth, Terrier, Benjamin, De Paz, Raphaël, Dossier, Antoine, Menard, Dominique, Morati, Chafika, Roux, Marielle, Ferrer, Xavier, Martinet, Jeremy, Besnard, Sophie, Bellance, Rémi, Cacoub, Patrice, Saadoun, David, Arnaud, Laurent, Grosbois, Bernard, Herson, Serge, Boyer, Olivier, Allenbach, Yves, Leroux, Gaëlle, Suárez-Calvet, Xavier, Preusse, Corinna, Gallardo, Eduard, Hervier, Baptiste, Rigolet, Aude, Hie, Miguel, Pehl, Debora, Limal, Nicolas, Hufnagl, Peter, Zerbe, Norman, Meyer, Alain, Aouizerate, Jessie, Uzunhan, Yurdagul, Maisonobe, Thierry, Goebel, Hans-Hilmar, Benveniste, Olivier, and Stenzel, Werner
- Published
- 2016
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36. Clinical heterogeneity and phenotype/genotype findings in 5 families with GYG1 deficiency
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Ben Yaou, Rabah, Hubert, Aurélie, Nelson, Isabelle, Dahlqvist, Julia R., Gaist, David, Streichenberger, Nathalie, Beuvin, Maud, Krahn, Martin, Petiot, Philippe, Parisot, Frédéric, Michel, Fabrice, Malfatti, Edoardo, Romero, Norma, Carlier, Robert Yves, Eymard, Bruno, Labrune, Philippe, Duno, Morten, Krag, Thomas, Cerino, Mathieu, Bartoli, Marc, Bonne, Gisèle, Vissing, John, Laforet, Pascal, and Petit, François M.
- Published
- 2017
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37. Rescue of Pompe disease in mice by AAV-mediated liver delivery of secretable acid α-glucosidase
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Puzzo, Francesco, Colella, Pasqualina, Biferi, Maria G., Bali, Deeksha, Paulk, Nicole K., Vidal, Patrice, Collaud, Fanny, Simon-Sola, Marcelo, Charles, Severine, Hardet, Romain, Leborgne, Christian, Meliani, Amine, Cohen-Tannoudji, Mathilde, Astord, Stephanie, Gjata, Bernard, Sellier, Pauline, van Wittenberghe, Laetitia, Vignaud, Alban, Boisgerault, Florence, Barkats, Martine, Laforet, Pascal, Kay, Mark A., Koeberl, Dwight D., Ronzitti, Giuseppe, and Mingozzi, Federico
- Published
- 2017
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38. Urgences musculaires dans les myopathies métaboliques: la rhabdomyolyse
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Chabrol, Brigitte, Laforêt, Pascal, Levraut, Jacques, and Vianey-Saban, Christine
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- 2015
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39. 208th ENMC International Workshop: Formation of a European Network to develop a European data sharing model and treatment guidelines for Pompe disease Naarden, The Netherlands, 26–28 September 2014
- Author
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Schoser, Benedikt, Laforêt, Pascal, Kruijshaar, Michelle E., Toscano, Antonio, van Doorn, Pieter A., and van der Ploeg, Ans T.
- Published
- 2015
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40. Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues
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Biancalana, Valérie, Scheidecker, Sophie, Miguet, Marguerite, Laquerrière, Annie, Romero, Norma B., Stojkovic, Tanya, Abath Neto, Osorio, Mercier, Sandra, Voermans, Nicol, Tanner, Laura, Rogers, Curtis, Ollagnon-Roman, Elisabeth, Roper, Helen, Boutte, Célia, Ben-Shachar, Shay, Lornage, Xavière, Vasli, Nasim, Schaefer, Elise, Laforet, Pascal, Pouget, Jean, Moerman, Alexandre, Pasquier, Laurent, Marcorelle, Pascale, Magot, Armelle, Küsters, Benno, Streichenberger, Nathalie, Tranchant, Christine, Dondaine, Nicolas, Schneider, Raphael, Gasnier, Claire, Calmels, Nadège, Kremer, Valérie, Nguyen, Karine, Perrier, Julie, Kamsteeg, Erik Jan, Carlier, Pierre, Carlier, Robert-Yves, Thompson, Julie, Boland, Anne, Deleuze, Jean-François, Fardeau, Michel, Zanoteli, Edmar, Eymard, Bruno, and Laporte, Jocelyn
- Published
- 2017
- Full Text
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41. Proceedings of Réanimation 2017, the French Intensive Care Society International Congress
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Bougouin, Wulfran, Marijon, Eloi, Planquette, Benjamin, Karam, Nicole, Dumas, Florence, Celermajer, David, Jost, Daniel, Lamhaut, Lionel, Beganton, Frankie, Cariou, Alain, Meyer, Guy, Jouven, Xavier, Bureau, Côme, Charpentier, Julien, Salem, Omar Ben Hadj, Guillemet, Lucie, Arnaout, Michel, Ferre, Alexis, Geri, Guillaume, Mongardon, Nicolas, Pène, Frédéric, Chiche, Jean-Daniel, Mira, Jean-Paul, Labro, Guylaine, Belon, François, Luu, Vinh-Phuc, Chenet, Julien, Besch, Guillaume, Puyraveau, Marc, Piton, Gaël, Capellier, Gilles, Martin, Maëlle, Lascarrou, Jean-Baptiste, Le Thuaut, Aurélie, Lacherade, Jean-Claude, Martin-Lefèvre, Laurent, Fiancette, Maud, Vinatier, Isabelle, Lebert, Christine, Bachoumas, Konstantinos, Yehia, Aihem, Henry-Laguarrigue, Matthieu, Colin, Gwenhaël, Reignier, Jean, Privat, Elodie, Escutnaire, Joséphine, Dumont, Cyrielle, Baert, Valentine, Vilhelm, Christian, Hubert, Hervé, Robert-Edan, Vincent, Lakhal, Karim, Quartin, Andrew, Hobbs, Brian, Cely, Cynthia, Bell, Cynthia, Pham, Tai, Schein, Roland, Geng, Yimin, Ng, Chaan, Ehrmann, Stephan, Gandonnière, Charlotte Salmon, Boisramé-Helms, Julie, Le Tilly, Olivier, De Bretagne, Isabelle Benz, Mercier, Emmanuelle, Mankikian, Julie, Bretagnol, Anne, Meziani, Ferhat, Halimi, Jean Michel, Le Guellec, Chantal Barin, Gaudry, Stéphane, Hajage, David, Tubach, Florence, Pons, Bertrand, Boulet, Eric, Boyer, Alexandre, Chevrel, Guillaume, Lerolle, Nicolas, Carpentier, Dorothée, de Prost, Nicolas, Lautrette, Alexandre, Mayaux, Julien, Nseir, Saad, Ricard, Jean-Damien, Dreyfuss, Didier, Robert, René, Garzotto, Franscesco, Kipnis, Eric, Tetta, Ciro, Ronco, Claudio, Schnell, David, Aurelie, Bourmaud, Reynaud, Marie, Clec’h, Christophe, Benyamina, Mourad, Vincent, François, Mariat, Christophe, Bornstain, Caroline, Rouleau, Stephane, Leroy, Christophe, Cohen, Yves, Morel, Jerome, Legrand, Matthieu, Terreaux, Jeremy, Darmon, Michaël, Cantier, Marie, Morisot, Adeline, Guérot, Emmanuel, Canet, Emmanuel, De Montmollin, Etienne, Voiriot, Guillaume, Neuville, Mathilde, Timsit, Jean-François, Sonneville, Romain, Fayssoil, Abdallah, Stojkovic, Tania, Behin, Anthony, Ogna, Adam, Lofaso, Frédéric, Laforet, Pascal, Wahbi, Karim, Prigent, Helene, Duboc, Denis, Orlikowski, David, Eymard, Bruno, Annane, Djillali, Le Guennec, Loic, Cholet, Clémentine, Bréchot, Nicolas, Hekimian, Guillaume, Besset, Sébastien, Lebreton, Guillaume, Nieszkowska, Ania, Trouillet, Jean Louis, Leprince, Pascal, Combes, Alain, Luyt, Charles-Edouard, Griton, Marion, Sesay, Musa, De Panthou, Nadia Sibaï, Bienvenu, Thomas, Biais, Matthieu, Nouette-Gaulain, Karine, Fossat, Guillaume, Baudin, Florian, Coulanges, Cécile, Bobet, Sabrine, Dupont, Arnaud, Courtes, Léa, Benzekri, Dalila, Kamel, Toufik, Muller, Grégoire, Bercault, Nicolas, Barbier, François, Runge, Isabelle, Skarzynski, Marie, Mathonnet, Armelle, Boulain, Thierry, Jouan, Youenn, Teixera, Noémie, Hassen-Khodja, Claire, Guillon, Antoine, Gaborit, Christophe, Grammatico-Guillon, Leslie, Rebière, Cécile, Azoulay, Elie, Misset, Benoit, Ruckly, Stephane, Garrouste-Orgeas, Maïté, Kentish-Barnes, Nancy, Duranteau, Jacques, Thuong, Marie, Joseph, Liliane, Renault, Anne, Lesieur, Olivier, Larbi, Anne-Gaelle Si, Viquesnel, Gérald, Zuber, Benjamin, Marque, Sophie, Kandelman, Stanislas, Pichon, Nicolas, Floccard, Bernard, Galon, Marion, Chevret, Sylvie, Kentish-Barnes, Nancy, Seegers, Valérie, Legriel, Stéphane, Jaber, Samir, Lefrant, Jean Yves, Reuter, Danielle, Guisset, Olivier, Cracco, Christophe, Seguin, Amélie, Durand-Gasselin, Jacques, Thirion, Marine, Cohen-Solal, Zoé, Foulgoc, Hélène, Rogier, Julien, Delobbe, Elsa, Schortgen, Frédérique, Asfar, Pierre, Julie, Boisramé-Helms, Grimaldi, David, Fabien, Grelon, Anguel, Nadia, Sigismond, Lasocki, Matthieu, Henry-Lagarrigue, Gonzalez, Frédéric, François, Legay, Guitton, Christophe, Schenck, Maleka, Jean-Marc, Doise, Radermacher, Peter, Kentish-Barnes, Nancy, Makunza, Joseph Nsiala, Nathalie, Mejeni Kamdem, Pierre, Akilimali, Adolphe, Kilembe Manzanza, Mahieu, Rafael, Reydel, Thomas, Jamet, Angéline, Chudeau, Nicolas, Huntzinger, Julien, Grange, Steven, Courte, Anne, Lemarie, Jérémie, Gibot, Sébastien, Champey, Julia, Dellamonica, Jean, Du Cheyron, Damien, Contou, Damien, Tadié, Jean-Marc, Cour, Martin, Beduneau, Gaetan, Marchalot, Antoine, Guérin, Laurent, Jochmans, Sebastien, Terzi, Nicolas, Preau, Sebastien, Brun-Buisson, Christian, Dessap, Armand Mekontso, Vedrenne-Cloquet, Meryl, Breinig, Sophie, Jung, Camille, Brussieux, Maxime, Marcoux, Marie-Odile, Durrmeyer, Xavier, Blondé, Renaud, Angoulvant, François, Grasset, Jérôme, Naudin, Jérôme, Dauger, Stéphane, Remy, Solenn, Kolev-Descamp, Karine, Demaret, Julie, Monneret, Guillaume, Javouhey, Etienne, Chomton, Maryline, Sauthier, Michaël, Vallieres, Emilie, Jouvet, Philippe, Geslain, Guillaume, Guellec, Isabelle, Rambaud, Jérôme, Schmidt, Matthieu, Schellongowski, Peter, Dorget, Amandine, Patroniti, Nicolo, Taccone, Fabio Silvio, Miranda, Dinis Reis, Reuter, Jean, Prodanovic, Hélène, Pierrot, Marc, Balik, Martin, Park, Sunghoon, Guérin, Claude, Papazian, Laurent, Jean, Reignier, Ayzac, Louis, Loundou, Anderson, Forel, Jean-Marie, Mezidi, Mehdi, Aublanc, Mylène, Perinel-Ragey, Sophie, Lissonde, Floriane, Louf-Durier, Aurore, Tapponnier, Romain, Yonis, Hodane, Coudroy, Remi, Frat, Jean-Pierre, Boissier, Florence, Thille, Arnaud W., Richard, Flore, Le Gullou-Guillemette, Hélène, Fahri, Jonathan, Kouatchet, Achille, Bodet-Contentin, Laetitia, Garot, Denis, Le Pennec, Déborah, Vecellio, Laurent, Tavernier, Elsa, Dequin, Pierre François, Messika, Jonathan, Martin, Yolaine, Maquigneau, Natacha, Puechberty, Christelle, Stoclin, Annabelle, Villard, Serge, Dechanet, Aline, De Jong, Audrey, Monnin, Marion, Girard, Mehdi, Chanques, Gérald, Molinari, Nicolas, Decavèle, Maxens, Campion, Sébastien, Ainsouya, Roukia, Niérat, Marie-Cécile, Raux, Mathieu, Similowski, Thomas, Demoule, Alexandre, Razazi, Keyvan, Tchir, Martial, May, Faten, Carteaux, Guillaume, Pauline, Rougevin-Baville, Marc, Andronikof, Bedos, Jean Pierre, Mehrsa, Koukabi, Mauger-Briche, Carole, Mijon, François, Trouiller, Pierre, Sztrymf, Benjamin, Cretallaz, Pierre, Mermillod-Blondin, Romain, Savary, Dominique, Sedghiani, Ines, Doghri, Hamdi, Jendoubi, Asma, Hamdi, Dhekra, Cherif, Mohamed Ali, Hechmi, Youssef Zied El, Zouheir, Jerbi, Persico, Nicolas, Maltese, Francois, Ferrigno, Cécile, Bablon, Amandine, Marmillot, Cécile, Roch, Antoine, Sedghiani, Ines, Papin, Grégory, Gainnier, Marc, Argaud, Laurent, Christophe, Adrie, Souweine, Bertrand, Goldgran-Toledano, Dany, Marcotte, Guillaume, Dumenil, Anne Sylvie, Carole, Schwebel, Cecchini, Jerôme, Tuffet, Samuel, Fartoukh, Muriel, Roux, Damien, Thyrault, Martial, Armand, Mekontso Dessap, Chauveau, Simon, Wesner, Nadège, Monnier-Cholley, Laurence, Bigé, Naïke, Ait-Oufella, Hafid, Guidet, Bertrand, Dubée, Vincent, Labroca, Pierre, Lemarié, Jérémie, Chiesa, Gérard, Laroyenne, Isabelle, Borrini, Léo, Klotz, Rémi, Sy, Quoc Phan, Cristina, Marie-Christine, Paysant, Jean, Fillâtre, Pierre, Gacouin, Arnaud, Revest, Matthieu, Tattevin, Pierre, Flecher, Erwan, Le Tulzo, Yves, Jamme, Matthieu, Daviaud, Fabrice, Marin, Nathalie, Thy, Michael, Duceau, Baptiste, Ardisson, Fanny, Sandrine, Valade, Venot, Marion, Schlemmer, Benoît, Zafrani, Lara, Pons, Stéphanie, Styfalova, Lenka, Bouadma, Lila, Radjou, Aguila, Lebut, Jordane, Mourvillier, Bruno, Dorent, Richard, Dilly, Marie-Pierre, Nataf, Patrick, Wolff, Michel, Le Gall, Aëlle, Bourcier, Simon, Tandjaoui-Lambiotte, Yacine, Das, Vincent, Alves, Mikael, Bigé, Naïke, Kamilia, Chtara, Rania, Ammar, Baccouch, Najeh, Turki, Olfa, Ben, Hmida Chokri, Bahloul, Mabrouk, Bouaziz, Mounir, Dupuis, Claire, Perozziello, Anne, Letheulle, Julien, Valette, Marc, Herrmann-Storck, Cécile, Crosby, Laura, Elkoun, Khalid, Madeux, Benjamin, Martino, Frédéric, Migueres, Hélène, Piednoir, Pascale, Posch, Matthias, Thiery, Guillaume, Huynh-Ky, Minh-Tu, Bouchard, Pierre Alexandre, Sarrazin, Jean-François, Lellouche, François, Nay, Mai-Anh, Lortat-Jacob, Brice, Rozec, Bertrand, Colnot, Marion, Belin, Nicolas, Barrot, Loïc, Navellou, Jean-Christophe, Patry, Cyrille, Chaignat, Claire, Claveau, Melanie, Claude, Frédéric, Aubron, Cécile, Mcquilten, Zoe, Bailey, Michael, Board, Jasmin, Buhr, Heidi, Cartwright, Bruce, Dennis, Mark, Forrest, Paul, Hodgson, Carol, Mcilroy, David, Murphy, Deirdre, Murray, Lynnette, Pellegrino, Vincent, Pilcher, David, Sheldrake, Jayne, Tran, Huyen, Vallance, Shirley, Cooper, Jamie, Bombled, Camille, Vidal, Charles, Margetis, Dimitri, Amour, Julien, Coart, Domien, Dubois, Jasperina, Van Herpe, Tom, Mesotten, Dieter, Bailly, Sébastien, Lucet, Jc, Lepape, Alain, L’hériteau, François, Aupée, Martine, Bervas, Caroline, Boussat, Sandrine, Berger-Carbonne, Anne, Machut, Anaïs, Savey, Anne, Tudesq, Jean-Jacques, Valade, Sandrine, Galicier, Lionel, De Bazelaire, Cédric, Munoz-Bongrand, Nicolas, Mignard, Xavier, Biard, Lucie, Mokart, Djamel, Nyunga, Martine, Bruneel, Fabrice, Rabbat, Antoine, Perez, Pierre, Meert, Anne Pascale, Benoit, Dominique, Mariotte, Eric, Ehooman, Franck, Hamidfar-Roy, Rebecca, Hourmant, Yannick, Mailloux, Arnaud, Beurton, Alexandra, Teboul, Jean-Louis, Girroto, Valentina, Laura, Galarza, Richard, Christian, Monnet, Xavier, Dubée, Vincent, Merdji, Hamid, Dang, Julien, Preda, Gabriel, Baudel, Jean-Luc, Desnos, Cyrielle, Zeitouni, Michel, Belaroussi, Ines, Parrot, Antoine, Blayau, Clarisse, Fulgencio, Jean-Pierre, Quesnel, Christophe, Labbe, Vincent, De Chambrun, Marc Pineton, Beloncle, François, Merceron, Sybille, Fedun, Yannick, Lecomte, Bernard, Devaquet, Jérôme, Puidupin, Marc, Verdière, Bruno, Amoura, Zahir, Vuillard, Constance, Xavier, Jais, Bourlier, Delphine, David, Amar, Caroline, Sattler, David, Montani, Gerald, Simmoneau, Olivier, Sitbon, Humbert, Marc, Laurent, Savale, Dujardin, Olivier, Bouglé, Adrien, Ait, Hamou Nora, Salem, Joe Elie, El-Helali, Najoua, Coppere, Zoé, Gibelin, Aude, Taconet, Clementine, Djibre, Michel, Maamar, Adel, Colobert, Elen, Fillatre, Pierre, Uhel, Fabrice, Camus, Christophe, Moraly, Josquin, Dahoumane, Redouane, Maury, Eric, Tan, Boun Kim, Emmanuel, Vivier, Pauline, Misslin, Laurence, Parmeland, Philippe, Poirié, Zahar, Jean-Ralph, Catherine, Haond, Christian, Pommier, Karim, Ait-Bouziad, Mounia, Hocine, Laura, Témime, Rasoldier, Vero Hanitra, Mager, Guy, Eraldi, Jean-Pierre, Gelinotte, Stéphanie, Bougerol, François, Dehay, Julien, Rigaud, Jean-Philippe, Declercq, Pierre Louis, Michel, Julien, Aissa, Nejla, Henard, Sandrine, Guerci, Philippe, Latar, Ichraq, Levy, Bruno, Girerd, Nicolas, Kimmoun, Antoine, Abdallah, Saousen Ben, Nakaa, Sabrine, Hraiech, Kmar, Braiek, Dhouha Ben, Adhieb, Ali, M’ghirbi, Abdelwaheb, Ousji, Ali, Hammouda, Zeineb, Abroug, Fekri, Sellami, Walid, Hajjej, Zied, Samoud, Walid, Labbene, Iheb, Ferjani, Mustapha, Medhioub, Fatma Kaaniche, Allela, Rania, Algia, Najla Ben, Cherif, Samar, Attia, Delphine, Herinjatovo, Andrianjafy, Francois, Xavier Laborne, Bouhouri, Med Aziz, Slaoui, Mohamed Taoufik, Soufi, A., Khaleq, K., Hamoudi, D., Nsiri, A., Harrar, R., Maury, Eric, Goursaud, Suzanne, Gauberti, Maxime, Labeyrie, Paul-Emile, Gaberel, Thomas, Agin, Véronique, Maubert, Eric, Vivien, Denis, Gakuba, Clément, Armel, Anwar, Abdou, Rchi, Kalouch, Samira, Yaqini, Khalid, Chlilek, Aziz, Sellami, Walid, Yedder, Soumaya Ben, Tonnelier, Alexandre, Hervé, Fabien, Halley, Guillaume, Frances, Jean-Luc, Moriconi, Mickael, Saoli, Mathieu, Garnero, Aude, Demory, Didier, Arnal, Jean Michel, Canoville, Bertrand, Daubin, Cédric, Brunet, Jennifer, Ghezala, Hassen Ben, Snouda, Salah, Ben, Chiekh Imen, Kaddour, Moez, Ouanes, Islem, Marzouk, Mahdi, Haniez, Françoise, Jaillet, Hélène, Maas, Henri, Andrivet, Pierre, Darné, Christian, Viau, François, Ghezala, Hassen Ben, Ouanes, Islem, Dangers, Laurence, Montlahuc, Claire, Perbet, Sébastien, Ouanes, Islem, Hamouda, Zeineb, Nakee, Sabrine, Ouanes-Besbes, Lamia, Meddeb, Khaoula, Khedher, Ahmed, Sma, Nesrine, Ayachi, Jihene, Khelfa, Messaouda, Fraj, Nesrine, Lakhal, Hend Ben, Hammed, Hedia, Boukadida, Raja, Hafsa, Hajer, Chouchene, Imed, Boussarsar, Mohamed, Ben, Braiek Dhouha, Ouanes-Besbes, Lamia, Benatti, Kaoutar, Dafir, A., Aissaoui, W., Elallame, W., Haddad, W., Cherkab, R., Elkettani, C., Barrou, L., Hamou, Zakaria Ait, Repessé, Xavier, Charron, Cyril, Aubry, Alix, Paternot, Alexis, Maizel, Julien, Slama, Michel, Vieillard-Baron, Antoine, Trifi, Ahlem, Abdellatif, Sami, Fatnassi, Meriem, Daly, Foued, Nasri, Rochdi, Ismail, Khaoula Ben, Lakhal, Salah Ben, Bazalgette, Florian, Daurat, Aurelien, Roger, Claire, Muller, Laurent, Doyen, Denis, Plattier, Rémi, Robert, Alexandre, Hyvernat, Hervé, Bernardin, Gilles, Jozwiak, Mathieu, Gimenez, Julia, Mercado, Pablo, Depret, François, Tilouch, Najla, Mater, Houda, Habiba, Ben Sik Ali, Jaoued, Oussama, Gharbi, Rim, Hassen, Mohamed Fekih, Elatrous, Souheil, Pasquier, Pierre, Vuillemin, Quentin, Schaal, Jean-Vivien, Martinez, Thibault, Duron, Sandrine, Trousselard, Marion, Schwartzbrod, Pierre-Eric, Baugnon, Thomas, Dupic, Laurent, Gout, Caroline Duracher, De Saint Blanquat, Laure, Séguret, Sylvie, Le Ficher, Gaelle, Orliaguet, Gilles, Hubert, Philippe, Bigé, Naïke, Leblanc, Guillaume, Briand, Raphael, Brousse, Lucas, Brunet, Valentine, Chatelain, Léonard, Prat, Dominique, Jacobs, Frédéric, Demars, Nadège, Hamzaoui, Olfa, Moneger, Guy, Sztrymf, Benjamin, Duburcq-Gury, Emilie, Satre-Buisson, Léa, Duburcq, Thibault, Poissy, Julien, Robriquet, Laurent, Jourdain, Merce, Sécheresse, Thierry, Miquet, Mattéo, Simond, Alexis, Usseglio, Pascal, Hamdaoui, Yamina, Boussarsar, Mohamed, Desailly, Victoire, Brun, Patrick, Iglesias, Pauline, Huet, Jérémie, Masseran, Clémence, Claudon, Antoine, Ebeyer, Clément, Truong, Thomas, Tesnière, Antoine, Mignon, Alexandre, Gaudry, Stéphane, Resiere, Dabor, Valentino, Ruddy, Fabre, Julien, Roze, Benoit, Ferge, Jean-Louis, Charbatier, Cyrille, Marie, Sabia, Scholsser, Michel, Aitsatou, Signate, Raad, Mathieu, Cabie, Andre, Mehdaoui, Hossein, Cousin, Clement, Rousseau, Christophe, Llitjos, Jean-François, Alby-Laurent, Fanny, Toubiana, Julie, Belaidouni, Nadia, Cherruault, Marlène, Tamburini, Jérome, Bouscary, Didier, Fert, Sarah, Delile, Eugénie, Besnier, Emmanuel, Coquerel, David, Nevière, Rémi, Richard, Vincent, Tamion, Fabienne, Wei, Chaojie, Louis, Huguette, Margaux, Schmitt, Eliane, Albuisson, Sophie, Orlowski, Kimmoun, Antoine, Riad, Zakaria, Coroir, Marine, Rémy, Bernard, Camille, Bombled, Joffre, Jeremie, Aegerter, Philippe, Ilic, Dejan, Ginet, Marc, Pignard, Caroline, Nguyen, Philippe, Mourey, Guillaume, Samain, Emmanuel, Pili-Floury, Sebastien, Jouffroy, Romain, Nicolas, Caill, Alvarez, Jean-Claude, Tomasso, Maraffi, Philippe, Pascal, Raphalen, Jean-Herlé, Frédéric, J. Baud, Vivien, Benoit, Pierre, Carli, Baud, Frederic, Fredj, Hana, Blel, Youssef, Brahmi, Nozha, Ghezala, Hassen Ben, Hanak, Anne-Sophie, Malissin, Isabelle, Poupon, Joel, Risede, Patricia, Chevillard, Lucie, Megarbane, Bruno, Barghouth, Manel, M’rad, Aymen, Hmida, Marwa Ben, Thabet, Hafedh, Liang, Hao, Callebert, Jacques, Lagard, Camille, Megarbane, Bruno, Habacha, Sahar, Chatbri, Bassem, Camillerapp, Christophe, Labat, Laurence, Soichot, Marion, Garçon, Pierre, Goury, Antoine, Kerdjana, Lamia, Voicu, Sebastian, Deye, Nicolas, Megarbane, Bruno, Armel, Anwar, Anas, Benqqa, Othman, Mezgui, Moumine, S., Kalouch, S., Yakini, K. K., Chlilek, A., Hajji, Ahmed, Louati, Assaad, Khaldi, Ammar, Borgi, Aida, Ghali, Nargess, Bouziri, Asma, Menif, Khaled, Ben, Jaballah Najla, Armel, Anwar, Brochon, Jeanne, Dumitrescu, Mihaela, Thévenot, Sarah, Saulnier, Jean-Pascal, Husseini, Khaled, Laland, Catherine, Cremniter, Julie, Bousseau, Anne, Castel, Olivier, Brémaud-Csizmadia, Cassandra, Diss, Margot, Portefaix, Aurélie, Berthiller, Julien, Gillet, Yves, Aoul, Nabil Tabet, Douah, Ali, Addou, Zakaria, Youbi, Houari, Moussati, Mohamed, Belhabiche, Kamel, Mir, Souad, Abada, Sanaa, Amel, Zerhouni, Aouffen, Nabil, Bouzit, Zina, Grati, Ahmed H., Dhonneur, Gilles F., Boussarsar, Mohamed, Lau, Nicolas, Mezhari, Ilham, Roucaud, Nicolas, Le Meur, Matthieu, Paulet, Rémi, Coudray, Jean-Michel, Ghomari, Wahiba Imène, Boumlik, Reda, Peigne, Vincent, Daban, Jean-Louis, Boutonnet, Mathieu, Lenoir, Bernard, Yassine, Hafiani, Mohamed, Cheikh Chaigar, Khalid, Allali, Ihssan, Moussaid, Said, Elyoussoufi, Said, Salmi, Jazia, Amira Ben, Fatima, Jaziri, Wafa, Skouri, Maha, Bennasr, Khaoula, Ben Abdelghni, Sami, Turki, Abdallah Taeib, B., Medhioub, Fatma Kaaniche, Rollet-Cohen, Virginie, Sachs, Philippe, Merchaoui, Zied, Renolleau, Sylvain, Oualha, Mehdi, Eloi, Maxime, Jean, Sandrine, Demoulin, Maryne, Valentin, Cécile, Guilbert, Julia, Walti, Hervé, Carbajal, Ricardo, Leger, Pierre-Louis, Karaca-Altintas, Yasemin, Botte, Astrid, Labreuche, Julien, Drumez, Elodie, Devos, Patrick, Bour, Franck, Leclerc, Francis, Ahmed, Ayari, khaled, Menif, Louati, Assaad, Aida, Borgi, Ammar, Khaldi, Narjess, Ghali, Ahmed, Hajji, Asma, Bouziri, Jaballah, Nejla Ben, Leger, Pierre-Louis, Pansiot, Julien, Besson, Valérie, Palmier, Bruno, Baud, Olivier, Cauli, Bruno, Charriaut-Marlangue, Christiane, Mansuy, Amélie, Michel, Fabrice, Le Bel, Stéphane, Boubnova, Julia, Ughetto, Fabrice, Ovaert, Caroline, Fouilloux, Virginie, Paut, Olivier, Jacquet-Lagrèze, Matthias, Tiebergien, Nicolas, Hanna, Najib, Evain, Jean-Noël, Baudin, Florent, Courtil-Teyssedre, Sonia, Bompard, Dominique, Lilot, Marc, Chardonal, Laurent, Fellahi, Jean-Luc, Claverie, Claire, Pouessel, Guillaume, Dorkenoo, Aimée, Renaudin, Jean-Marie, Eb, Mireille, Deschildre, Antoine, Leteurtre, Stéphane, Yassine, Hafiani, Kamal, Belkadi, Adil, Oboukhlik, Ouafa, Aalalam, Mouhamed, Moussaoui, Rachid, Charkab, Lahoucine, Barrou, Dachraoui, Fahmi, Nakkaa, Sabrine, Zaineb, Hammouda, Mlika, Dorra, Gloulou, Olfa, Boussarsar, Mohamed, Zelmat, Setti-Aouicha, Batouche, Djamila-Djahida, Chaffi, Belkacem, Mazour, Fatima, Benatta, Nadia, Fathallah, Ines, Aloui, Rafaa, Zoubli, Aymen, Kouraichi, Nadia, Fathallah, Ines, Kouraichi, N., Salem, Shireen, Vicaut, Eric, Megarbane, Bruno, Ambroise, David, Loriot, Anne-Marie, Bourgogne, Emmanuel, Megarbane, Bruno, Ghadhoune, Hatem, Jihene, Guissouma, Trabelsi, Insaf, Allouche, Hend, Brahmi, Habib, Samet, Mohamed, Ghord, Hatem El, Lebeau, Rodolphe, Laplanche, Jean-Louis, Benturquia, Nadia, Megarbane, Bruno, Blel, Youssef, M’rad, A., Essafi, Fatma, Benabderrahim, A., Jouffroy, Romain, Resiere, Dabor, Sanchez, Bruno, Inamo, Jocelyn, Megarbane, Bruno, Batouche, Djamila-Djahida, Zerhouni, Amel, Tabeliouna, Kheira, Negadi, Amine, Mentouri, Zahia, Le Gall, Fanny, Hanouz, Jean-Luc, Normand, Hervé, Khoury, Abdo, Sall, Fatimata Seydou, De Luca, Alban, Pugin, Aurore, Pazart, Lionel, Vidal, Chrystelle, Leroux, Franck, Khoury, Abdo, L’Her, Erwan, Marjanovic, Nicolas, Khoury, Abdo, Desmettre, Thibault, Lambert, Christophe, Ragey, Sophie Perinel, Baboi, Loredana, Bazin, Jean-Etienne, Koffel, Catherine, Dhonneur, Gilles, Bouzit, Zina, Bradai, Larbi, Ayed, Issam Ben, Aissa, Fethi, Haouache, Hakim, Marechal, Yoann, Biston, Patrick, Piagnerelli, Michael, Bortolotti, Perrine, Colling, Delphine, Colas, Vincent, Voisin, Benoit, Dewavrin, Florent, Onimus, Thierry, Girardie, Patrick, Saulnier, Fabienne, Urbina, Tomas, Nguyen, Yann, Druoton, Anne-Lise, Soudant, Marc, Barraud, Damien, Conrad, Marie, Cravoisy-Popovic, Aurélie, Nace, Lionel, Bollaert, Pierre-Edouard, Martin, Ruste, Bitker, Laurent, Richard, Jean-Christophe, Brossier, David, Goyer, Isabelle, Marquis, Christopher, Lampin, Marie, Duhamel, Alain, Béhal, Hélène, Dhaoui, Tahar, Godeffroy, Véronique, Devouge, Eve, Evrard, Dominique, Delepoulle, Florence, Racoussot, Sylvie, Grandbastien, Bruno, Lampin, Marie, Heilbronner, Claire, Roy, Emeline, Masson, Alexandra, Hadchouel-Duvergé, Alice, Rigourd, Virginie, Delacroix, Elise, Wroblewski, Isabelle, Pin, Isabelle, Ego, Anne, Payen, Valerie, Debillon, Thierry, Millet, Anne, Denot, Julien, Berthelot, Véronique, Thueux, Emilie, Reymond, Marie, De Larrard, Alexandra, Amblard, Alain, Leger, Pierre-Louis, Aoul, Nabil Tabet, Lemiale, Virginie, Oziel, Johanna, Brule, Noelle, Moreau, Anne-Sophie, Marhbène, Takoua, Sellami, Salma, Jamoussi, Amira, Ayed, Samia, Mhiri, Emna, Slim, Leila, Khelil, Jalila Ben, Besbes, Mohamed, Chawki, Sylvain, Hamdi, Aicha, Ciroldi, Magali, Cottereau, Alice, Obadia, Edouard, Zerbib, Yoann, Andrejak, Claire, Ricome, Sylvie, Dupont, Hervé, Baudin, François, Dureau, Pauline, Tanguy, Audrey, Arbelot, Charlotte, Ben, Hassen Kais, Charfeddine, Ahmed, Granger, Benjamin, Laporte, Lucile, Hermetet, Coralie, Regaieg, Kais, Khemakhem, Rim, Chelly, Hedi, Cheikh, Chaigar Mohammed, Mountij, Hamid, Rghioui, Kawtar, Haddad, Wafae, Cherkab, Rachid, Barrou, Houcine, Naima, Aitmouden, bennani, Othmani M., Regaieg, Kais, Douib, Ahmed, Samet, Amal, Cungi, Pierre-Julien, Nguyen, Cédric, Cotte, Jean, D’aranda, Erwan, Meaudre, Eric, Avaro, Jean-Phillipe, Slaoui, Mohamed Taoufik, Mokline, Amel, Rahmani, Imene, Laajili, Achraf, Amri, Helmi, Gharsallah, Lazheri, Gasri, Bahija, Tlaili, Sofiene, Hammouda, Rym, Messadi, Amen Allah, Sudden Death Expertise Center, AKIKI Study Group, DO-RE-MI-FA Group, ENCEPHALITICA Study Group, for the HYPER2S Investigators and REVA Research Network, for the Purpura Fulminans Study Group, GFRUP RMEF, REVA ECMOnet, REA-RAISIN Study Group, for the EurêClark Study Group, and Groupe Communication et Simulation en Pédiatrie
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- 2017
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42. Genotype-phenotype correlations in valosin-containing protein disease
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Schiava, Marianela, Ikenaga, Chiseko, Villar-Quiles, Rocío Nur, Caballero-Ávila, Marta, Topf, Ana, Nishino, Ichizo, Kimonis, Virginia, Udd, Bjarne, Schoser, Benedikt, Zanoteli, Edmar, Souza, Paulo Victor Sgobbi, Tasca, Giorgio, Lloyd, Thomas, Lopez-de Munain, Adolfo, Paradas, Carmen, Pegoraro, Elena, Nadaj-Pakleza, Aleksandra, De Bleecker, Jan, Badrising, Umesh, Alonso-Jiménez, Alicia, Kostera-Pruszczyk, Anna, Miralles, Francesc, Shin, Jin-Hong, Bevilacqua, Jorge Alfredo, Olivé, Montse, Vorgerd, Matthias, Kley, Rudi, Brady, Stefen, Williams, Timothy, Domínguez-González, Cristina, Papadimas, George K, Warman-Chardon, Jodi, Claeys, Kristl G, de Visser, Marianne, Muelas, Nuria, LaForet, Pascal, Malfatti, Edoardo, Alfano, Lindsay N, Nair, Sruthi S, Manousakis, Georgios, Kushlaf, Hani A, Harms, Matthew B, Nance, Christopher, Ramos-Fransi, Alba, Rodolico, Carmelo, Hewamadduma, Channa, Cetin, Hakan, García-García, Jorge, Pál, Endre, Farrugia, Maria Elena, Lamont, Phillipa J, Quinn, Colin, Nedkova-Hristova, Velina, Peric, Stojan, Luo, Sushan, Oldfors, Anders, Taylor, Kate, Ralston, Stuart, Stojkovic, Tanya, Weihl, Conrad, Diaz-Manera, Jordi, VCP International Study Group, Schiava, Marianela, Caballero-Ávila, Marta, Nishino, Ichizo, Zanoteli, Edmar, Souza, Paulo Victor Sgobbi, Tasca, Giorgio, Pegoraro, Elena, Shin, Jin-Hong, Domínguez-Gonzalez, Cristina, Claeys, Kristl G., Alfano, Lindsay N., Nair, Sruthi S., Cetin, Hakan, Luo, Sushan, Weihl, Conrad, Díaz-Manera, Jordi, VCP International Study Group, Neurology, and ANS - Neuroinfection & -inflammation
- Subjects
Psychiatry and Mental health ,MYOPATHY ,GENETICS ,FRONTOTEMPORAL DEMENTIA ,INCL BODY MYOSITIS ,MUSCLE DISEASE ,Surgery ,Human medicine ,Neurology (clinical) - Abstract
[ntroduction] Valosin-containing protein (VCP) disease, caused by mutations in the VCP gene, results in myopathy, Paget's disease of bone (PBD) and frontotemporal dementia (FTD). Natural history and genotype-phenotype correlation data are limited. This study characterises patients with mutations in VCP gene and investigates genotype-phenotype correlations., [Methods] Descriptive retrospective study collecting clinical and genetic data from patients with confirmed mutations in the VCP gene in 52 centres from 24 countries., [Results] We included 234 patients (70% males, mean age 55.54 + 9.6 years [y]). Mean age at symptom onset 45.6 + 9.3 y, mean diagnostic delay 7.74 + 6 y, and mean time of disease progression 11.3 + 6.9 y. Disease onset was symmetric lower limb weakness in 50% of the patients progressing towards generalized muscle weakness affecting proximal and distal lower and upper limb muscles. Other clinical features included: respiratory symptoms in 40.3%, PBD in 26.7%, dysautonomia in 21.4%, upper and lower motor neuron signs in 13.3% and 21.85%, and FTD in 13.9% of the patient. Fifty-eight genetic variants were identified being the most frequent the c.464G>A, p.Arg155His in 28% of the patients and the c.463C>T, p.Arg155Cys in 11.1%. Twenty new mutations were identified. The c.463C>T, p.Arg155Cys variant had the earliest age of onset (37.8 + 7.6 y) among the 4 most frequent variants and a higher frequency of axial weakness, distal upper limb weakness, scapula winging and mix cognitive. 19.1% of the patients were full time wheelchair users and 4.0% (9/225) were bedridden at a median of 8.5 y and 15 y from onset. Thirty–seven patients died at a mean age of 63.9 + 8.1 and at a mean of 15.8 + 6.6 y from disease onset, 7 due to respiratory insufficiency and 5 due to rapidly progressive dementia. The presence of a FVC< 50% was associated with being full time wheelchair user/ bedridden and the presence of a FVC, [Conclusion] The heterogeneous clinical features of VCP could resemble other neuromuscular conditions. The c.463C>T p.Arg155Cys variant seems to have an earlier age of onset and more severe phenotype. Presence of FVC
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- 2022
43. Therapeutic thoroughfares for adults living with Pompe disease
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Schoser, Benedikt, primary and Laforet, Pascal, additional
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- 2022
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44. Genetic Characterization of a French Cohort of GNE‐mutation negative inclusion body myopathy patients with exome sequencing
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Cerino, Mathieu, Gorokhova, Svetlana, Laforet, Pascal, Ben Yaou, Rabah, Salort‐Campana, Emmanuelle, Pouget, Jean, Attarian, Shahram, Eymard, Bruno, Deleuze, Jean‐François, Boland, Anne, Behin, Anthony, Stojkovic, Tanya, Bonne, Gisele, Levy, Nicolas, Bartoli, Marc, and Krahn, Martin
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- 2017
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45. The diagnostic value of hyperammonaemia induced by the non-ischaemic forearm exercise test
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Hogrel, Jean-Yves, Janssen, Jorien B E, Ledoux, Isabelle, Ollivier, Gwenn, Béhin, Anthony, Stojkovic, Tanya, Eymard, Bruno, Voermans, Nicol C, and Laforet, Pascal
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- 2017
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46. Unravelling the impact of frontal lobe impairment for social dysfunction in myotonic dystrophy type 1
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Morin, Alexandre, primary, Funkiewiez, Aurelie, additional, Routier, Alexandre, additional, Le Bouc, Raphael, additional, Borderies, Nicolas, additional, Galanaud, Damien, additional, Levy, Richard, additional, Pessiglione, Mathias, additional, Dubois, Bruno, additional, Eymard, Bruno, additional, Michon, Claire-Cecile, additional, Angeard, Nathalie, additional, Behin, Anthony, additional, Laforet, Pascal, additional, Stojkovic, Tanya, additional, and Azuar, Carole, additional
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- 2022
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47. Cognitive profile of patients with glycogen storage disease type III: a clinical description of seven cases
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Michon, Claire-Cécile, Gargiulo, Marcela, Hahn-Barma, Valérie, Petit, François, Nadaj-Pakleza, Aleksandra, Herson, Ariane, Eymard, Bruno, Labrune, Philippe, and Laforet, Pascal
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- 2015
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48. Muscle cells of sporadic amyotrophic lateral sclerosis patients secrete neurotoxic vesicles
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Le Gall, Laura, primary, Duddy, William J., additional, Martinat, Cecile, additional, Mariot, Virginie, additional, Connolly, Owen, additional, Milla, Vanessa, additional, Anakor, Ekene, additional, Ouandaogo, Zamalou G., additional, Millecamps, Stephanie, additional, Lainé, Jeanne, additional, Vijayakumar, Udaya Geetha, additional, Knoblach, Susan, additional, Raoul, Cedric, additional, Lucas, Olivier, additional, Loeffler, Jean Philippe, additional, Bede, Peter, additional, Behin, Anthony, additional, Blasco, Helene, additional, Bruneteau, Gaelle, additional, Del Mar Amador, Maria, additional, Devos, David, additional, Henriques, Alexandre, additional, Hesters, Adele, additional, Lacomblez, Lucette, additional, Laforet, Pascal, additional, Langlet, Timothee, additional, Leblanc, Pascal, additional, Le Forestier, Nadine, additional, Maisonobe, Thierry, additional, Meininger, Vincent, additional, Robelin, Laura, additional, Salachas, Francois, additional, Stojkovic, Tanya, additional, Querin, Giorgia, additional, Dumonceaux, Julie, additional, Butler Browne, Gillian, additional, González De Aguilar, Jose‐Luis, additional, Duguez, Stephanie, additional, and Pradat, Pierre Francois, additional
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- 2022
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49. Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial
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Diaz-Manera, Jordi, primary, Kishnani, Priya S, additional, Kushlaf, Hani, additional, Ladha, Shafeeq, additional, Mozaffar, Tahseen, additional, Straub, Volker, additional, Toscano, Antonio, additional, van der Ploeg, Ans T, additional, Berger, Kenneth I, additional, Clemens, Paula R, additional, Chien, Yin-Hsiu, additional, Day, John W, additional, Illarioshkin, Sergey, additional, Roberts, Mark, additional, Attarian, Shahram, additional, Borges, Joao Lindolfo, additional, Bouhour, Francoise, additional, Choi, Young Chul, additional, Erdem-Ozdamar, Sevim, additional, Goker-Alpan, Ozlem, additional, Kostera-Pruszczyk, Anna, additional, Haack, Kristina An, additional, Hug, Christopher, additional, Huynh-Ba, Olivier, additional, Johnson, Judith, additional, Thibault, Nathan, additional, Zhou, Tianyue, additional, Dimachkie, Mazen M, additional, Schoser, Benedikt, additional, Behin, Anthony, additional, Boentert, Matthias, additional, Carvalho, Gerson, additional, Chahin, Nizar, additional, Charrow, Joel, additional, Deegan, Patrick, additional, Durmus Tekce, Hacer, additional, Duval, Fanny, additional, Genge, Angela, additional, Gutmann, Ludwig, additional, Henderson, Robert D, additional, Hennermann, Julia B, additional, Hiwot, Tarekegn, additional, Hughes, Derralynn, additional, Karaa, Amel, additional, Karam, Chafic, additional, Kautzky-Willer, Alexandra, additional, Komaki, Hirofumi, additional, Laforet, Pascal, additional, Longo, Nicola, additional, Malinova, Vera, additional, Maré, Ricardo, additional, Maxit, Clarisa, additional, Mengel, Eugen, additional, Moggio, Maurizio Gualtiero, additional, Molnár, Mária Judit, additional, Mongini, Tiziana Enrica, additional, Nadaj-Pakleza, Aleksandra, additional, Nascimento Osorio, Andres, additional, Noury, Jean-Baptiste, additional, Oliveira, Acary Souza Bulle, additional, Parman, Yesim, additional, Pena, Loren, additional, Remiche, Gauthier, additional, Sciacco, Monica, additional, Shieh, Perry B, additional, Smith, Cheryl, additional, Stulnig, Thomas, additional, Taithe, Frederic, additional, Tard, Céline, additional, Tarnopolsky, Mark, additional, Vorgerd, Matthias, additional, Whitley, Chester, additional, Young, Peter, additional, Alonso-Pérez, Jorge, additional, Altemus, Patricia, additional, Aubé-Nathier, Anne-Catherine, additional, Avelar, Jennifer B, additional, Bailey, Carrie, additional, Bekircan-Kurt, Can Ebru, additional, Billy, Jenny, additional, Boschi, Silvia, additional, Brown, Kathryn E, additional, Carrera Garcia, Laura, additional, Chase, Lauren, additional, Cirne, Hamilton, additional, Danjoux, Loïc, additional, Davion, Jean-Baptiste, additional, DeArmey, Stephanie, additional, Fedotova, Ekaterina, additional, Gandolfo, Eve, additional, Grosz, Zoltan, additional, Guellec, Dewi, additional, Guettsches, Anne-Katrin, additional, Guglieri, Michela, additional, Hatcher, Erin, additional, Helms, Sina, additional, Hufgard-Leitner, Miriam, additional, Klyushnikov, Sergey A., additional, Langton, Jacqui, additional, Linková, Lenka, additional, Mavroudakis, Nicolas, additional, Mazurová, Stella, additional, Mori, Madoka, additional, Müller-Miny, Louisa, additional, Musumeci, Olimpia, additional, Nance, Christopher S, additional, Natera-de Benito, Daniel, additional, Neel, Robert, additional, Niizawa, Gabriela A, additional, Noll, Lauren, additional, Ortega, Erik, additional, Pasnoor, Mamatha, additional, Pautot, Vivien, additional, Potulska-Chromik, Anna, additional, Pugliese, Alessia, additional, Questienne, Claire, additional, Ramos Lopes, Margarida, additional, Reyes-Leiva, David, additional, Riedl, Michaela, additional, Rugiero, Marcelo Francisco, additional, Salort-Campana, Emmanuelle, additional, Sgobbi Souza, Paulo Victor, additional, Sole, Guilhem, additional, Solera, Luca, additional, Souto Lopes, Suzara, additional, Specht, Sabine, additional, Statland, Jeffrey, additional, Swenson, Andrea, additional, Tan, Chong Yew, additional, Tizon, Sónia, additional, van der Beek, N A M E, additional, van Kooten, Harmke A., additional, Wencel, Marie, additional, Wenninger, Stephan, additional, and Zagnoli, Fabien, additional
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- 2021
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50. Determinants of diaphragm inspiratory motion, diaphragm thickening and its performance for predicting respiratory restrictive pattern in Duchenne muscular dystrophy
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Fayssoil, Abdallah, primary, Nguyen, Lee S., additional, Stojkovic, Tanya, additional, Prigent, Helene, additional, Carlier, Robert, additional, Amthor, Helge, additional, Bergounioux, Jean, additional, Zini, Justine, additional, Damez‐Fontaine, Sebastien, additional, Wahbi, Karim, additional, Laforet, Pascal, additional, Nicolas, Guillaume, additional, Behin, Anthony, additional, Bassez, Guillaume, additional, Leturcq, France, additional, Yaou, Rabah Ben, additional, Mansencal, Nicolas, additional, Annane, Djillali, additional, Lofaso, Frédéric, additional, and Orlikowski, David, additional
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- 2021
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