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Gruppiert nach: Dokumententyp | Veröffentlichungsdatum
Anzahl der Publikationen: 12

Zeitschriftenartikel

Walter, Maggie C.; Chiriboga, Claudia; Duong, Tina; Goemans, Nathalie; Mayhew, Anna; Ouillade, Laetitia; Oskoui, Maryam; Quinlivan, Ros; Vazquez-Costa, Juan F.; Vissing, John und Servais, Laurent (2021): Improving Care and Empowering Adults Living with SMA: A Call to Action in the New Treatment Era. In: Journal of Neuromuscular Diseases, Bd. 8, Nr. 4: S. 543-551

Murphy, Lindsay B.; Schreiber-Katz, Olivia; Rafferty, Karen; Robertson, Agata; Topf, Ana; Willis, Tracey A.; Heidemann, Marcel; Thiele, Simone; Bindoff, Laurence; Laurent, Jean-Pierre; Lochmueller, Hanns; Mathews, Katherine; Mitchell, Claudia; Stevenson, John Herbert; Vissing, John; Woods, Lacey; Walter, Maggie C. und Straub, Volker (2020): Global FKRP Registry: observations in more than 300 patients with Limb Girdle Muscular Dystrophy R9. In: Annals of Clinical and Translational Neurology, Bd. 7, Nr. 5: S. 757-766

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; Lokken, Nicoline; Diaz-Manera, Jordi; Urtizberea, Jon A.; Mercuri, Eugenio; Kyncl, Martin; Walter, Maggie C. und Carlier, Robert Y. (2020): European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A). In: Journal of Neurology, Bd. 267, Nr. 1: S. 45-56

Alonso-Perez, Jorge; Gonzalez-Quereda, Lidia; Bello, Luca; Guglieri, Michela; Straub, Volker; Gallano, Pia; Semplicini, Claudio; Pegoraro, Elena; Zangaro, Vittoria; Nascimento, Andres; Ortez, Carlos; Comi, Giacomo Pietro; ten Dam, Leroy; De Visser, Marianne; Kooi, A. J. van der; Garrido, Cristina; Santos, Manuela; Schara, Ulrike; Gangfuss, Andrea; Lokken, Nicoline; Storgaard, Glesper Helbo; Vissing, John; Schoser, Benedikt; Dekomien, Gabriele; Udd, Bjarne; Palmio, Johanna; D'Amico, Adele; Politano, Luisa; Nigro, Vincenzo; Bruno, Claudio; Panicucci, Chiara; Sarkozy, Anna; Abdel-Mannan, Omar; Alonsolimenez, Alicia; Claeys, Kristl G.; Gomez-Andres, David; Munell, Francina; Costa-Comellas, Laura; Haberlova, Jana; Rohlenova, Marie; Elke, De Vos; De Bleecker, Jan L.; Dominguez-Gonzalez, Cristina; Tasca, Giorgio; Weiss, Claudia; Deconinck, Nicolas; Fernandez-Torron, Roberto; de Munain, Adolfo Lopez; Camacho-Salas, Ana; Melegh, Bela; Hadzsiev, Kinga; Leonardis, Lea; Koritnik, Blaz; Garibaldi, Matteo; De Leon-Hernandez, Juan Carlos; Malfatti, Edoardo; Fraga-Bau, Arturo; Richard, Isabelle; Illa, Isabel und Diaz-Manera, Jordi (2020): New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy. In: Brain, Bd. 143: S. 2696-2708

Chardon, Jodi Warman; Diaz-Manera, Jordi; Tasca, Giorgio; Bonnemann, Carsten G.; Gomez-Andres, David; Heerschap, Arend; Mercuri, Eugenio; Muntoni, Francesco; Pichiecchio, Anna; Ricci, Enzo; Walter, Maggie C.; Hanna, Michael; Jungbluth, Heinz; Morrow, Jasper M.; Fernandez-Torron, Roberto; Udd, Bjarne; Vissing, John; Yousry, Tarek; Quijano-Roy, Susana; Straub, Volker und Carlier, Robert Y. (2019): MYO-MRI diagnostic protocols in genetic myopathies. In: Neuromuscular Disorders, Bd. 29, Nr. 11: S. 827-841

Laforet, Pascal; Inoue, Michio; Goillot, Evelyne; Lefeuvre, Claire; Cagin, Umut; Streichenberger, Nathalie; Leonard-Louis, Sarah; Brochier, Guy; Madelaine, Angeline; Labasse, Clemence; Hedberg-Oldfors, Carola; Krag, Thomas; Jauze, Louisa; Fabregue, Julien; Labrune, Philippe; Milisenda, Jose; Nadaj-Pakleza, Aleksandra; Sacconi, Sabrina; Mingozzi, Federico; Ronzitti, Giuseppe; Petit, Francois; Schoser, Benedikt; Oldfors, Anders; Vissing, John; Romero, Norma B.; Nishino, Ichizo und Malfatti, Edoardo (2019): Deep morphological analysis of muscle biopsies from type III glycogenesis (GSDIII), debranching enzyme deficiency, revealed stereotyped vacuolar myopathy and autophagy impairment. In: Acta Neuropathologica Communications, Bd. 7, Nr. 1, 167

Pena, Loren D. M.; Barohn, Richard J.; Byrne, Barry J.; Desnuelle, Claude; Goker-Alpan, Ozlem; Ladha, Shafeeq; Laforet, Pascal; Mengel, Karl Eugen; Pestronk, Alan; Pouget, Jean; Schoser, Benedikt; Straub, Volker; Trivedi, Jaya; Van Damme, Philip; Vissing, John; Young, Peter; Kacena, Katherine; Shafi, Raheel; Thurberg, Beth L.; Culm-Merdek, Kerry und van der Ploeg, Ans T. (2019): Safety, tolerability, pharmacokinetics, pharmacodynamics, and exploratory efficacy of the novel enzyme replacement therapy avalglucosidase alfa (neoGAA) in treatment-naive and alglucosidase alfa-treated patients with late-onset Pompe disease: A phase 1, open-label, multicenter, multinational, ascending dose study. In: Neuromuscular Disorders, Bd. 29, Nr. 3: S. 167-186

Tasca, Giorgio; Monforte, Mauro; Diaz-Manera, Jordi; Brisca, Giacomo; Semplicini, Claudio; D'Amico, Adele; Fattori, Fabiana; Pichiecchio, Anna; Berardinelli, Angela; Maggi, Lorenzo; Maccagnano, Elio; Lokken, Nicoline; Marini-Bettolo, Chiara; Munell, Francina; Sanchez, Angel; Alshaikh, Nahla; Voermans, Nicol C.; Dastgir, Jahannaz; Vlodavets, Dmitry; Haberlova, Jana; Magnano, Gianmichele; Walter, Maggie C.; Quijano-Roy, Susana; Carlier, Robert-Yves; Engelen, Baziel G. M. van; Vissing, John; Straub, Volker; Bonnemann, Carsten G.; Mercuri, Eugenio; Muntoni, Francesco; Pegoraro, Elena; Bertini, Enrico; Udd, Bjarne; Ricci, Enzo und Bruno, Claudio (2018): MRI in sarcoglycanopathies: a large international cohort study. In: Journal of Neurology Neurosurgery and Psychiatry, Bd. 89, Nr. 1: S. 72-77 [PDF, 3MB]

Pena, Loren; Baron, Richard; Byrne, Barry; Desnuelle, Claude; Goker-Alpan, Ozlem; Ladha, Shafeeq; Laforet, Pascal; Mengel, Eugen; Pestronki, Alan; Pouget, Jean; Schoser, Benedikt; Straub, Volker; Trivedi, Jaya; Damme, Philip van; Vissing, John; Young, Peter; Thurberg, Beth; Culm-Merdek, Kerry; Short, Gerard und Ploeg, Ans van der (2016): Phase 1 exploratory efficacy of the novel enzyme replacement therapy neoGAA in treatment-naive and alglucosidase alfa-treated late-onset Pompe disease patients. In: Molecular Genetics and Metabolism, Bd. 117, Nr. 2: S92-S92

Ladha, Shafeeq; Laforet, Pascal; Mengel, Eugen; Pestronk, Alan; Pouget, Jean; Schoser, Benedikt; Straub, Volker; Trivedi, Jaya; Damme, Philip van; Vissing, John; Young, Peter; Shafi, Raheel; Culm-Merdek, Kerry; Short, Gerard und Pena, Loren (2016): Phase 1 safety and pharmacokinetics of the novel enzyme replacement therapy neoGAA in treatment-naive and alglucosidase alfa-treated late-onset Pompe disease patients. In: Molecular Genetics and Metabolism, Bd. 117, Nr. 2: S117-S118

Pena, Loren; Barohn, Richard; Byme, Barry; Desnuelle, Claude; Goker-Alpan, Ozlem; Ladha, Shafeeq; Laforet, Pascal; Mengel, Eugen; Pestronk, Alan; Pouget, Jean; Schoser, Benedikt; Straub, Volker; Trivedi, Jaya; Damme, Philip van; Vissing, John; Young, Peter; Thurberg, Beth; Culm-Nlerdek, Kerry; Short, Gerard und Ploeg, Ans van der (2016): Phase 1 Exploratory Efficacy of the Novel Enzyme Replacement Therapy NeoGAA in Treatment-Naive and Alglucosidase Alfa-Treated Late-Onset Pompe Disease Patients. In: Neurology, Bd. 86

Trivedi, Jaya; Ploeg, Ans van der; Barohn, Richard; Byrne, Barry; Desnuelle, Claude; Goker-Alpan, Ozlem; Ladha, Shafeeq; Laforet, Pascal; Mengel, Eugen; Pestronk, Alan; Pouget, Jean; Schoser, Benedikt; Straub, Volker; Damme, Philip van; Vissing, John; Young, Peter; Shafi, Raheel; Culm-Merdek, Kerry; Short, Gerard und Pena, Loren (2016): Phase 1 Safety and Pharmacokinetics of the Novel Enzyme Replacement Therapy neoGAA in Treatment-Naive and Alglucosidase Alfa-Treated Late-Onset Pompe Disease Patients. In: Neurology, Bd. 86

Diese Liste wurde am Sun Mar 24 00:25:37 2024 CET erstellt.