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Gruppiert nach: Dokumententyp | Veröffentlichungsdatum
Anzahl der Publikationen: 22

Zeitschriftenartikel

Moore, Ursula; Gordish, Heather; Diaz-Manera, Jordi; James, Meredith K.; Mayhew, Anna G.; Guglieri, Michela; Fernandez-Torron, Roberto; Rufibach, Laura E.; Feng, Jia; Blamire, Andrew M.; Carlier, Pierre G.; Spuler, Simone; Day, John W.; Jones, Kristi J.; Bharucha-Goebell, Diana X.; Salort-Campana, Emmanuelle; Pestronk, Alan; Walter, Maggie C.; Paradas, Carmen; Stojkovic, Tanya; Mori-Yoshimura, Madoka; Bravver, Elena; Pegoraro, Elena; Lowes, Linda Pax; Mendell, Jerry R.; Bushby, Kate und Straub, Volker (2021): Miyoshi myopathy and limb girdle muscular dystrophy R2 are the same disease. In: Neuromuscular Disorders, Bd. 31, Nr. 4: S. 265-280

Jacobs, Marni B.; James, Meredith K.; Lowes, Linda P.; Alfano, Lindsay N.; Eagle, Michelle; Muni Lofra, Robert; Moore, Ursula; Feng, Jia; Rufibach, Laura E.; Rose, Kristy; Duong, Tina; Bello, Luca; Pedrosa-Hernandez, Irene; Holsten, Scott; Sakamoto, Chikako; Canal, Aurelie; Sanchez-Aguilera Praxedes, Nieves; Thiele, Simone; Siener, Catherine; Vandevelde, Bruno; DeWolf, Brittney; Maron, Elke; Guglieri, Michela; Hogrel, Jean-Yves; Blamire, Andrew M.; Carlier, Pierre G.; Spuler, Simone; Day, John W.; Jones, Kristi J.; Bharucha-Goebel, Diana X.; Salort-Campana, Emmanuelle; Pestronk, Alan; Walter, Maggie C.; Paradas, Carmen; Stojkovic, Tanya; Mori-Yoshimura, Madoka; Bravver, Elena; Diaz-Manera, Jordi; Pegoraro, Elena; Mendell, Jerry R.; Mayhew, Anna G. und Straub, Volker (2021): Assessing Dysferlinopathy Patients Over Three Years With a New Motor Scale. In: Annals of Neurology, Bd. 89, Nr. 5: S. 967-978

Diaz-Manera, Jordi; Kishnani, Priya S.; Kushlaf, Hani; Ladha, Shafeeq; Mozaffar, Tahseen; Straub, Volker; Toscano, Antonio; Ploeg, Ans T. van der; 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. und Schoser, Benedikt (2021): Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial. In: Lancet Neurology, Bd. 20, Nr. 12: S. 1012-1026

Moore, Ursula; Jacobs, Marni; Fernandez-Torron, Roberto; LLauger Rossello, Jaume; Smith, Fiona E.; James, Meredith; Mayhew, Anna; Rufibach, Laura; Carlier, Pierre G.; Blamire, Andrew M.; Day, John W.; Jones, Kristi J.; Bharucha-Goebel, Diana X.; Salort-Campana, Emmanuelle; Pestronk, Alan; Walter, Maggie C.; Paradas, Carmen; Stojkovic, Tanya; Mori-Yoshimura, Madoka; Bravver, Elena; Pegoraro, Elena; Mendell, Jerry R.; Bushby, Kate; Straub, Volker und Diaz-Manera, Jordi (16. Dezember 2020): Intensive Teenage Activity Is Associated With Greater Muscle Hyperintensity on T1W Magnetic Resonance Imaging in Adults With Dysferlinopathy. In: Frontiers in Neurology, Bd. 11, 613446: S. 1-9 [PDF, 1MB]

Villar-Quiles, Rocio N.; Hagen, Maja von der; Metay, Corinne; Gonzalez, Victoria; Donkervoort, Sandra; Bertini, Enrico; Castiglioni, Claudia; Chaigne, Denys; Colomer, Jaume; Cuadrado, Maria Luz; Visser, Marianne de; Desguerre, Isabelle; Eymard, Bruno; Goemans, Nathalie; Kaindl, Angela; Lagrue, Emmanuelle; Lutschg, Jurg; Malfatti, Edoardo; Mayer, Michele; Merlini, Luciano; Orlikowski, David; Reuner, Ulrike; Salih, Mustafa A.; Schlotter-Weigel, Beate; Stoetter, Mechthild; Straub, Volker; Topaloglu, Haluk; Urtizberea, J. Andoni; Kooi, Anneke van der; Wilichowski, Ekkehard; Romero, Norma B.; Fardeau, Michel; Bonnemann, Carsten G.; Estournet, Brigitte; Richard, Pascale; Quijano-Roy, Susana; Schara, Ulrike und Ferreiro, Ana (2020): The clinical, histologic, and genotypic spectrum ofSEPN1-related myopathy A case series. In: Neurology, Bd. 95, Nr. 11, E1512-E1527

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

Meinke, Peter; Kerr, Alastair R. W.; Czapiewski, Rafal; de Las Heras, Jose; Dixon, Charles R.; Harris, Elizabeth; Koelbel, Heike; Muntoni, Francesco; Schara, Ulrike; Straub, Volker; Schoser, Benedikt; Wehnert, Manfred und Schirmer, Eric C. (2020): A multistage sequencing strategy pinpoints novel candidate alleles for Emery-Dreifuss muscular dystrophy and supports gene misregulation as its pathomechanism. In: Ebiomedicine, Bd. 51, 102587

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

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

Moore, Ursula; Jacobs, Marni; James, Meredith K.; Mayhew, Anna G.; Fernandez-Torron, Roberto; Feng, Jia; Cnaan, Avital; Eagle, Michelle; Bettinson, Karen; Rufibach, Laura E.; Lofra, Robert Muni; Blamire, Andrew M.; Carlier, Pierre G.; Mittal, Plavi; Lowes, Linda Pax; Alfano, Lindsay; Rose, Kristy; Duong, Tina; Berry, Katherine M.; Montiel-Morillo, Elena; Pedrosa-Hernandez, Irene; Holsten, Scott; Sanjak, Mohammed; Ashida, Ai; Sakamoto, Chikako; Tateishi, Takayuki; Yajima, Hiroyuki; Canal, Aurelie; Ollivier, Gwenn; Decostre, Valerie; Mendez, Juan Bosco; Praxedes, Nieves Sanchez-Aguilera; Thiele, Simone; Siener, Catherine; Shierbecker, Jeanine; Florence, Julaine M.; Vandevelde, Bruno; DeWolf, Brittney; Hutchence, Meghan; Gee, Richard; Pruegel, Juliana; Maron, Elke; Hilsden, Heather; Lochmüller, Hanns; Grieben, Ulrike; Spuler, Simone; Rocha, Carolina Tesi; Day, John W.; Jones, Kristi J.; Bharucha-Goebel, Diana X.; Salort-Campana, Emmanuelle; Harms, Matthew; Pestronk, Alan; Krause, Sabine; Schreiber-Katz, Olivia; Walter, Maggie C.; Paradas, Carmen; Hogrel, Jean-Yves; Stojkovic, Tanya; Takeda, Shin'ichi; Mori-Yoshimura, Madoka; Bravver, Elena; Sparks, Susan; Diaz-Manera, Jordi; Bello, Luca; Semplicini, Claudio; Pegoraro, Elena; Mendell, Jerry R.; Bushby, Kate; Straub, Volker; Arrieta, Adrienne; Hwang, Esther; Lee, Elaine; Illa, Isabel; Gallardo, Eduard; Belmonte Jimeno, Izaskun; Llauger Rossello, Jaume; Harwick, Bruce; Sykes, Jackie; Yetter, Brent; Smith, Mark; Lapeyssonie, Bernard; Bendahan, David; Le Fur, Yann; Shahram, Attarian; Albane, Testot-Ferry; Coppenrath, Eva M.; Harris, Elizabeth; Guglieri, Michela; Evangelista, Teresinha; Murphy, Alex; Moat, Dionne; Hodgson, Tim; Wallace, Dorothy; Ward, Louise; Galley, Debra; Calore, Chiara; Stramare, Roberto; Rampado, Alessandro; Gidaro, Teresa; Turk, Suna; Servais, Laurent; Theis, Cyrille; Diabate, Oumar; Schimmoeller, Linda; Foster, Glenn; Carbonell, Pilar; Cabrera, Macarena; Morgado, Yolanda; Gala, Susana Rico; Perez, Jennifer; Sawyer, Anne Marie; Clarke, Nigel F.; Sandaradura, Sarah; Ghaoui, Roula; Cornett, Kayla; Miller, Claire; Foster, Sheryl; Peduto, Anthony; Sato, Noriko; Tamaru, Takeshi; Kobayashi, Yoko; Ashida, Ai; Nakayama, Takahiro; Segawa, Kazuhiko; Ohtaguro, Sachiko; Nakamura, Harumasa; Ohhata, Maki; Kimura, En; Endo, Makiko; Brody, Nora; Leach, Meganne E.; Toles, Allyn; Fricke, Stanley T. und Otero, Hansel J. (2019): Assessment of disease progression in dysferlinopathy: A 1-year cohort study. In: Neurology, Bd. 92, Nr. 5, E461-E474

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

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

Diaz-Manera, Jordi; Fernandez-Torron, Roberto; LLauger, Jaume; James, Meredith K.; Mayhew, Anna; Smith, Fiona E.; Moore, Ursula R.; Blamire, Andrew M.; Carlier, Pierre G.; Rufibach, Laura; Mittal, Plavi; Eagle, Michelle; Jacobs, Marni; Hodgson, Tim; Wallace, Dorothy; Ward, Louise; Smith, Mark; Stramare, Roberto; Rampado, Alessandro; Sato, Noriko; Tamaru, Takeshi; Harwick, Bruce; Gala, Susana Rico; Turk, Suna; Coppenrath, Eva M.; Foster, Glenn; Bendahan, David; Le Fur, Yann; Fricke, Stanley T.; Otero, Hansel; Foster, Sheryl L.; Peduto, Anthony; Sawyer, Anne Marie; Hilsden, Heather; Lochmüller, Hanns; Grieben, Ulrike; Spuler, Simone; Rocha, Carolina Tesi; Day, John W.; Jones, Kristi J.; Bharucha-Göbel, Diana X.; Salort-Campana, Emmanuelle; Harms, Matthew; Pestronk, Alan; Krause, Sabine; Schreiber-Katz, Olivia; Walter, Maggie C.; Paradas, Carmen; Hogrel, Jean-Yves; Stojkovic, Tanya; Takeda, Shin'ichi; Mori-Yoshimura, Madoka; Bravver, Elena; Sparks, Susan; Bello, Luca; Semplicini, Claudio; Pegoraro, Elena; Mendell, Jerry R.; Bushby, Kate und Straub, Volker (2018): Muscle MRI in patients with dysferlinopathy: pattern recognition and implications for clinical trials. In: Journal of Neurology Neurosurgery and Psychiatry, Bd. 89, Nr. 10: S. 1071-1081 [PDF, 4MB]

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]

Wiessner, Manuela; Roos, Andreas; Munn, Christopher J.; Viswanathan, Ranjith; Whyte, Tamieka; Cox, Dan; Schoser, Benedikt; Sewry, Caroline; Roper, Helen; Phadke, Rahul; Bettolo, Chiara Marini; Barresi, Rita; Charlton, Richard; Bönnemann, Carsten G.; Neto, Osorio Abath; Reed, Umbertina C.; Zanoteli, Edmar; Moreno, Cristiane Araujo Martins; Ertl-Wagner, Birgit; Stucka, Rolf; Goede, Christian de; Silva, Tamiris Borges da; Hathazi, Denisa; Dell'Aica, Margherita; Zahedi, Rene P.; Thiele, Simone; Müller, Juliane; Kingston, Helen; Müller, Susanna; Curtis, Elizabeth; Walter, Maggie C.; Strom, Tim M.; Straub, Volker; Bushby, Kate; Muntoni, Francesco; Swan, Laura E.; Lochmüller, Hanns und Senderek, Jan (2017): Mutations in INPPSK, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment. In: American Journal of Human Genetics, Bd. 100, Nr. 3: S. 523-536 [PDF, 2MB]

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

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

Lukacs, Zoltan; Cobos, Paulina Nieves; Wenninger, Stephan; Willis, Tracey A.; Guglieri, Michela; Roberts, Marc; Quinlivan, Rosaline; Hilton-Jones, David; Evangelista, Teresinha; Zierz, Stephan; Schlotter-Weigel, Beate; Walter, Maggie C.; Reilich, Peter; Klopstock, Thomas; Deschauer, Marcus; Straub, Volker; Müller-Felber, Wolfgang und Schoser, Benedikt (2016): Prevalence of Pompe disease in 3,076 patients with hyperCKemia and limb-girdle muscular weakness. In: Neurology, Bd. 87, Nr. 3: S. 295-298

Ploeg, Ans van der; Carlier, Pierre G.; Carlier, Robert-Yves; Kissel, John T.; Schoser, Benedikt; Wenninger, Stephan; Pestronk, Alan; Barohn, Richard J.; Dimachkie, Mazen M.; Goker-Alpan, Ozlem; Mozaffar, Tahseen; Pena, Loren D. M.; Simmons, Zachary; Straub, Volker; Guglieri, Michela; Young, Peter; Boentert, Matthias; Baudin, Pierre-Yves; Wens, Stephan; Shafi, Raheel; Bjartmar, Carl und Thurberg, Beth L. (2016): Prospective exploratory muscle biopsy, imaging, and functional assessment in patients with late-onset Pompe disease treated with alglucosidase alfa: The EMBASSY Study. In: Molecular Genetics and Metabolism, Bd. 119, Nr. 1-2: S. 115-123

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; 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

McNeill, Alisdair; Birchall, Daniel; Straub, Volker; Goldfarb, Lev; Reilich, Peter; Walter, Maggie C.; Schramm, Nicolai; Lochmueller, Hanns und Chinnery, Patrick F. (2009): Lower Limb Radiology of Distal Myopathy due to the S60F Myotilin Mutation. In: European Neurology, Nr. 3: S. 161-166 [PDF, 198kB]

Diese Liste wurde am Sat Mar 16 20:32:09 2024 CET erstellt.