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Gruppiert nach: Dokumententyp | Veröffentlichungsdatum
Anzahl der Publikationen: 9

Zeitschriftenartikel

Schiava, Marianela ORCID logoORCID: https://orcid.org/0000-0002-2709-265X; Ikenaga, Chiseko; Villar-Quiles, Rocío Nur; Caballero-Ávila, Marta ORCID logoORCID: https://orcid.org/0000-0001-9850-8504; Topf, Ana; Nishino, Ichizo ORCID logoORCID: https://orcid.org/0000-0001-9452-112X; Kimonis, Virginia; Udd, Bjarne; Schoser, Benedikt ORCID logoORCID: https://orcid.org/0000-0002-2757-8131; Zanoteli, Edmar ORCID logoORCID: https://orcid.org/0000-0002-4991-6760; Sgobbi Souza, Paulo Victor ORCID logoORCID: https://orcid.org/0000-0002-7416-7108; Tasca, Giorgio ORCID logoORCID: https://orcid.org/0000-0003-0849-9144; Lloyd, Thomas; Lopez-de Munain, Adolfo; Paradas, Carmen; Pegoraro, Elena ORCID logoORCID: https://orcid.org/0000-0002-7740-4156; Nadaj-Pakleza, Aleksandra; De Bleecker, Jan; Badrising, Umesh; Alonso-Jiménez, Alicia; Kostera-Pruszczyk, Anna; Miralles, Francesc; Shin, Jin-Hong ORCID logoORCID: https://orcid.org/0000-0002-5174-286X; Bevilacqua, Jorge Alfredo; Olivé, Montse; Vorgerd, Matthias; Kley, Rudi; Brady, Stefen; Williams, Timothy; Domínguez-González, Cristina ORCID logoORCID: https://orcid.org/0000-0001-5151-988X; Papadimas, George K.; Warman-Chardon, Jodi; Claeys, Kristl G. ORCID logoORCID: https://orcid.org/0000-0001-9937-443X; de Visser, Marianne; Muelas, Nuria; LaForet, Pascal; Malfatti, Edoardo; Alfano, Lindsay N. ORCID logoORCID: https://orcid.org/0000-0002-2263-7569; Nair, Sruthi S ORCID logoORCID: https://orcid.org/0000-0001-5463-5229; Manousakis, Georgios; Kushlaf, Hani A.; Harms, Matthew B.; Nance, Christopher; Ramos-Fransi, Alba; Rodolico, Carmelo; Hewamadduma, Channa; Cetin, Hakan ORCID logoORCID: https://orcid.org/0000-0001-9009-7261; García-García, Jorge; Pál, Endre; Farrugia, Maria Elena; Lamont, Phillipa J.; Quinn, Colin; Nedkova-Hristova, Velina; Peric, Stojan; Luo, Sushan ORCID logoORCID: https://orcid.org/0000-0002-9033-7568; Oldfors, Anders; Taylor, Kate; Ralston, Stuart; Stojkovic, Tanya; Weihl, Conrad ORCID logoORCID: https://orcid.org/0000-0002-3816-6124 und Diaz-Manera, Jordi ORCID logoORCID: https://orcid.org/0000-0003-2941-7988 (2022): Genotype–phenotype correlations in valosin-containing protein disease: a retrospective muticentre study. In: Journal of Neurology, Neurosurgery & Psychiatry, Bd. 93, Nr. 10: S. 1099-1111

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

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

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]

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

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

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]

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]

Diese Liste wurde am Sat Mar 23 23:34:13 2024 CET erstellt.