| Derechos | Preview | Fecha Public. | Título | Autor(es) | Tipo |
| openAccess |  | 29-ene-2019 | Assessment of disease progression in dysferlinopathy. A 1-year cohort study | Moore, Ursula; Jacobs, Marni; James, Meredith K.; Mayhew, Anna G.; Fernández-Torrón, Roberto; Feng, Jia; Cnaan, Avital; Eagle, Michelle; Bettinson, Karen; Rufibach, Laura E.; Muni Lofra, Robert; Blamire, Andrew M.; Carlier, Pierre G.; Mittal, Plavi; Lowes, Linda Pax; Alfano, Lindsay; Rose, Kristy; Duong, Tina; Berry, Katherine M.; Montiel-Morillo, Elena; Pedrosa-Hernández, Irene; Holsten, Scott; Sanjak, Mohammed; Ashida, Ai; Sakamoto, Chikako; Tateishi, Takayuki; Yajima, Hiroyuki; Canal, Aurélie; Ollivier, Gwenn; Decostre, Valerie; Méndez, Juan Bosco; Sánchez-Aguilera Praxedes, Nieves; Thiele, Simone; Siener, Catherine; Shierbecker, Jeanine; Florence, Julaine M.; Vandevelde, Bruno; DeWolf, Brittney; Hutchence, Meghan; Gee, Richard; Prügel, 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; Matthew, Harms; Pestronk, Alan; Krause, Sabine; Schreiber-Katz, Olivia; Walter, Maggie C.; Paradas, Carmen CSIC ORCID; Hogrel, Jean-Yves; Stojkovic, Tanya; Takeda, Shin'ichi; Mori-Yoshimura, Madoka; Bravver, Elena; Sparks, Susan; Díaz-Manera, Jordi; Bello, Luca; Semplicini, Claudio; Pegoraro, Elena; Mendell, Jerry W.; Bushby, Kate; Straub, Volker | artículo |
| openAccess |  | may-2022 | Cardiac and pulmonary findings in dysferlinopathy: A 3-year, longitudinal study | Moore, Ursula; Fernández-Torrón, Roberto; Jacobs, Marni; Gordish, Heather; Díaz-Manera, Jordi; James, Meredith K.; Mayhew, Anna G.; Harris, Elizabeth; Guglieri, Michela; Rufibach, Laura E.; Feng, Jia; 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 CSIC ORCID; Stojkovic, Tanya; Mori-Yoshimura, Madoka; Bravver, Elena; Pegoraro, Elena; Lowes, Linda Pax; Mendell, Jerry R.; Bushby, Kate; Bourke, John; Straub, Volker | artículo |
| closedAccess |  | 17-mar-2020 | Clinical and therapeutic features of myasthenia gravis in adults based on age at onset | Cortés-Vicente, Elena; Álvarez-Velasco, Rodrigo; Segovia, Sonia; Paradas, Carmen CSIC ORCID; Casasnovas, Carlos; Guerrero-Sola, Antonio; Pardo, Julio; Ramos-Fransi, Alba; Sevilla, Teresa; López de Munain, Adolfo; Gómez, María Teresa; Jericó, Ivonne; Gutiérrez-Gutiérrez, Gerardo; Pelayo-Negro, Ana L.; Martín, María Asunción; Mendoza, María Dolores; Moris, Germán; Rojas-García, Ricard; Díaz-Manera, Jordi; Querol, Luis; Gallardo, Eduard; Vélez Gómez, Beatriz CSIC ORCID; Albertí, María Antonia; Galán, Lucía; García-Sobrino, Tania; Martínez-Piñeiro, Alicia; Lozano-Veintimilla, Ana; Fernández-Torrón, Roberto; Cano-Abascal, Ángel; Illa, Isabel | artículo |
| openAccess |  | 16-dic-2020 | Intensive Teenage Activity Is Associated With Greater Muscle Hyperintensity on T1W Magnetic Resonance Imaging in Adults With Dysferlinopathy | Moore, Ursula; Jacobs, Marni; Fernández-Torrón, Roberto; Llauger Rossello, Jaume; Smith, Fiona E.; James, Meredith K.; Mayhew, Anna G.; Rufibach, Laura E.; 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 CSIC ORCID; Mori-Yoshimura, Madoka; Bravver, Elena; Pegoraro, Elena; Mendell, Jerry W.; Bushby, Kate; Straub, Volker; Díaz-Manera, Jordi | artículo |
| openAccess |  | 6-may-2019 | Late-onset thymidine kinase 2 deficiency: a review of 18 cases | Domínguez-Gonzalez, Cristina; Hernández-Laín, Aurelio; Riva, Eloy; Hernández-Voth, Ana; Sayas Catalán, Javier; Fernández-Torrón, Roberto; Fuiza-Luces, Carmen; García-García, Jorge; Moris, Germán; Olivé, Montse; Miralles, Frances; Díaz-Manera, Jordi; Caballero-Eraso, Candela CSIC ORCID; Méndez-Ferrer, Bosco; Martí, Ramón; García Arumi, Elena; Badosa, María Carmen; Esteban, Jesús; Jiménez-Mallebrera, Cecilia; Blázquez Encinar, Alberto; Arenas, Joaquín; Hirano, Michio; Martín, Miguel Ángel; Paradas, Carmen CSIC ORCID | artículo |
| openAccess |  | abr-2021 | Miyoshi myopathy and limb girdle muscular dystrophy R2 are the same disease | Moore, Ursula; Gordish, Heather; Díaz-Manera, Jordi; James, Meredith K.; Mayhew, Anna G.; Guglieri, Michela; Fernández-Torrón, Roberto; Rufibach, Laura E.; Feng, Jia; 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 CSIC ORCID; Stojkovic, Tanya; Mori-Yoshimura, Madoka; Bravver, Elena; Pegoraro, Elena; Lowes, Linda Pax; Mendell, Jerry R.; Bushby, Kate; Straub, Volker | artículo |
| openAccess |  | jul-2022 | Muscle MRI characteristic pattern for late-onset TK2 deficiency diagnosis | Domínguez-Gonzalez, Cristina; Fernández-Torrón, Roberto; Moore, Ursula; Fuenmayor-Fernández de la Hoz, Carlos Pablo de; Vélez Gómez, Beatriz CSIC ORCID; Cabezas, Juan A. CSIC ORCID; Alonso-Pérez, Jorge; González-Mera, Laura; Olivé, Montse; García-García, Jorge; Moris, Germán; León Hernández, Juan Carlos; Muelas, Nuria; Servián Morilla, E. CSIC ORCID; Martín, Miguel Ángel; Díaz-Manera, Jordi; Paradas, Carmen CSIC ORCID | artículo |
