| Derechos | Preview | Fecha Public. | Título | Autor(es) | Tipo |
| closedAccess |  | sep-2023 | Anoctamin-5 related muscle disease: clinical and genetic findings in a large European cohort | Bruyn, Alexander de; Montagnese, Federica; Holm-Yildiz, Sonja; Poulsen, Nanna Scharff; Stojkovic, Tanya; Behin, Anthony; Palmio, Johanna; Jokela, Manu; Bleecker, Jan L. De; Visser, Marianne de; Kooi, Anneke J. van der; Dam, Leroy ten; Domínguez González, Cristina; Maggi, Lorenzo; Gallone, Annamaria; Kostera-Pruszczyk, Anna; Macias, Anna; Łusakowska, Anna; Nedkova, Velina; Olive, Montse; Álvarez-Velasco, Rodrigo; Wanschitz, Julia; Paradas, Carmen CSIC ORCID; Mavillard, Fabiola CSIC ORCID; Querin, Giorgia; Fernández-Eulate, Gorka; Quinlivan, Ros; Walter, Maggie C.; Depuydt, Christophe E.; Udd, Bjarne; Vissing, John; Schoser, Benedikt; Claeys, Kristl G. | artículo |
| openAccess |  | 27-jul-2022 | Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study | 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; López de Munain, Adolfo; Paradas, Carmen CSIC ORCID; Pegoraro, Elena; Nadaj-Pakleza, Aleksandra; De Bleecker, Jan; Badrising, Umesh; Alonso, Alicia CSIC ORCID; Kostera-Pruszczyk, Anna; Miralles, Francesc; Shin, Jin-Hong; Bevilacqua, Jorge Alfredo; Olivé, Montse; Vorgerd, Matthias; Kley, Rudi; Brady, Stefen; Williams, Timothy; Domínguez-Gonzalez, Cristina; Papadimas, George K.; Warman-Chardon, Jodi; Claeys, Kristl G.; Visser, Marianne de; 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, Velina; Peric, Stojan; Luo, Sushan; Oldfors, Anders; Taylor, Kate; Ralston, Stuart; Stojkovic, Tanya; Weihl, Conrad; Díaz-Manera, Jordi; VCP International Study Group | artículo |
| openAccess |  | 27-mar-2019 | Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions | Olivé, Montse; Engvall, Martin; Ravenscroft, Gianina; Cabrera-Serrano, Macarena CSIC ORCID; Jiao, Hong; Bortolotti, Carlo Augusto; Pignataro, Marcello; Lambrughi, Matteo; Jiang, Haibo; Forrest, Alistair R. R.; Benseny-Cases, N.; Hofbauer, Stefan; Obinger, Christian; Battistuzzi, Gianantonio; Bellei, Marzia; Borsari, Marco; Di Rocco, Giulia; Viola, Helena M.; Hool, Livia C.; Cladera, Josep; Lagerstedt-Robinson, Kristina; Xiang, Fengqing; Wredenberg, Anna; Miralles, Frances; Baiges, Juan José; Malfatti, Edoardo; Romero, Norma B.; Streichenberger, Nathalie; Vial, Christophe; Claeys, Kristl G.; Straathof, Chiara S. M.; Goris, An; Freyer, Christoph; Lammens, Martin; Bassez, Guillaume; Kere, Juha; Clemente, Paula; Sejersen, Thomas; Udd, Bjarne; Vidal, Noemí; Ferrer, Isidro; Edström, Lars; Wedell, Anna; Laing, Nigel G. | artículo |
| closedAccess |  | mar-2020 | POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, α-dystroglycan hypoglycosylation and a distinctive radiological pattern | Servián Morilla, E. CSIC ORCID; Cabrera-Serrano, Macarena CSIC ORCID; Johnson, K.; Pandey, A.; Ito, A.; Rivas Infante, Eloy; Chamova, T.; Muelas, Nuria; Mongini, T.; Nafissi, S.; Claeys, Kristl G.; Grewal, R. P.; Takeuchi, M.; Hao, H.; Bönnemann, C.; Lopes Abath Neto, O.; Medne, L.; Brandsema, J.; Töpf, A.; Taneva, A.; Vilchez, J. J.; Tournev, I.; Haltiwanger, R. S.; Takeuchi, H.; Jafar-Nejad, H.; Straub, Volker; Paradas, Carmen CSIC ORCID | artículo |
