| Derechos | Preview | Fecha Public. | Título | Autor(es) | Tipo |
| closedAccess |  | dic-2023 | Ablation of the carboxy-terminal end of MAMDC2 causes a distinct muscular dystrophy | Mavillard, Fabiola CSIC ORCID; Servián Morilla, E. CSIC ORCID; Dofash, Lein; Rojas-Marcos, Iñigo; Folland, Chiara; Monahan, Gavin; Gutierrez-Gutierrez, Gerardo; Rivas, Eloy; Hernández-Laín, Aurelio; Valladares, Amador CSIC; Cantero, Gloria; Morales, Jose M.; Laing, Nigel G.; Paradas, Carmen CSIC ORCID; Ravenscroft, Gianina; Cabrera-Serrano, Macarena CSIC ORCID | artículo |
| openAccess |  | 1-mar-2019 | Altered myogenesis and premature senescence underlie human TRIM32-related myopathy | Servián Morilla, E. CSIC ORCID; Cabrera-Serrano, Macarena CSIC ORCID; Rivas Infante, Eloy; Carvajal, A.; Lamont, P. J.; Pelayo-Negro, Ana L.; Ravenscroft, Gianina; Junckerstorff, R.; Dyke, J. M.; Fletcher, S.; Adams, A. M.; Mavillard, Fabiola CSIC ORCID; Fernández-García, M. A.; Nieto-González, J. CSIC ORCID; Laing, Nigel G.; Paradas, Carmen CSIC ORCID | artículo |
| 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 |
| closedAccess |  | sep-2014 | CSP-alpha is essential to maintain the quiescence of radial-glia like stem cells in postnatal neurogenesis | Nieto-González, J. CSIC ORCID; Gómez-Sánchez, L.; Mavillard, Fabiola CSIC ORCID; Linares-Clemente, P.; Martínez López, José Antonio; Pardal Redondo, Ricardo CSIC ORCID; Fernández-Chacón, Rafael CSIC ORCID | póster de congreso |
| closedAccess |  | ago-2019 | Deoxynucleoside Therapy for Thymidine Kinase 2–Deficient Myopathy | Domínguez‐González, Cristina; Madruga, Marcos CSIC; Mavillard, Fabiola CSIC ORCID; Garone, Caterina; Aguirre-Rodríguez, Francisco Javier; Donati, Maria Alice; Kleinsteuber, Karin; Martí, Itxaso; Martín-Hernández, Elena; Morealejo‐Aycinena, Juan P.; Munell, Francina; Nascimento, Andrés; Kalko, Susana Graciela; Sardina, M. Dolores; Álvarez del Vayo Benito, Concepción CSIC; Serrano, Olga; Long, Yuelin; Tu, Yuqi; Levin, Bruce; Thompson, John L. P.; Engelstad, Kristen; Uddin, Jasim; Torres‐Torronteras, Javier; Jiménez‐Mallebrera, Cecilia; Martí, Ramón; Paradas, Carmen CSIC ORCID; Hirano, Michio | artículo |
| openAccess |  | 22-jun-2020 | Growth Differentiation Factor 15 is a potential biomarker of therapeutic response for TK2 deficient myopathy | Domínguez-Gonzalez, Cristina; Badosa, María Carmen; Madruga, Marcos CSIC; Martí, Itxaso; Paradas, Carmen CSIC ORCID; Ortez, Carlos; Díaz-Manera, Jordi; Berardo, Andrés; Alonso-Pérez, Jorge; Trifunov, Selena; Cuadras, Daniel; Kalko, Susana Graciela; Blázquez-Bermejo, Cora; Cámara, Yolanda; Martí, Ramón; Mavillard, Fabiola CSIC ORCID; Martín, Miguel Ángel; Montoya, Julio; Ruiz-Pesini, Eduardo; Villarroya, Joan; Montero, Raquel; Villarroya, Francesc; Artuch, Rafael; Hirano, Michio; Nascimento, Andrés; Jiménez-Mallebrera, Cecilia | artículo |
| closedAccess |  | feb-2021 | Heterozygous CAPN3 missense variants causing autosomal-dominant calpainopathy in seven unrelated families | González-Mera, Laura; Ravenscroft, Gianina; Cabrera-Serrano, Macarena CSIC ORCID; Ermolova, N.; Domínguez-Gonzalez, Cristina; Arteche-López, A.; Soltanzadeh, P.; Evesson, F.; Navas, C.; Mavillard, Fabiola CSIC ORCID; Clayton, J.; Rodrigo, P.; Servián Morilla, E. CSIC ORCID; Cooper, S. T.; Waddell, L.; Reardon, K.; Corbett, A.; Hernández-Laín, Aurelio; Sánchez, A.; Esteban Pérez, J.; Paradas, Carmen CSIC ORCID; Rivas Infante, Eloy; Spencer, M.; Laing, Nigel G.; Olivé, Montse | artículo |
| closedAccess |  | 16-abr-2019 | Loss of postnatal quiescence of neural stem cells through mTOR activation upon genetic removal of cysteine string protein-α | Nieto-González, J. CSIC ORCID; Gómez-Sánchez, L.; Mavillard, Fabiola CSIC ORCID; Linares-Clemente, P.; Rivero, María; Valenzuela-Villatoro, Marina CSIC; Muñoz-Bravo, José Luis CSIC ORCID CVN; Pardal Redondo, Ricardo CSIC ORCID; Fernández-Chacón, Rafael CSIC ORCID | artículo |
| closedAccess |  | jul-2021 | Novel ANO5 intronic Roma variant alters splicing causing muscular dystrophy | Mavillard, Fabiola CSIC ORCID; Servián Morilla, E. CSIC ORCID; Rivas Infante, Eloy; Paradas, Carmen CSIC ORCID; Cabrera-Serrano, Macarena CSIC ORCID | artículo |
| openAccess |  | 2019 | NOVEL intronic CAPN3 Roma mutation alters splicing causing RNA mediated decay | Mavillard, Fabiola CSIC ORCID; Madruga, Marcos CSIC; Rivas Infante, Eloy; Servián Morilla, E. CSIC ORCID; Ávila Polo, Rainiero CSIC; Marcos Luque, Irene CSIC; Morón, Francisco J. CSIC ORCID CVN; Paradas, Carmen CSIC ORCID; Cabrera-Serrano, Macarena CSIC ORCID | artículo |
