| Derechos | Preview | Fecha Public. | Título | Autor(es) | Tipo |
| closedAccess |  | 24-nov-2020 | A homozygous UBA5 pathogenic variant causes a fatal congenital neuropathy | Cabrera-Serrano, Macarena CSIC ORCID; Coote, David Joseph; Azmanov, Dimitar; Goullee, Hayley; Andersen, Erik; McLean, Catriona; Davis, Mark R.; Ishimura, Ryosuke; Stark, Zornitza; Vallat, Jean-Michel; Komatsu, Masaaki; Kornberg, Andrew; Ryan, Monique; Laing, Nigel G.; Ravenscroft, Gianina | artículo |
| closedAccess |  | 1-abr-2023 | A KLHL40 3' UTR splice-altering variant causes milder NEM8, an under-appreciated disease mechanism | Dofash, Lein N. H.; Monahan, Gavin V.; Servián Morilla, E. CSIC ORCID; Rivas Infante, Eloy; Faiz, Fathimath; Sullivan, Patricia; Oates, Emily; Clayton, Joshua; Taylor, Rhonda L.; Davis, Mark R.; Beilharz, Traude; Laing, Nigel G.; Cabrera-Serrano, Macarena CSIC ORCID; Ravenscroft, Gianina | artículo |
| openAccess |  | 10-ago-2022 | A KLHL40 3’ UTR splice-altering variant causes milder NEM8, an under-appreciated disease mechanism | Dofash, Lein N. H.; Monahan, Gavin V.; Servián Morilla, E. CSIC ORCID; Rivas Infante, Eloy; Faiz, Fathimath; Sullivan, Patricia; Oates, Emily; Clayton, Joshua; Taylor, Rhonda L.; Davis, Mark R.; Beilharz, Traude; Laing, Nigel G.; Cabrera-Serrano, Macarena CSIC ORCID; Ravenscroft, Gianina | preprint |
| 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 |  | 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 |
| 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 |  | 1-oct-2022 | Recent advances in our understanding of genetic rhabdomyolysis | Cabrera-Serrano, Macarena CSIC ORCID; Ravenscroft, Gianina | artículo de revisión |
| openAccess |  | mar-2020 | Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experience | Beecroft, Sarah J.; Yau, Kyle S.; Allcock, Richard J. N.; Mina, Kym; Gooding, Rebecca; Faiz, Fathimath; Atkinson, Vanessa J.; Wise, Cheryl; Sivadorai, Padma; Trajanoski, Daniel; Kresoje, Nina; Ong, Royston; Duff, Rachael, M.; Cabrera-Serrano, Macarena CSIC ORCID; Nowak, Kristen J.; Pachter, Nicholas; Ravenscroft, Gianina; Lamont, P. J.; Davis, Mark R.; Laing, Nigel G. | artículo |
