Mostrando resultados 6 a 12 de 12
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Derechos | Preview | Fecha Public. | Título | Autor(es) | Tipo |
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 | | 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 |
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 |
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 |