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Browsing by Author Laing, Nigel G.

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RightsPreviewIssue DateTitleAuthor(s)Type
closedAccessaccesoRestringido.pdf.jpg24-Nov-2020A homozygous UBA5 pathogenic variant causes a fatal congenital neuropathyCabrera-Serrano, Macarena; 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, Gianinaartículo
openAccessaltered_myogenesis.pdf.jpg1-Mar-2019Altered myogenesis and premature senescence underlie human TRIM32-related myopathyServián Morilla, E. CSIC; Cabrera-Serrano, Macarena; Rivas Infante, Eloy; Carvajal, A.; Lamont, P. J.; Pelayo-Negro, A. L.; Ravenscroft, Gianina; Junckerstorff, R.; Dyke, J. M.; Fletcher, S.; Adams, A. M.; Mavillard, Fabiola; Fernández-García, M. A.; Nieto-González, J.; Laing, Nigel G.; Paradas, Carmenartículo
openAccesss41467-019-09111-2.pdf.jpg27-Mar-2019Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusionsOlivé, Montse; Engvall, Martin; Ravenscroft, Gianina; Cabrera-Serrano, Macarena; 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
openAccessAustralasian_referral.pdf.jpgMar-2020Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experienceBeecroft, 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; Nowak, Kristen J.; Pachter, Nicholas; Ravenscroft, Gianina; Lamont, P. J.; Davis, Mark R.; Laing, Nigel G.artículo