Browsing by Author Bertini, E

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Issue DateTitleAuthor(s)Citation
2011Mosaic Caveolin-3 Expression in Acquired Rippling Muscle Disease Without Evidence of Myasthenia Gravis or Acetylcholine Receptor AutoantibodiesCooper, Sandra; Dale, Russell; Domazetovska, Ana; Lo, Harriet; North, Kathryn; Barresi, Rita; Bertini, E; D'Amico, Adele; Mirabella, Massimiliano; Petrini, Stefania; Roberts, Mark; Straub, Volker; Tasca, Giorgio; Tozzi, Giulia; Valente, Enza Maria; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Childrens Medical Research Ins; Children's Hospital Westmead: Medicine; Children's Hospital Westmead: Paediatrics & Child HealthMosaic Caveolin-3 Expression in Acquired Rippling Muscle Disease Without Evidence of Myasthenia Gravis or Acetylcholine Receptor Autoantibodies, Neuromuscular Disorders, vol.21, 3, 2011,pp 194-203
2014Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathiesClarke, Nigel; Barnerias, C; Beggs, Alan H.; Bertini, E; Ceyhan-Birsoy, Ozge; Cintas, Pascal; et al, Various; Gerard, Marion; Lehtokari, Vilma-Lotta; Marston, Steven; Marttila, Minttu; Nyman, Tuula; Childrens Hospital Westmead: Paediatrics & Child HealthMutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies, Human Mutation, vol.35, 7, 2014,pp 779-790
2013Natural history of pulmonary function in collagen VI-related myopathiesNorth, Kathryn; Bertini, E; Collins, James; D'Amico, Adele; Deconinck, Nicolas; et al, Various; Foley, A Reghan; McCallum, Michelle; Mercuri, Eugenio; Pane, Marika; Quijano-Roy, Susana; Straub, Volker; Children's Hospital Westmead: Paediatrics & Child HealthNatural history of pulmonary function in collagen VI-related myopathies, Brain, vol.136, N/A, 2013,pp 3625-3633