Browsing by Author Dowling, James

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Issue DateTitleAuthor(s)Citation
2014Approach to the diagnosis of congenital myopathiesClarke, Nigel; North, Kathryn; Amburgey, Kimberley; Beggs, Alan H; Bonnemann, Carsten; Dowling, James; Jungbluth, Heinz; Laing, Nigel G; Quijano-Roy, Susana; Sewry, C; Vainzof, Mariz; Wang, Ching; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthApproach to the diagnosis of congenital myopathies, Neuromuscular Disorders, vol.24, 2, 2014,pp 97-116
2012Consensus Statement on Standard of Care for Congenital MyopathiesClarke, Nigel; Fitzgerald, Dominic; Munns, Craig; North, Kathryn; Rose, Kristy; Amburgey, Kimberly; Apkon, Susan; Bellini, Jonathan; Dowling, James; et al, Various; Guillet, Marc; Schroth, Mary; Sejersen, Thomas; Shapiro, F; Wang, Ching; Weiss, Hali; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: MedicineConsensus Statement on Standard of Care for Congenital Myopathies, Journal of Child Neurology, vol.27, 3, 2012,pp 363-382
2013Genotype-phenotype correlations in recessive RYR1-related myopathiesClarke, Nigel; Hwang, Jean; Amburgey, Kimberly; Bailey, Angela; Bonnemann, Carsten; Callaghan, Brian; Collins, James; Daube, Jasper R; Dowling, James; Mathews, Katherine D; Medne, Livija; Tarnopolsky, Mark A; Wellman, Gregory P; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: MedicineGenotype-phenotype correlations in recessive RYR1-related myopathies, Orphanet Journal of Rare Diseases, vol.8, 1, 2013,pp 1-12
2014Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathyClarke, Nigel; Houweling, Peter; Quinlan (nee Edwards), Kate Gemma; Sandaradura, Sarah; Waddell, Leigh Brook; Yuen, Michaela; Ceyhan-Birsoy, Ozge; Dowling, James; et al, Various; Gokhin, David; Kostyukova, Alla; Lehtokari, Vilma-Lotta; Maluenda, Jérome; Moroz, Natalia; Ravenscroft, Gianina; Todd, Emily; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Northern Clinical School: Paediatrics & Child HealthLeiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy, Journal of Clinical Investigation, vol.124, 11, 2014,pp 4693-4708
2013Neuromuscular junction abnormalities in DNM2-related centronuclear myopathyClarke, Nigel; Oates, Emily; Rose, Kristy; Webster, Richard; Dowling, James; Feldman, Eva; Gibbs, Elizabeth; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Medicine; Children's Hospital Westmead: Paediatrics & Child HealthNeuromuscular junction abnormalities in DNM2-related centronuclear myopathy, Journal of Molecular Medicine (online), vol.91, 6, 2013,pp 727-737