Browsing by Author Amburgey, Kimberly

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Issue DateTitleAuthor(s)Citation
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
2013A novel mutation expands the genetic and clinical spectrum of MYH7-related myopathiesClarke, Nigel; North, Kathryn; Waddell, Leigh; Amburgey, Kimberly; Camelo-Piragua, Sandra; Davis, M; et al, Various; Kesari, Akanchha; Laing, Nigel G; Monnier, Nicole; Punetha, Jaya; Teener, James; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthA novel mutation expands the genetic and clinical spectrum of MYH7-related myopathies, Neuromuscular Disorders, vol.23, 5, 2013,pp 432-436