Browsing by Author Bonnemann, Carsten

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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
2014Endogenous Glucuronyltransferase Activity of LARGE or LARGE2 Required for Functional Modification of alpha-dystroglycan in Cells and TissuesClarke, Nigel; Anderson, Mary E; Bonnemann, Carsten; Campbell, Kevin; Guicheney, Pascale; Hara, Yuji; Inamori, Kei-ichiro; Moore, Steven A; Venzke, David; Willer, Tobias; Childrens Hospital Westmead: Paediatrics & Child HealthEndogenous Glucuronyltransferase Activity of LARGE or LARGE2 Required for Functional Modification of alpha-dystroglycan in Cells and Tissues, The Journal of Biological Chemistry, vol.289, 41, 2014,pp 28138-28148
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
2011A study of FHL1, BAG3, MATR3, PTRF and TCAP in Australian muscular dystrophy patientsClarke, Nigel; Evesson, Frances Jane; Lek, Monkol; North, Kathryn; Tran, Jenny; Waddell, Leigh Brook; Wang, Min-Xia; Zheng, Xi; Arbuckle, Susan; Bonnemann, Carsten; Hu, Ying; Smith, Robert; 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: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Central Clinical School: Medicine; Children's Hospital Westmead: Paediatrics & Child HealthA study of FHL1, BAG3, MATR3, PTRF and TCAP in Australian muscular dystrophy patients, Neuromuscular Disorders, vol.21, 11, 2011,pp 776-781