Browsing by Author Cooper, Sandra

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Issue DateTitleAuthor(s)Citation
2006Aberrant dysferlin trafficking in cells lacking caveolin or expressing dystrophy mutants of caveolin-3.Cooper, Sandra; Lo, Harriet; North, Kathryn; Bushby, Kate; Hernandez-Deviez, Delia J.; Laval, Steven H.; Martin, Sally; Parton, Robert G.; Western Clinical School: Medicine (Westmead); Medicine; Children's Hospital Westmead: Paediatrics & Child HealthAberrant dysferlin trafficking in cells lacking caveolin or expressing dystrophy mutants of caveolin-3., Human Molecular Genetics, 2005, vol.15,(1),2006,pp 129-142
2005An alphaTropomyosin mutation alters dimer preference in nemaline myopathy.Cooper, Sandra; Corbett, Mark; Domazetovska, A; Gunning, Peter; Hardeman, Edna; North, Kathryn; Akkari, Anthony; Laing, Nigel G.; Western Clinical School: Medicine (Westmead); Children's Hospital Westmead: Childrens Medical Research Ins; Children's Hospital Westmead: Childrens Medical Research Ins; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Childrens Medical Research Ins; Children's Hospital Westmead: Paediatrics & Child HealthAn alphaTropomyosin mutation alters dimer preference in nemaline myopathy., Annals of Neurology, vol.57,(1),2005,pp 42-49
2014Alternate Splicing of Dysferlin C2A Confers Ca(2+)-Dependent and Ca(2+)-Independent Binding for Membrane RepairCooper, Sandra; Redpath, Gregory Michael Ian; Fuson, Kerry; Hinderliter, Anne; Mahling, Ryan; Meyer, Austin; Nayak, Kamakshi; Rice, Anne; Shanbhogue, Prajna; Snow, Adam; Sutton, Bryan; Childrens Hospital Westmead: Paediatrics & Child Health; Northern Clinical School: Paediatrics & Child HealthAlternate Splicing of Dysferlin C2A Confers Ca(2+)-Dependent and Ca(2+)-Independent Binding for Membrane Repair, Structure, vol.22, 1, 2014,pp 104-115
2004C2C12 Co-Culture On A Fibroblast Substratum Enables Sustained Survival Of Contractile, Highly Differentiated Myotubes With Peripheral Nuclei And Adult Fast Myosin Expression.Alexander, Ian; Allen, David; Cooper, Sandra; Ghoddusi, M; Hardeman, Edna; Kizana, Eddy; Maxwell, Anthony; North, Kathryn; Children's Hospital Westmead: Paediatrics & Child Health; School of Medical Sciences: Physiology; Western Clinical School: Medicine (Westmead); Medicine; Children's Hospital Westmead: Childrens Medical Research Ins; Western Clinical School: Medicine (Westmead); FMO Security Patrol & Emergncy; Children's Hospital Westmead: Paediatrics & Child HealthC2C12 Co-Culture On A Fibroblast Substratum Enables Sustained Survival Of Contractile, Highly Differentiated Myotubes With Peripheral Nuclei And Adult Fast Myosin Expression., Cell Motility and the Cytoskeleton, vol.58,(3),2004,pp 200-211
2014Calpain cleavage within dysferlin exon 40a releases a synaptotagmin-like module for membrane repairCooper, Sandra; Lek, Angela; Lemckert, Frances; Piper, Ann-Katrin; Redpath, Gregory Michael Ian; Woolger, Natalie; Greer, Peter; North, Kathryn; 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 Health; Western Clinical School: Westmead Millennium InstituteCalpain cleavage within dysferlin exon 40a releases a synaptotagmin-like module for membrane repair, Molecular Biology of the Cell, vol.25, 19, 2014,pp 3037-3048
2013Calpains, Cleaved Mini-DysferlinC72, and L-Type Channels Underpin Calcium-Dependent Muscle Membrane RepairCooper, Sandra; Evesson, Frances; Lek, Angela; Lemckert, Frances; North, Kathryn; Redbath, Gregory M I; Lueders, Ann-Katrin; Turnbull, Lynne; Whitchurch, Cynthia B; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Medicine; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Northern Clinical School: Paediatrics & Child HealthCalpains, Cleaved Mini-DysferlinC72, and L-Type Channels Underpin Calcium-Dependent Muscle Membrane Repair, The Journal of neuroscience : the official journal of the Society for Neuroscience, vol.33, 12, 2013,pp 5085-5094
2005Defining alpha-skeletal and alpha-cardiac actin expression in human heart and skeletal muscle explains the absence of cardiac involvement in ACTA1 nemaline myopathy.Cooper, Sandra; Ilkovski, B; North, Kathryn; Clement, Sophie; Sewry, Caroline; Western Clinical School: Medicine (Westmead); Children's Hospital Westmead: Childrens Medical Research Ins; Children's Hospital Westmead: Paediatrics & Child HealthDefining alpha-skeletal and alpha-cardiac actin expression in human heart and skeletal muscle explains the absence of cardiac involvement in ACTA1 nemaline myopathy., Neuromuscular Disorders, vol.15,(12),2005,pp 829-835
2007Dystrophinopathy carrier determination and detection of protein deficiencies in muscular dystrophy using lentiviral MyoD-forced myogenesisAlexander, Ian; Cooper, Sandra; Lo, Harriet; North, Kathryn; Kizana, Eddy; Wu, Zhan; Yang, Nan; Yates, Jonathon D.; Children's Hospital Westmead: Paediatrics & Child Health; Western Clinical School: Medicine (Westmead); Medicine; Children's Hospital Westmead: Paediatrics & Child HealthDystrophinopathy carrier determination and detection of protein deficiencies in muscular dystrophy using lentiviral MyoD-forced myogenesis, Neuromuscular Disorders, vol.17,(4),2007,pp 276-284
2004Evidence For A Dominant-Negative Effect In Acta1 Nemaline Myopathy Caused By Abnormal Folding, Aggregation And Altered Polymerization Of Mutant Actin Isoforms.Cooper, Sandra; Domazetovska, A; Ilkovski, B; North, Kathryn; Clement, Sophie; Davies, Kay E; Laing, Nigel G; Maxwell, Adam L; Nowak, Kristen J; Western Clinical School: Medicine (Westmead); Children's Hospital Westmead: Childrens Medical Research Ins; Children's Hospital Westmead: Childrens Medical Research Ins; Children's Hospital Westmead: Paediatrics & Child HealthEvidence For A Dominant-Negative Effect In Acta1 Nemaline Myopathy Caused By Abnormal Folding, Aggregation And Altered Polymerization Of Mutant Actin Isoforms., Human Molecular Genetics, vol.13,(16),2004,pp 1727-1743
2004Expression Of Aquaporin 1 In Human Cardiac And Skeletal Muscle.Au, Carol; Compton, A; Cooper, Sandra; Lo, Harriet; North, Kathryn; Winlaw, David; Wintour, Marelyn; Yang, Nan; Molecular & Microbial Bioscien; Children's Hospital Westmead: Childrens Medical Research Ins; Western Clinical School: Medicine (Westmead); Medicine; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; MedicineExpression Of Aquaporin 1 In Human Cardiac And Skeletal Muscle., Journal of molecular and cellular cardiology, vol.36,(5),2004,pp 655-662
2012Ferlins: regulators of vesicle fusion for auditory neurotransmission, receptor trafficking and membrane repairCooper, Sandra; Evesson, Frances; Lek, Angela; North, Kathryn; Sutton, Bryan; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Medicine; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthFerlins: regulators of vesicle fusion for auditory neurotransmission, receptor trafficking and membrane repair, Traffic (Malden), vol.13, 2, 2012,pp 185-194
2010In Vitro Analysis of Rod Composition and Actin Dynamics in Inherited Myopathies.Cooper, Sandra; Domazetovska, Ana; Mokbel, Nancy; North, Kathryn; Ilkovski, Biljana; Vandebrouck, Aurelie; Western Clinical School: Medicine (Westmead); Children's Hospital Westmead: Childrens Medical Research Ins; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthIn Vitro Analysis of Rod Composition and Actin Dynamics in Inherited Myopathies., Journal of neuropathology and experimental neurology, vol.69, 5,pp 429-441
2007Intranuclear rod myopathy: molecular pathogenesis and mechanisms of weaknessCooper, Sandra; Domazetovska, A; North, Kathryn; Hutchinson, David O.; Ilkovski, Biljana; Kumar, Vikash; Peckham, Michelle; Robinson, Phillip James; Sparrow, John C; Valova, Valentina A; Vandebrouck, Aurelie; Western Clinical School: Medicine (Westmead); Children's Hospital Westmead: Childrens Medical Research Ins; Children's Hospital Westmead: Paediatrics & Child HealthIntranuclear rod myopathy: molecular pathogenesis and mechanisms of weakness, Annals of Neurology, vol.62,(6),2007,pp 597-608
2007Mechanisms underlying intranuclear rod formationCooper, Sandra; Domazetovska, A; Gunning, Peter; Hardeman, Edna; North, Kathryn; Bamburg, James R.; Ghoddusi, Majid; Ilkovski, Biljana; Minamide, Laurie S.; Western Clinical School: Medicine (Westmead); Children's Hospital Westmead: Childrens Medical Research Ins; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Childrens Medical Research Ins; Children's Hospital Westmead: Paediatrics & Child HealthMechanisms underlying intranuclear rod formation, Brain (2005), vol.130,(12),2007,pp 3275-3284
2015Membrane Repair: Mechanisms and PathophysiologyCooper, Sandra; McNeil, Paul L; Childrens Hospital Westmead: Paediatrics & Child HealthMembrane Repair: Mechanisms and Pathophysiology, Physiological Reviews, vol.95, 4, 2015,pp 1205-1240
2015Muscle weakness in TPM3-myopathy is due to reduced Ca2+-sensitivity and impaired acto-myosin cross-bridge cycling in slow fibresClarke, Nigel; Cooper, Sandra; North, Kathryn; Yuen, Michaela; de Winter, Josine Marieke; et al, Various; Ilkovski, Biljana; Marston, Steve B.; McNamara, Elyshia; Mokbel, Nancy; Nowak, Kristen J; Ravenscroft, Gianina; Rendu, John; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Northern Clinical School: Paediatrics & Child HealthMuscle weakness in TPM3-myopathy is due to reduced Ca2+-sensitivity and impaired acto-myosin cross-bridge cycling in slow fibres, Human Molecular Genetics, vol.24, 22, 2015,pp 6278-9622
2015Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemiaAlexander, Stephen; Christodoulou, John; Cooper, Sandra; Davis, Ryan; Menezes, Minal; Riley, Lisa; Sue, Carolyn; Arbuckle, Susan; Dong, Daoyuan; Glessner, Joseph; Guo, Yiran; Hakonarson, Haron; Keating, Brendan; Kirwan, Paul; Li, Jiankang; Li, Zhijun; Thorburn, David; Xu, Xun; Zhang, Jianguo; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Northern Clinical School: Kolling Institute; Childrens Hospital Westmead: Paediatrics & Child Health; Vet Science Faculty; Northern Clinical School: MedicineMutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemia, Human Molecular Genetics, vol.24, 8, 2015,pp 2297-2307
2013Mutations in CYC1, encoding cytochrome c1 subunit of respiratory chain complex III, cause insulin-responsive hyperglycemiaChristodoulou, John; Cooper, Sandra; Menezes, Minal; Abida, Heni; Bayot, Aurelien; et al, Various; Gaignard, Pauline; Gilleron, Mylene; Lombes, Anne; Oiger de Baulny, Helene; Rak, Malgorzata; Schiff, Manuel; Su, Chen-Hsien; Tzagoloff, Alexander; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthMutations in CYC1, encoding cytochrome c1 subunit of respiratory chain complex III, cause insulin-responsive hyperglycemia, American Journal of Human Genetics, vol.93, 2, 2013,pp 384-389
2007The pathogenesis of ACTA1-related congenital fiber type disproportionClarke, Nigel; Cooper, Sandra; Ilkovski, B; North, Kathryn; Feng, Juan-Juan; Marston, Steven; Nonaka, Ikuya; Robinson, Phillip James; Valova, Valentina A; Children's Hospital Westmead: Paediatrics & Child Health; Western Clinical School: Medicine (Westmead); Children's Hospital Westmead: Childrens Medical Research Ins; Children's Hospital Westmead: Paediatrics & Child HealthThe pathogenesis of ACTA1-related congenital fiber type disproportion, Annals of Neurology, vol.61,(6),2007,pp 552-561
2013Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemiaChristodoulou, John; Cooper, Sandra; Menezes, Minal; Riley, Lisa; Tchan, Michel; Davis, Mark; de Lonlay, Pascale; Duff, Rachael; Rotig, Agnes; Rudinger-Thirion, Joelle; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Vet Science Faculty; Western Clinical School: Medicine (Westmead)Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia, Orphanet Journal of Rare Diseases, vol.8, 1, 2013,pp 1-11