Browsing by Author Ilkovski, B

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Issue DateTitleAuthor(s)Citation
2006Autosomal dominant nemaline myopathy with intranuclear rods due to mutation of the skeletal muscle ACTA1 gene: Clinical and pathological variability within a kindred.Ilkovski, B; North, Kathryn; Charlton, Amanda; Hutchinson, David O.; Laing, Nigel G.; Children's Hospital Westmead: Childrens Medical Research Ins; Children's Hospital Westmead: Paediatrics & Child HealthAutosomal dominant nemaline myopathy with intranuclear rods due to mutation of the skeletal muscle ACTA1 gene: Clinical and pathological variability within a kindred., Neuromuscular Disorders, vol.16,(2),2006,pp 113-121
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
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
2006Investigating the pathogenesis of ACTA1-related congenital fibre type disproportionClarke, Nigel; Ilkovski, B; North, Kathryn; Feng, Juan-Juan; Marston, Steven; Nonaka, I; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Childrens Medical Research Ins; Children's Hospital Westmead: Paediatrics & Child HealthInvestigating the pathogenesis of ACTA1-related congenital fibre type disproportion, Neuromuscular Disorders, vol.16,(Supplement 1),2006,pp s61-s61
2013K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivityClarke, Nigel; Ilkovski, B; Jeffries, Cy; Kreissl, Michaela; Mokbel, Nancy; North, Kathryn; Trewhella, Jill; Yang, Nan; Echaniz-Laguna, Andoni; Gronholm, Mikaela; Laing, Nigel G; Lehtokari, Vilma-Lotta; Lemola, Elina; Marcorelles, Pascale; Marston, Steven; Marttila, Minttu; McNamara, Elyshia; Memo, Massimiliano; Menard, Dominique; Monnier, Nicole; Nowak, Kristen J; Ottenheijm, Coen; Ravenscroft, Gianina; Reimann, Jens; Vainzof, Mariz; Wallgren-Pettersson, Carina; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Childrens Medical Research Ins; Molecular Bioscience; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Molecular Bioscience; Children's Hospital Westmead: Paediatrics & Child HealthK7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity, Brain, vol.136, 2, 2013,pp 494-507
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
2015Recessive ACTA1 variant causes congenital muscular dystrophy with rigid spineBest, Heather; Clarke, Nigel; Ilkovski, B; North, Kathryn; Oates, Emily; O'Grady, Gina Louise; Brammah, Susan; Charlton, Amanda; Hoffman, Eric P; Kaur, Simranpreet; Kesari, Akanchha; Punetha, Jaya; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Childrens Medical Research Ins; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthRecessive ACTA1 variant causes congenital muscular dystrophy with rigid spine, European Journal of Human Genetics, vol.23, 6, 2015,pp 883-886
2007Tropomyosin 4 defines novel filaments in skeletal muscle associated with muscle remodelling/regeneration in normal and diseased muscleGunning, Peter; Hardeman, Edna; Ilkovski, B; Kee, Anthony; North, Kathryn; Schevzov, Galina; Artap, Stanley T; Joya, Josephine; Nair-Shalliker, Visalini; Vlahovich, Nicole; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Childrens Medical Research Ins; Children's Hospital Westmead: Childrens Medical Research Ins; Exercise & Sport Science; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthTropomyosin 4 defines novel filaments in skeletal muscle associated with muscle remodelling/regeneration in normal and diseased muscle, Cell Motility and the Cytoskeleton, vol.65,(online 29 Oct 2007),2007,pp 73-85
2006Unravelling the thin filament: mechanisms of weakness in inherited muscle diseaseCooper, Sandra; Domazetovska, A; Gunning, Peter; Hardeman, Edna; Hook, Jeff; Ilkovski, B; Lemckert, Frank; North, Kathryn; Robinson, Phillip; Yang, Nan; Valova, Valentina A; 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; Western Clinical School: Medicine (Westmead); Children's Hospital Westmead: Childrens Medical Research Ins; Biological Sciences; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Childrens Medical Research Ins; Children's Hospital Westmead: Childrens Medical Research InsUnravelling the thin filament: mechanisms of weakness in inherited muscle disease, Neuromuscular Disorders, vol.16,(Sup. 1),2006,pp S60-S61