Browsing by Author Ilkovski, Biljana

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Issue DateTitleAuthor(s)Citation
2008Disease Severity and Thin Filament Regulation in M9R TPM3 Nemaline MyopathyCooper, Sandra; Domazetovska, Ana; Mokbel, Nancy; North, Kathryn; Fowler, Velia M; Ilkovski, Biljana; Laing, Nigel G.; Lewis, Raymond A; Nowak, Kristen J; Walker, Kendall R; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Childrens Medical Research Ins; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthDisease Severity and Thin Filament Regulation in M9R TPM3 Nemaline Myopathy, Journal of Neuropathology and Experimental Neurology, vol.67, 9, 2008,pp 867-877
2010Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathyClarke, Nigel; Kennerson, Marina; Nicholson, Garth; North, Kathryn; Susman, Rachel; Vucic, Steve; Webster, Richard; Yang, Nan; Arbuckle, Susan; Biancalana, Valerie; Bitoun, Marc; Carlier, Robert-Yves; Dowling, Jim; Flanigan, Kevin M.; García-Bragado, Federico; Guicheney, Pascale; Ilkovski, Biljana; Malladi, Chandra S; Mayer, Michèle; Quijano-Roy, Susana; Robinson, Phillip James; Romero, Norma; Urtizberea, Jon Andoni; Childrens Hospital Westmead: Paediatrics & Child Health; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: ANZAC Research Institute; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Western Clinical School: Medicine (Westmead); Childrens Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Childrens Medical Research InsExpanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy, Neuromuscular Disorders, vol.20, 4, 2010,pp 229-237
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
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
2015Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficienciesBrilot-Turville, Fabienne; Christodoulou, John; Clarke, Nigel; North, Kathryn; O'Grady, Gina Louise; Sillence, David; Waddell, Leigh Brook; et al, Various; Howard, M; Ilkovski, Biljana; Kinoshita, Taroh; Knight, Samantha J.L.; Lek, M; Pagnamenta, Alistair T.; Popitsch, Niko; Thomas, Brett; Turner, Anne Marie; 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; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthMutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies, Human Molecular Genetics, vol.24, 21, 2015,pp 6146-6159