Browsing by Author Nowak, Kristen J

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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
2010Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with coresNorth, Kathryn; Bayarsaikhan, Munkhuu; Duff, Rachael; et, al; Gonzales-Mera, Laura; Lu, Shajia; Nowak, Kristen J; Olive, Montse; Ravenscroft, Gianina; Sambuughin, Nyamkhishig; Sivadorai, Padma; Yau, Kyle; Children's Hospital Westmead: Paediatrics & Child HealthDominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores, American Journal of Human Genetics, vol.87, 6,pp 842-847
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
2004Genotype-Phenotype Correlations In Nemaline Myopathy Caused By Mutations In The Genes For Nebulin And Skeletal Muscle Alpha-Actin.North, Kathryn; Beggs, Alan H.; Goebel, Hans H; Laing, Nigel G; Muntoni, Francesco; Nowak, Kristen J; Pelin, Katarina; Romero, Norma B; Wallgren-Pettersson, Carina; Children's Hospital Westmead: Paediatrics & Child HealthGenotype-Phenotype Correlations In Nemaline Myopathy Caused By Mutations In The Genes For Nebulin And Skeletal Muscle Alpha-Actin., Neuromuscular Disorders, vol.14,(8-9),2004,pp 461-470
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
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