Browsing by Author Laing, Nigel G.

Jump to: 0-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
or enter first few letters:  
Showing results 1 to 9 of 9
Issue DateTitleAuthor(s)Citation
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
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
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
2003Effects of MECP2 mutation type, location and X-inactivation in modulating Rett Syndrome phenotypeBennetts, Bruce; Christodoulou, John; Ellaway, Carolyn; Weaving, Linda; Davis, Mark; Delatycki, Martin; Laing, Nigel G.; Leonard, Helen; Thompson, Elizabeth M.; Thong, Meow-Keong; Williamson, Sarah L; 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 HealthEffects of MECP2 mutation type, location and X-inactivation in modulating Rett Syndrome phenotype, American Journal of Medical Genetics Part A, vol.118A,(N/A),2003,pp 103-114
2011Fetal akinesia: review of the genetics of the neuromuscular causesNorth, Kathryn; Baynam, Gareth; Charles, Adrian; Laing, Nigel G.; Ravenscroft, Gianina; Sollis, Elliot; Children's Hospital Westmead: Paediatrics & Child HealthFetal akinesia: review of the genetics of the neuromuscular causes, Journal of Medical Genetics: an international peer-reviewed journal for health professionals and researchers in all areas of genetics, vol.48, 12, 2011,pp 793-801
2008Mutations in TPM3 are a common cause of congenital fiber type disproportionClarke, Nigel; North, Kathryn; Bellance, Remi; Dye, Danielle; Fahey, Michael; Johnson, Edward; Kolski, Hanna; Labarre-Vila, Annick; Laing, Nigel G.; Lim, Esther; Monnier, Nicole; Patel, Rakesh; Romero, Norma; Smith, Robert; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthMutations in TPM3 are a common cause of congenital fiber type disproportion, Annals of Neurology, vol.63,(3),2008,pp 329-337
2002De novo missense mutation in a constitutively expressed exon of the slow alpha-tropomyosin gene TPM3 asssociated with an atypical, sporadic case of nemaline myopathyGunning, Peter; Durling, H.; Laing, Nigel G.; Lochmuller, H; Mendel, B; Muller-Hocker, J; Pongratz, D; Reilich, P; Wallgren-Pettersson, C; Children's Hospital Westmead: Paediatrics & Child HealthDe novo missense mutation in a constitutively expressed exon of the slow alpha-tropomyosin gene TPM3 asssociated with an atypical, sporadic case of nemaline myopathy, Neuromuscular Disorders, vol.12,(N/A),2002,pp 947-51
2003Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 geneNorth, Kathryn; Bankier, A; Colley, A; Davis, M R; Dixon, J; Gedeon, A; Haan, E; James, D; Jungbluth, H; Kuntzer, T; Laing, Nigel G.; Lamont, Phillipa J.; Muller, C R; Muntoni, C; Nagarajan, L; Oley, C; Quinlivan, R; Sanchez, A; Sewry, C; Tomlinson, P; Walsh, P; Children's Hospital Westmead: Paediatrics & Child HealthPrincipal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene, Neuromuscular Disorders, vol.13,(2),2003,pp 151-157
2008Skeletal muscle alpha-actin diseasesNorth, Kathryn; Laing, Nigel G.; Children's Hospital Westmead: Paediatrics & Child HealthSkeletal muscle alpha-actin diseases in The Sarcomere and Skeletal Muscle Disease, Springer Science + Business Media, 2008, pp. 15-27