Browsing by Author Laing, Nigel G

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Issue DateTitleAuthor(s)Citation
2004Actin Mutations Are One Cause Of Congenital Fibre Type Disproportion.Clarke, Nigel; North, Kathryn; Ouvrier, Robert; Dye, Danielle E; Hagiwara, Tohru; Kobayashi, Yasuaki; Laing, Nigel G; Liyanage, Khema; Nishino, Ichizo; Nonaka, Ikuya; Shimakawa, Shuichi; Sparrow, John C; Walker, Kendall R; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthActin Mutations Are One Cause Of Congenital Fibre Type Disproportion., Annals of Neurology, vol.56,(5),2004,pp 689-694
2014Approach to the diagnosis of congenital myopathiesClarke, Nigel; North, Kathryn; Amburgey, Kimberley; Beggs, Alan H; Bonnemann, Carsten; Dowling, James; Jungbluth, Heinz; Laing, Nigel G; Quijano-Roy, Susana; Sewry, C; Vainzof, Mariz; Wang, Ching; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthApproach to the diagnosis of congenital myopathies, Neuromuscular Disorders, vol.24, 2, 2014,pp 97-116
2017Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseasesBurns, Joshua; Cooper, Sandra; O'Grady, Gina Louise; Sandaradura, Sarah; Schofield, Deborah; Shrestha, Rupendra Narashingh; Alam, Khurshid; Clarke, Nigel; Davis, Mark; Douglas, Lyndal; Laing, Nigel G; MacArthur, Daniel; North, Kathryn N.; Clinical and Rehabilitation Sciences; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Pharmacy; PharmacyCost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseases, n p j Genomic Medicine, vol.2:4, N/A, 2017,pp N/A-N/A
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
2015Expanding the phenotype of GMPPB mutationsClarke, Nigel; Corbett, Alastair; Ghaoui, Roula; Lek, Monkol; Reddel, Stephen; Sue, Carolyn; Waddell, Leigh Brook; Cabrera-Serrano, Macarena; Davis, Mark; Johnsen, Russell D; Kaur, Simranpreet; Laing, Nigel G; Lamont, Phillipa J.; Liang, Christina; MacArthur, Daniel; North, Kathryn N; Ravenscroft, Gianina; Childrens Hospital Westmead: Paediatrics & Child Health; Concord Clinical School: Medicine; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Concord Clinical School: ANZAC Research Institute; Northern Clinical School: Medicine; Childrens Hospital Westmead: Paediatrics & Child HealthExpanding the phenotype of GMPPB mutations, Brain, vol.138, Pt 4, 2015,pp 836-844
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
2012Investigation of NOTCH4 coding region polymorphisms in sporadic inclusion body myositisNeedham, Merrillee; Allcock, R.; Dalakas, Marinos; Laing, Nigel G; Mastaglia, Frank; Scott, Adrian; Northern Clinical School: MedicineInvestigation of NOTCH4 coding region polymorphisms in sporadic inclusion body myositis, Journal of Neuroimmunology, vol.250, 1-2, 2012,pp 66-70
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
2004Magnetic Resonance Imaging Of Muscle In Nemaline Myopathy.North, Kathryn; Allsop, Joanna; Bydder, Graeme; Chattopadhyay, Arijit; Counsell, Serena; Jungbluth, H; Laing, Nigel G; Mercuri, Eugenio; Muntoni, Francesco; Pelin, Katarina; Sewry, C; Wallgren-Pettersson, Carina; Children's Hospital Westmead: Paediatrics & Child HealthMagnetic Resonance Imaging Of Muscle In Nemaline Myopathy., Neuromuscular Disorders, vol.14,(N/A),2004,pp 779-784
2013A novel mutation expands the genetic and clinical spectrum of MYH7-related myopathiesClarke, Nigel; North, Kathryn; Waddell, Leigh; Amburgey, Kimberly; Camelo-Piragua, Sandra; Davis, M; et al, Various; Kesari, Akanchha; Laing, Nigel G; Monnier, Nicole; Punetha, Jaya; Teener, James; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthA novel mutation expands the genetic and clinical spectrum of MYH7-related myopathies, Neuromuscular Disorders, vol.23, 5, 2013,pp 432-436