Browsing by Author Clarke, Nigel

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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
2012Autosomal dominant congenital spinal muscular atrophy: a true form of spinal muscular atrophy caused by early loss of anterior horn cellsClarke, Nigel; Hawke, Simon; North, Kathryn; Oates, Emily; Reddel, Stephen; Bahlo, Melanie; Gandolfo, Luke; Lamande, Shireen R.; Rodriguez, Michael L.; Children's Hospital Westmead: Paediatrics & Child Health; Central Clinical School: Medicine; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Concord Clinical School: ANZAC Research InstituteAutosomal dominant congenital spinal muscular atrophy: a true form of spinal muscular atrophy caused by early loss of anterior horn cells, Brain: a journal of neurology, vol.135, 6, 2012,pp 1714-1723
2009Cap disease due to mutation of the beta-tropomyosin gene (TPM2)Clarke, Nigel; Domazetovska, Ana; North, Kathryn; Waddell, Leigh; Kornberg, Andrew J.; McLean, Catriona A.; 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 HealthCap disease due to mutation of the beta-tropomyosin gene (TPM2), Neuromuscular Disorders, vol.19, 5,pp 348-351
2006A clinical and pathological study of congenital fibre type disproportionArbuckle, Susan; Clarke, Nigel; North, Kathryn; Beggs, A; Dennett, X; Ferreiro, Ana; Gonzalez, V; Guicheney, Pascale; Kornberg, Andrew J.; Manson, James I.; Nonaka, I; Shield, Lloyd K.; Smith, R; Children's Hospital Westmead: Medicine; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthA clinical and pathological study of congenital fibre type disproportion, Neuromuscular Disorders, vol.16,(9-10),2006,pp 646-646
2003Congenital fiber type disproportion - 30 years onClarke, Nigel; North, Kathryn; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthCongenital fiber type disproportion - 30 years on, Journal of neuropathology and experimental neurology, vol.62,(10),2003,pp 977-989
2018Congenital titinopathy: Comprehensive characterisation and pathogenic insightsBournazos, Adam; Charlton, Amanda; Clarke, Nigel; Cooper, Sandra; Fitzsimons, Robin; Ghaoui, Roula; Jones, Kristi; Oates, Emily; O'Grady, Gina Louise; Peduto, Anthony; Sandaradura, Sarah; Waddell, Leigh Brook; Brammah, Susan; Donkervoort, Sandra; et al, Various; Farrar, Michelle A.; Sampaio, Hugo; Smith III, John; Swanson, Lindsay; Ware, James; Whiffin, Nicola; Yau, Kyle; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Medicine; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Westmead Clinical School: Imaging; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthCongenital titinopathy: Comprehensive characterisation and pathogenic insights, Annals of Neurology, vol.83, 6, 2018,pp 1106-1124
2012Consensus Statement on Standard of Care for Congenital MyopathiesClarke, Nigel; Fitzgerald, Dominic; Munns, Craig; North, Kathryn; Rose, Kristy; Amburgey, Kimberly; Apkon, Susan; Bellini, Jonathan; Dowling, James; et al, Various; Guillet, Marc; Schroth, Mary; Sejersen, Thomas; Shapiro, F; Wang, Ching; Weiss, Hali; 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 Health; Children's Hospital Westmead: MedicineConsensus Statement on Standard of Care for Congenital Myopathies, Journal of Child Neurology, vol.27, 3, 2012,pp 363-382
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
2015Delayed diagnosis of congenital myasthenia due to associated mitochondrial enzyme defectChristodoulou, John; Clarke, Nigel; Guo, Yiran; Liang, Jinlong; Menezes, Manoj; Menezes, Minal; Andrews, P Ian; et al, Various; Keating, Brendan; Li, Dong; Liu, Xuanzhu; Riley, Lisa G.; Shen, Yulan; Thorburn, David R.; Tian, Lifeng; Wang, Fengxiang; Webster, Richard; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Genetic Medicine; Children's Hospital Westmead: Genetic Medicine; Clinical and Rehabilitation Sciences; Childrens Hospital Westmead: Paediatrics & Child HealthDelayed diagnosis of congenital myasthenia due to associated mitochondrial enzyme defect, Neuromuscular Disorders, vol.25, N/A, 2015,pp 257-261
2012Diagnosis of the Muscular DystrophiesClarke, Nigel; Cooper, Sandra; Evesson, Frances; North, Kathryn; Waddell, Leigh; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Medicine; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthDiagnosis of the Muscular Dystrophies in Muscular Dystrophy, InTech Publishers, 2012, pp. 261-288
2011Dysferlin, Annexin A1, and Mitsugumin 53 Are Upregulated in Muscular Dystrophy and Localize to Longitudinal Tubules of the T-System With StretchClarke, Nigel; Cooper, Sandra; Evesson, Frances; Hawkes, Joanne; Lek, Angela; Lemckert, Frances; North, Kathryn; Tran, Jenny; Waddell, Leigh; Zheng, Xi; Ackerman, Michael; Landstrom, Andrew; Lin, Peihui; Ma, Jianjie; Street, Neil; Weisleder, Noah; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Medicine; 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 Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthDysferlin, Annexin A1, and Mitsugumin 53 Are Upregulated in Muscular Dystrophy and Localize to Longitudinal Tubules of the T-System With Stretch, Journal of Neuropathology and Experimental Neurology, vol.70, 4, 2011,pp 302-313
2015Effect of levosimendan on the contractility of muscle fibers from nemaline myopathy patients with mutations in the nebulin geneClarke, Nigel; Beggs, Alan H.; de Winter, Josine Marieke; Granzier, Henk; Joureau, Barbara; Ottenheijm, Coen; Sequeira, Vasco; Stienen, Ger J.M.; van der Velden, Jolanda; Childrens Hospital Westmead: Paediatrics & Child HealthEffect of levosimendan on the contractility of muscle fibers from nemaline myopathy patients with mutations in the nebulin gene, Skeletal Muscle, vol.5, N/A, 2015,pp 1-10
2012Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by ANO5Clarke, Nigel; Waddell, Leigh; Barboi, A; Evila, A; Hackman, P; Muelas Gomez, N; Palmio, J; Penttila, S; Raheem, O; Suominen, T; Tasca, G; Udd, B; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthEight new mutations and the expanding phenotype variability in muscular dystrophy caused by ANO5, Neurology, vol.78, 12, 2012,pp 897-903
2014Endogenous Glucuronyltransferase Activity of LARGE or LARGE2 Required for Functional Modification of alpha-dystroglycan in Cells and TissuesClarke, Nigel; Anderson, Mary E; Bonnemann, Carsten; Campbell, Kevin; Guicheney, Pascale; Hara, Yuji; Inamori, Kei-ichiro; Moore, Steven A; Venzke, David; Willer, Tobias; Childrens Hospital Westmead: Paediatrics & Child HealthEndogenous Glucuronyltransferase Activity of LARGE or LARGE2 Required for Functional Modification of alpha-dystroglycan in Cells and Tissues, The Journal of Biological Chemistry, vol.289, 41, 2014,pp 28138-28148
2010Evidence for a dominant negative disease mechanism in cap myopathy due to TPM3Clarke, Nigel; North, Kathryn; Waddell, Leigh; Kennedy, Paul; Kornberg, Andrew J.; Kreissl, Michaela; Labarre-Vila, Annick; McLean, Catriona A.; Monnier, Nicole; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthEvidence for a dominant negative disease mechanism in cap myopathy due to TPM3, Neuromuscular Disorders, vol.20, N/A,pp 464-466
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
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
2013Genotype-phenotype correlations in recessive RYR1-related myopathiesClarke, Nigel; Hwang, Jean; Amburgey, Kimberly; Bailey, Angela; Bonnemann, Carsten; Callaghan, Brian; Collins, James; Daube, Jasper R; Dowling, James; Mathews, Katherine D; Medne, Livija; Tarnopolsky, Mark A; Wellman, Gregory P; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: MedicineGenotype-phenotype correlations in recessive RYR1-related myopathies, Orphanet Journal of Rare Diseases, vol.8, 1, 2013,pp 1-12
2013Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline MyopathyClarke, Nigel; Sandaradura, Sarah; Darras, B T; et al, Various; Farrar, Michelle; Gupta, Vandana; Hsu, Cynthia; Ogata, Kazuhiro; Ravenscroft, Gianina; Shaheen, Ranad; Shiina, Masaaki; Swanson, Lindsay; Todd, Emily; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthIdentification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy, American Journal of Human Genetics, vol.93, 6, 2013,pp 1108-1117