Browsing by Author Clarke, Nigel

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Issue DateTitleAuthor(s)Citation
2012Importance and challenge of making an early diagnosis in LMNA-related muscular dystrophyClarke, Nigel; Cooper, Sandra; Evesson, Frances; Jones, Kristi; Menezes, Manoj; North, Kathryn; Waddell, Leigh; Corbett, Alastair; Harbord, M; Johnston, H; Kiernan, Matthew; Mowat, D; Webster, Richard; 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 HealthImportance and challenge of making an early diagnosis in LMNA-related muscular dystrophy, Neurology, vol.78, 16, 2012,pp 1258-1263
2017Improving genetic diagnosis in Mendelian disease with transcriptome sequencingBournazos, Adam; Clarke, Nigel; Cooper, Sandra; Ghaoui, Roula; Lek, Monkol; Oates, Emily; O'Grady, Gina Louise; Sandaradura, Sarah; Waddell, Leigh Brook; Bolduc, Veronique; Cummings, Beryl; Donkervoort, Sandra; Estrella, Elicia; et al, Various; Foley, A Reghan; Marshall, J; North, Kathryn N.; Reddy, H; Tukiainen, Taru; Zhao, F; 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 Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthImproving genetic diagnosis in Mendelian disease with transcriptome sequencing, Science Translational Medicine, vol.9, 386, 2017,pp 1-11
2006Investigating the pathogenesis of ACTA1-related congenital fibre type disproportionClarke, Nigel; Ilkovski, B; North, Kathryn; Feng, Juan-Juan; Marston, Steven; Nonaka, I; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Childrens Medical Research Ins; Children's Hospital Westmead: Paediatrics & Child HealthInvestigating the pathogenesis of ACTA1-related congenital fibre type disproportion, Neuromuscular Disorders, vol.16,(Supplement 1),2006,pp s61-s61
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
2014Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathyClarke, Nigel; Houweling, Peter; Quinlan (nee Edwards), Kate Gemma; Sandaradura, Sarah; Waddell, Leigh Brook; Yuen, Michaela; Ceyhan-Birsoy, Ozge; Dowling, James; et al, Various; Gokhin, David; Kostyukova, Alla; Lehtokari, Vilma-Lotta; Maluenda, Jérome; Moroz, Natalia; Ravenscroft, Gianina; Todd, Emily; 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; Northern Clinical School: Paediatrics & Child HealthLeiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy, Journal of Clinical Investigation, vol.124, 11, 2014,pp 4693-4708
2017A 'limb-girdle muscular dystrophy' responsive to asthma therapyClarke, Nigel; Cooper, Sandra; Ghaoui, Roula; Hutchinson, David; Lek, Monkol; MacArthur, D; Mulroy, Eoin; Rodrigues, Miriam; Roxburgh, Richard; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthA 'limb-girdle muscular dystrophy' responsive to asthma therapy, Practical Neurology, vol.17, 4, 2017,pp 327-331
2012Mapping domains and mutations on the skeletal muscle ryanodine receptor channelClarke, Nigel; Hwang, Jean; Treves, Susan; Zorzato, Francesco; Children's Hospital Westmead: Paediatrics & Child HealthMapping domains and mutations on the skeletal muscle ryanodine receptor channel, Trends in Molecular Medicine, vol.18, 11, 2012,pp 644-657
2013Muscle disorders: the latest investigationsClarke, Nigel; Ghaoui, RG; Hollingworth, P; Needham, M; Children's Hospital Westmead: Paediatrics & Child HealthMuscle disorders: the latest investigations, Internal Medicine Journal, vol.43, 9, 2013,pp 970-978
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
2014Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathiesClarke, Nigel; Barnerias, C; Beggs, Alan H.; Bertini, E; Ceyhan-Birsoy, Ozge; Cintas, Pascal; et al, Various; Gerard, Marion; Lehtokari, Vilma-Lotta; Marston, Steven; Marttila, Minttu; Nyman, Tuula; Childrens Hospital Westmead: Paediatrics & Child HealthMutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies, Human Mutation, vol.35, 7, 2014,pp 779-790
2014Mutation Update: The Spectra of Nebulin Variants and Associated MyopathiesClarke, Nigel; Sandaradura, Sarah; Barth, Peter G.; Donner, Kati; et al, Various; Frey, Jennifer; Kiiski, Kirsi; Laporte, Jocelyn; Lehtokari, Vilma-Lotta; Marttila, Minttu; Repo, Pauliina; Saunders, Carol; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthMutation Update: The Spectra of Nebulin Variants and Associated Myopathies, Human Mutation, vol.35, 12, 2014,pp 1418-1426
2016Mutation-specific effects on thin filament length in thin filament myopathyClarke, Nigel; Yuen, Michaela; de Winter, Josine Marieke; Edvardson, Simon; et al, Various; Gregorio, Carol; Gupta, Vandana; Joureau, Barbara; Kiss, Balazs; Lee, Eun-Jeong; Pappas, Christopher; Stienen, Ger J.M.; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthMutation-specific effects on thin filament length in thin filament myopathy, Annals of Neurology, vol.79, 6, 2016,pp 959-969
2013Mutations in BICD2 Cause Dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic ParaplegiaClarke, Nigel; Menezes, Manoj; Oates, Emily; Auer-Grumbach, Michaela; Cottenie, Ellen; et al, Various; Foley, A Reghan; Gonzalez, Michael; Greensmith, Linda; Hafezparast, Majid; Houlden, Henry; Hurles, Matthew; Lek, Monkol; MacArthur, Daniel; Pieber, Thomas R; Rossor, Alexander; Scoto, Mariacristina; Speziani, Fiorella; Strom, Tim M; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthMutations in BICD2 Cause Dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic Paraplegia, American Journal of Human Genetics, vol.92, 6, 2013,pp 965-973
2016Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathyClarke, Nigel; Davis, Ryan; Ghaoui, Roula; Kaur, Simranpreet; Sue, Carolyn; Waddell, Leigh Brook; Yiannikas, Konstantinos; Brewer, Janice M.; Evilä, Anni; Hackman, Peter; Huovinen, Sanna; Jonson, Per Harald; Lek, Monkol; Lindfors, Mikaela; MacArthur, Daniel; Needham, Merrilee; North, Kathryn N.; Palmio, J; Penttilä, Sini; Udd, Bjarne; Vihola, Anna K.; Childrens Hospital Westmead: Paediatrics & Child Health; Northern Clinical School: Kolling Institute; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Northern Clinical School: Medicine; Childrens Hospital Westmead: Paediatrics & Child Health; Northern Clinical School: MedicineMutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy, Neurology, vol.86, 4, 2016,pp 391-398
2013Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline MyopathyClarke, Nigel; Doi, Hiroshi; et al, Various; Hayashi, Yukiko; Lehtokari, Vilma-Lotta; Miyake, Noriko; Miyatake, Satoko; Ravenscroft, Gianina; Todd, Emily; Tsurusaki, Yoshinori; Vornanen, Pauliina; Yau, Kyle; Children's Hospital Westmead: Paediatrics & Child HealthMutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy, American Journal of Human Genetics, vol.93, 1, 2013,pp 6-18
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
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
2013Neuromuscular junction abnormalities in DNM2-related centronuclear myopathyClarke, Nigel; Oates, Emily; Rose, Kristy; Webster, Richard; Dowling, James; Feldman, Eva; Gibbs, Elizabeth; 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 HealthNeuromuscular junction abnormalities in DNM2-related centronuclear myopathy, Journal of Molecular Medicine (online), vol.91, 6, 2013,pp 727-737
2015Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birthClarke, Nigel; Akcoren, Zuhal; Barnett, Christopher P.; et al, Various; Haliloglu, Goknur; McGillivray, George; Ong, Royston; Slee, Jennie; Talim, Beril; Todd, Emily; Yau, Kyle; Childrens Hospital Westmead: Paediatrics & Child HealthNext generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth, Orphanet Journal of Rare Diseases, vol.10, 1, 2015,pp 1-14
2012Novel FLNC mutation in a patient with myofibrillar myopathy in combination with late-onset cerebellar ataxia.Clarke, Nigel; Waddell, Leigh; Aurino, Stefania; Goldfarb, Lev G.; Monforte, Mauro; Odgerel, Zagaa; Ricci, Enzo; Tasca, G; Udd, B; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthNovel FLNC mutation in a patient with myofibrillar myopathy in combination with late-onset cerebellar ataxia., Muscle and Nerve, vol.46, 2, 2012,pp 275-282