Browsing by Author Beggs, Alan H.

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Showing results 1 to 7 of 7
Issue DateTitleAuthor(s)Citation
2012Clinical utility gene card for: Centronuclear and myotubular myopathiesNorth, Kathryn; Beggs, Alan H.; Biancalana, Valerie; Das, Soma; Jungbluth, Heinz; Kress, Wolfram; Laporte, Jocelyn; Nishino, Ichizo; Romero, Norma; Children's Hospital Westmead: Paediatrics & Child HealthClinical utility gene card for: Centronuclear and myotubular myopathies, European Journal of Human Genetics, vol.20, 10, 2012,pp 1-5
2007Distinctive patterns of microRNA expression in primary muscular disorders.North, Kathryn; Amato, Anthony; Beggs, Alan H.; Eisenberg, Iris; Eran, Alal; Flanigan, Kevin M.; Kang, Peter; Kohane, Isaac S.; Kunkel, Louis M.; Lamperti, Costanza; Lidov, Hart; Mitrani-Rosenbaum, Stella; Moggio, Maurizio; Neely, Lori A.; Nishino, Ichizo; Whitney, Duncan; Children's Hospital Westmead: Paediatrics & Child HealthDistinctive patterns of microRNA expression in primary muscular disorders., National Academy of Sciences 2005, vol.104,(43),2007,pp 17016-17021
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
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
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
2006Skeletal muscle repair in a mouse model of nemaline myopathy.Corbett, Mark; Ghoddusi, M; Hardeman, Edna; Nguyen, Mai-Anh; Vlahovich, Nicole; Beggs, Alan H.; Han, Mei; Sanoudou, Despina; Children's Hospital Westmead: Childrens Medical Research Ins; Medicine; Children's Hospital Westmead: Childrens Medical Research Ins; Western Clinical School: Clinical Ophthal & Eye Health; Central Clinical School: MedicineSkeletal muscle repair in a mouse model of nemaline myopathy., Human Molecular Genetics, 2005, vol.15,(17),2006,pp 2603-2612
2013Troponin activator augments muscle force in nemaline myopathy patients with nebulin mutationsClarke, Nigel; Beggs, Alan H.; Buck, Danielle; de Winter, Josine Marieke; Granzier, Henk; Hidalgo, Carlos; Jasper, Jeffrey; Lawlor, Michael; Malik, Fady; Ottenheijm, Coen; Stienen, Ger J.M.; Children's Hospital Westmead: Paediatrics & Child HealthTroponin activator augments muscle force in nemaline myopathy patients with nebulin mutations, Journal of Medical Genetics, vol.50, 6, 2013,pp 383-392