Browsing by Author Lehtokari, Vilma-Lotta

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Issue DateTitleAuthor(s)Citation
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
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
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