Browsing by Author Marttila, Minttu

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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
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