Browsing by Author Monnier, Nicole

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Issue DateTitleAuthor(s)Citation
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
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
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
2013A novel mutation expands the genetic and clinical spectrum of MYH7-related myopathiesClarke, Nigel; North, Kathryn; Waddell, Leigh; Amburgey, Kimberly; Camelo-Piragua, Sandra; Davis, M; et al, Various; Kesari, Akanchha; Laing, Nigel G; Monnier, Nicole; Punetha, Jaya; Teener, James; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthA novel mutation expands the genetic and clinical spectrum of MYH7-related myopathies, Neuromuscular Disorders, vol.23, 5, 2013,pp 432-436
2011Using complementary DNA from MyoD-transduced fibroblasts to sequence large muscle genesClarke, Nigel; Cooper, Sandra; North, Kathryn; Waddell, Leigh; Monnier, Nicole; 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 HealthUsing complementary DNA from MyoD-transduced fibroblasts to sequence large muscle genes, Muscle & Nerve, vol.44, 2, 2011,pp 280-282