Browsing by Author Ravenscroft, Gianina

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Showing results 1 to 11 of 11
Issue DateTitleAuthor(s)Citation
2010Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with coresNorth, Kathryn; Bayarsaikhan, Munkhuu; Duff, Rachael; et, al; Gonzales-Mera, Laura; Lu, Shajia; Nowak, Kristen J; Olive, Montse; Ravenscroft, Gianina; Sambuughin, Nyamkhishig; Sivadorai, Padma; Yau, Kyle; Children's Hospital Westmead: Paediatrics & Child HealthDominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores, American Journal of Human Genetics, vol.87, 6,pp 842-847
2015Expanding the phenotype of GMPPB mutationsClarke, Nigel; Corbett, Alastair; Ghaoui, Roula; Lek, Monkol; Reddel, Stephen; Sue, Carolyn; Waddell, Leigh Brook; Cabrera-Serrano, Macarena; Davis, Mark; Johnsen, Russell D; Kaur, Simranpreet; Laing, Nigel G; Lamont, Phillipa J.; Liang, Christina; MacArthur, Daniel; North, Kathryn N; Ravenscroft, Gianina; Childrens Hospital Westmead: Paediatrics & Child Health; Concord Clinical School: Medicine; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Concord Clinical School: ANZAC Research Institute; Northern Clinical School: Medicine; Childrens Hospital Westmead: Paediatrics & Child HealthExpanding the phenotype of GMPPB mutations, Brain, vol.138, Pt 4, 2015,pp 836-844
2013Familial dilated cardiomyopathy mutations uncouple troponin l phosphorylation from changes in myofibrillar Ca2+ sensitivitydos Remedios, Cristobal; Leung, Man-Ching; Marston, Steven; McNamara, Elyshia; Memo, Massimiliano; Messer, Andrew; Morimoto, Sachio; Nowak, Kristen; Ravenscroft, Gianina; Ward, Douglas; Zhang, Lianfeng; School of Medical Sciences: Bosch InstituteFamilial dilated cardiomyopathy mutations uncouple troponin l phosphorylation from changes in myofibrillar Ca2+ sensitivity, Cardiovascular Research, vol.99, 1, 2013,pp 65-73
2011Fetal akinesia: review of the genetics of the neuromuscular causesNorth, Kathryn; Baynam, Gareth; Charles, Adrian; Laing, Nigel G.; Ravenscroft, Gianina; Sollis, Elliot; Children's Hospital Westmead: Paediatrics & Child HealthFetal akinesia: review of the genetics of the neuromuscular causes, Journal of Medical Genetics: an international peer-reviewed journal for health professionals and researchers in all areas of genetics, vol.48, 12, 2011,pp 793-801
2013Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline MyopathyClarke, Nigel; Sandaradura, Sarah; Darras, B T; et al, Various; Farrar, Michelle; Gupta, Vandana; Hsu, Cynthia; Ogata, Kazuhiro; Ravenscroft, Gianina; Shaheen, Ranad; Shiina, Masaaki; Swanson, Lindsay; Todd, Emily; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthIdentification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy, American Journal of Human Genetics, vol.93, 6, 2013,pp 1108-1117
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
2016Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathyOates, Emily; Blom, Eveline; et al, Various; Gabbett, Michael T; Hendson, Glenda; Rasmussen, Magnhild; Ravenscroft, Gianina; Thor, Michael G; van Karnebeek, Clara; Whitting, Nanna; Zaharieva, Irina T; Childrens Hospital Westmead: Paediatrics & Child HealthLoss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy, Brain, vol.139, 3, 2016,pp 674-691
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
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 of GPR126 Are Responsible for Severe Arthrogryposis Multiplex CongenitaBuckland, Michael; Alanio, Elisabeth; Arbuckle, Susan; et al, Various; Gaillard, Dominique; Krivanek, Michael; Maluenda, Jérome; Meireles, Ana M; Nolent, Flora; Paavola, Kevin J; Rajagopalan, Sulekha; Ravenscroft, Gianina; School of Medical Sciences: Brain and Mind CentreMutations of GPR126 Are Responsible for Severe Arthrogryposis Multiplex Congenita, American Journal of Human Genetics, vol.96, 6, 2015,pp 955-961