Browsing by Author Todd, Emily

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Issue DateTitleAuthor(s)Citation
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
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
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
2015Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birthClarke, Nigel; Akcoren, Zuhal; Barnett, Christopher P.; et al, Various; Haliloglu, Goknur; McGillivray, George; Ong, Royston; Slee, Jennie; Talim, Beril; Todd, Emily; Yau, Kyle; Childrens Hospital Westmead: Paediatrics & Child HealthNext generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth, Orphanet Journal of Rare Diseases, vol.10, 1, 2015,pp 1-14