Browsing by Author Thorburn, David R.

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Showing results 1 to 7 of 7
Issue DateTitleAuthor(s)Citation
2015Delayed diagnosis of congenital myasthenia due to associated mitochondrial enzyme defectChristodoulou, John; Clarke, Nigel; Guo, Yiran; Liang, Jinlong; Menezes, Manoj; Menezes, Minal; Andrews, P Ian; et al, Various; Keating, Brendan; Li, Dong; Liu, Xuanzhu; Riley, Lisa G.; Shen, Yulan; Thorburn, David R.; Tian, Lifeng; Wang, Fengxiang; Webster, Richard; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Genetic Medicine; Children's Hospital Westmead: Genetic Medicine; Clinical and Rehabilitation Sciences; Childrens Hospital Westmead: Paediatrics & Child HealthDelayed diagnosis of congenital myasthenia due to associated mitochondrial enzyme defect, Neuromuscular Disorders, vol.25, N/A, 2015,pp 257-261
2002Flow cytometry in the study of mitochondrial respiratory chain disordersChristodoulou, John; Williams, Andrew; Donald, Jennifer; Kirby, Denise M.; Setterfield, Karen; Thorburn, David R.; Trounce, Ian; Children's Hospital Westmead: Paediatrics & Child Health; Central Clinical School: MedicineFlow cytometry in the study of mitochondrial respiratory chain disorders, Mitochondrion, vol.1, 5,pp 437-445
2008Mutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial diseaseChristodoulou, John; Abu-Amero, Khaled K; Calvo, Rosa; Dahl, Hans-Henrik M; Hutchison, Wendy M; Kirby, Denise M.; McKenzie, Matthew; Mootha, Vamsi K; Newbold, Robert F; Pagliarini, David J; Ryan, Michael T; Salemi, Renato; Smith, Stacey M; Sugiana, Canny; Thorburn, David R.; Vascotto, Katherine A; Children's Hospital Westmead: Paediatrics & Child HealthMutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial disease, American Journal of Human Genetics, vol.83,(4),2008,pp 468-478
2010Mutation of the Mitochondrial Tyrosyl-tRNA Synthetase Gene, YARS2, Causes Myopathy, Lactic Acidosis, and Sideroblastic Anemia-MLASA SyndromeChristodoulou, John; Cooper, Sandra; Bahlo, Melanie; Compton, Alison; Giege, Richard; Hickey, Peter; Lim, Sze Chern; McKenzie, Matthew; Riley, Lisa G.; Rudinger-Thirion, Joelle; Ryan, Michael T; Thorburn, David R.; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthMutation of the Mitochondrial Tyrosyl-tRNA Synthetase Gene, YARS2, Causes Myopathy, Lactic Acidosis, and Sideroblastic Anemia-MLASA Syndrome, American Journal of Human Genetics, vol.87, 1, 2010,pp 52-59
2005Mutation screening of the mitochondrial genome using denaturing high-performance liquid chromatography.Bennetts, Bruce; Christodoulou, John; Biggin, Andrew; Henke, Robert; Thorburn, David R.; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthMutation screening of the mitochondrial genome using denaturing high-performance liquid chromatography., Molecular Genetics and Metabolism (2005), vol.84,(1),2005,pp 61-74
2005New DGK gene mutations in the hepatocerebral form of mitochondrial DNA depletion syndrome.Christodoulou, John; DiMauro, Salvatore; Feigenbaum, Annette; Ferraris, Silvio; Mancuso, Michelangelo; Pancrudo, Jacklyn; Raiman, Julian; Thorburn, David R.; Children's Hospital Westmead: Paediatrics & Child HealthNew DGK gene mutations in the hepatocerebral form of mitochondrial DNA depletion syndrome., Archives of Neurology, February 2005, vol.62,(5),2005,pp 745-747
2014Rapid identification of a novel complex I MT-ND3 m.10134C>A mutation in a Leigh syndrome patientChristodoulou, John; Cooper, Sandra; Menezes, Minal; Riley, Lisa; Grimmond, Sean Michael; Miller, David K; Simons, Cas; Taft, Ryan J; Thorburn, David R.; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Vet Science FacultyRapid identification of a novel complex I MT-ND3 m.10134C>A mutation in a Leigh syndrome patient, PloS One, vol.9, 8, 2014,pp 1-6