Browsing by Author McKenzie, Matthew

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Issue DateTitleAuthor(s)Citation
2014A Founder Mutation in PET100 Causes Isolated Complex IV Deficiency in Lebanese Individuals with Leigh SyndromeChristodoulou, John; Procopis, Peter; Wilcken, Bridget; Compton, Alison; Dasvarma, Ayan; et al, Various; Gandolfo, Luke; Lim, Sze Chern; Marum, Justine; McKenzie, Matthew; Peters, Heidi; Smith, Katherine; Stroud, David; Tucker, Elena; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthA Founder Mutation in PET100 Causes Isolated Complex IV Deficiency in Lebanese Individuals with Leigh Syndrome, American Journal of Human Genetics, vol.94, 2, 2014,pp 209-222
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
2011Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translationChristodoulou, John; Belcher-Timme, Casey; Compton, Alison; et al, Various; Goldberger, Olga; Hershman, Steven; Kohrer, Caroline; McKenzie, Matthew; Patel, Jinal; Ryan, Michael T; Silberstein, Jonathon; Tucker, Elena; Childrens Hospital Westmead: Paediatrics & Child HealthMutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation, Cell Metabolism, vol.14, 3, 2011,pp 428-434