Browsing by Author Compton, Alison

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Issue DateTitleAuthor(s)Citation
2011Application of oligonucleotide array CGH in the detection of a large intragenic deletion in POLG associated with Alpers SyndromeProcopis, Peter; Wilson, Meredith; Brundage, Ellen K.; Compton, Alison; Li, Fang-Yuan; Thorburn, David; Troedson, Chris; Wong, Lee-Jun C.; Yamazaki, Taro; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthApplication of oligonucleotide array CGH in the detection of a large intragenic deletion in POLG associated with Alpers Syndrome, Mitochondrion, vol.11, 1, 2011,pp 104-107
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
2012Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencingChristodoulou, John; Calvo, Sarah; Compton, Alison; et al, various; Garone, Caterina; Hershman, Steven; Jaffe, David B.; Laskowski, Adrienne; Lieber, Daniel; Lim, Sze Chern; Liu, Shangtao; Tucker, Elena; Children's Hospital Westmead: Paediatrics & Child HealthMolecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing, Science Translational Medicine, vol.4, 118, 2012,pp 1-15
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
2013Mutations in the UQCC1-Interacting Protein, UQCC2, Cause Human Complex III Deficiency Associated with Perturbed Cytochrome b Protein ExpressionChristodoulou, John; Compton, Alison; et al, Various; Leenders, Anne; Mountford, Hayley; Reljic, Boris; Rodenburg, Richard; Szklarczyk, Radek; Tucker, Elena; van den Brand, Mariel; Wanschers, Bas; Wijeyeratne, Xiaonan; Children's Hospital Westmead: Paediatrics & Child HealthMutations in the UQCC1-Interacting Protein, UQCC2, Cause Human Complex III Deficiency Associated with Perturbed Cytochrome b Protein Expression, PLoS Genetics, vol.9, 12, 2013,pp 1-15
2013Mutations in the UQCC1-Interacting Protein, UQCC2, Cause Human Complex III Deficiency Associated with Perturbed Cytochrome b Protein ExpressionChristodoulou, John; Compton, Alison; et al, Various; Leenders, Anne; Mountford, Hayley; Reljic, Boris; Rodenburg, Richard; Szklarczyk, Radek; Tucker, Elena; van den Brand, Mariel; Wanschers, Bas; Wijeyeratne, Xiaonan; Childrens Hospital Westmead: Paediatrics & Child HealthMutations in the UQCC1-Interacting Protein, UQCC2, Cause Human Complex III Deficiency Associated with Perturbed Cytochrome b Protein Expression, PLoS Genetics, vol.9, 12, 2013,pp 1-15