Browsing by Author Menezes, Minal

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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
2014Mitochondrial Respiratory Chain Disorders in Childhood: Insights into Diagnosis and Management in the New Era of Genomic MedicineChristodoulou, John; Menezes, Minal; Riley, Lisa G.; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthMitochondrial Respiratory Chain Disorders in Childhood: Insights into Diagnosis and Management in the New Era of Genomic Medicine, Biochimica et Biophysica Acta. Molecular and Cell Biology of Lipids, vol.1840, 4, 2014,pp 1368-1379
2015Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemiaAlexander, Stephen; Christodoulou, John; Cooper, Sandra; Davis, Ryan; Menezes, Minal; Riley, Lisa; Sue, Carolyn; Arbuckle, Susan; Dong, Daoyuan; Glessner, Joseph; Guo, Yiran; Hakonarson, Haron; Keating, Brendan; Kirwan, Paul; Li, Jiankang; Li, Zhijun; Thorburn, David; Xu, Xun; Zhang, Jianguo; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Northern Clinical School: Kolling Institute; Childrens Hospital Westmead: Paediatrics & Child Health; Vet Science Faculty; Northern Clinical School: MedicineMutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemia, Human Molecular Genetics, vol.24, 8, 2015,pp 2297-2307
2013Mutations in CYC1, encoding cytochrome c1 subunit of respiratory chain complex III, cause insulin-responsive hyperglycemiaChristodoulou, John; Cooper, Sandra; Menezes, Minal; Abida, Heni; Bayot, Aurelien; et al, Various; Gaignard, Pauline; Gilleron, Mylene; Lombes, Anne; Oiger de Baulny, Helene; Rak, Malgorzata; Schiff, Manuel; Su, Chen-Hsien; Tzagoloff, Alexander; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthMutations in CYC1, encoding cytochrome c1 subunit of respiratory chain complex III, cause insulin-responsive hyperglycemia, American Journal of Human Genetics, vol.93, 2, 2013,pp 384-389
2013Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemiaChristodoulou, John; Cooper, Sandra; Menezes, Minal; Riley, Lisa; Tchan, Michel; Davis, Mark; de Lonlay, Pascale; Duff, Rachael; Rotig, Agnes; Rudinger-Thirion, Joelle; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Vet Science Faculty; Western Clinical School: Medicine (Westmead)Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia, Orphanet Journal of Rare Diseases, vol.8, 1, 2013,pp 1-11
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