Browsing by Author Thorburn, David

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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
2017Compound heterozygous mutations in glycyl-tRNA synthetase (GARS) cause mitochondrial respiratory chain dysfunctionBhattacharya, Kaustuv; Christodoulou, John; Gold, Wendy; Nafisinia, Michael; Riley, Lisa; Broderick, Carolyn; Simons, Cas; Thorburn, David; 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 HealthCompound heterozygous mutations in glycyl-tRNA synthetase (GARS) cause mitochondrial respiratory chain dysfunction, PloS One, vol.12, 6, 2017,pp 1-12
2012Mitochondrial Respiratory Chain Hepatopathies: Role of Liver Transplantation. A Case Series of Five PatientsAlexander, Ian; Christodoulou, John; Shun, Albert; Stormon, Michael; De Greef, Elisabeth; Jermyn, Vicki; O'Loughlin, Edward; Thorburn, David; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Western Clinical School: Medicine (Westmead); Children's Hospital Westmead: Paediatrics & Child HealthMitochondrial Respiratory Chain Hepatopathies: Role of Liver Transplantation. A Case Series of Five Patients in JIMD Reports - Case and Research Reports, 2012/1, Springer Science + Business Media, 2012, pp. 5-12
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
2016Neurophysiological profile of peripheral neuropathy associated with childhood mitochondrial diseaseBhattacharya, Kaustuv; Christodoulou, John; Ellaway, Carolyn; Menezes, Manoj; Ouvrier, Robert; Clark, Damian; Farrar, Michelle; Pitt, Matthew; Rahman, Shamima; Ryan, Monique; Sampaio, Hugo; Thorburn, David; Ware, Tyson L; Wedatilake, Yehani; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Clinical and Rehabilitation Sciences; Childrens Hospital Westmead: Paediatrics & Child HealthNeurophysiological profile of peripheral neuropathy associated with childhood mitochondrial disease, Mitochondrion, vol.30, N/A, 2016,pp 162-167
2017A SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disordersBalasubramaniam, Shanti; Christodoulou, John; Riley, Lisa; Sue, Carolyn; Bahlo, Melanie; Cowley, Mark; Gayevskiy, Velimir; Prelog, Kristina; Roscioli, T; Thorburn, David; Childrens Hospital Westmead: Medicine; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Northern Clinical School: MedicineA SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disorders, Journal of Inherited Metabolic Disease, vol.40, 2, 2017,pp 261-269
2017Whole-exome sequencing identifies novel variants in PNPT1 causing oxidative phosphorylation defects and severe multisystem diseaseAlodaib, A; Bennetts, Bruce; Christodoulou, John; Gold, Wendy; Riley, Lisa; Wilson, Meredith; Boehm, Corinne; Sobreira, Nara; Thorburn, David; Van Bergen, Nicole J.; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Veterinary Science; Childrens Hospital Westmead: Paediatrics & Child HealthWhole-exome sequencing identifies novel variants in PNPT1 causing oxidative phosphorylation defects and severe multisystem disease, European Journal of Human Genetics, vol.25, 1, 2017,pp 79-84