Browsing by Author Nafisinia, Michael

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Issue DateTitleAuthor(s)Citation
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
2017Mutations in RARS cause a hypomyelination disorder akin to Pelizaeus-Merzbacher diseaseChristodoulou, John; Gold, Wendy; Nafisinia, Michael; Ouvrier, Robert; Riley, Lisa; Boehm, Corinne; Prelog, Kristina; Sobreira, Nara; Uhlenberg, Birgit; Weib, Claudia; 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 HealthMutations in RARS cause a hypomyelination disorder akin to Pelizaeus-Merzbacher disease, European Journal of Human Genetics, vol.25, 10, 2017,pp 1134-1141
2017Whole Exome Sequencing Identifies the Genetic Basis of Late-Onset Leigh Syndrome in a Patient with MRI but Little Biochemical Evidence of a Mitochondrial DisorderChristodoulou, John; Gold, Wendy; Nafisinia, Michael; Riley, Lisa; Chen, Yulan; Dang, Xiao; Guo, Yiran; Hakonarson, Hakon; Keating, Brendan; Lake, Nicole; Li, Jiankang; Thornburn, David; Xu, Xun; Zhang, Jianguo; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthWhole Exome Sequencing Identifies the Genetic Basis of Late-Onset Leigh Syndrome in a Patient with MRI but Little Biochemical Evidence of a Mitochondrial Disorder, JIMD Reports, vol.32, N/A, 2017,pp 117-124