Browsing by Author Riley, Lisa G.

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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
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
2013Mutations in LYRM4, encoding iron-sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexesChristodoulou, John; Boneh, A.; Bruno, Damien; DeGennaro, Christine; et al, Various; Friemel, Martin; Kirk, Edwin; Lim, Sze Chern; Marum, Justine; Riley, Lisa G.; Springer, Michael; Tucker, Elena; Children's Hospital Westmead: Paediatrics & Child HealthMutations in LYRM4, encoding iron-sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes, Human Molecular Genetics, vol.22, 22, 2013,pp 4460-4473
2017A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemiaChristodoulou, John; Bianchi, Marzia; et al, Various; Gelmetti, Vania; Guo, Y; Martinelli, Diego; Montanari, Arianna; Niceta, Marcello; Riley, Lisa G.; Rizza, Teresa; Torraco, Alessandra; Verrigni, Daniela; Childrens Hospital Westmead: Paediatrics & Child HealthA novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia, Clinical Genetics, vol.91, 3, 2017,pp 441-447