Browsing by Author Tucker, Elena

Jump to: 0-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
or enter first few letters:  
Showing results 1 to 6 of 6
Issue DateTitleAuthor(s)Citation
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
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
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; 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
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