Compound heterozygous mutations in glycyl-tRNA synthetase (GARS) cause mitochondrial respiratory chain dysfunction

Por Nafisinia, Michael, Riley, Lisa G., Gold, Wendy A., Bhattacharya, Kaustuv, Broderick, Carolyn R., Thorburn, David R., Simons, Cas, Christodoulou, John
Publicado no PLoS One (2017)

Rapid Identification of a Novel Complex I MT-ND3 m.10134C>A Mutation in a Leigh Syndrome Patient

Por Miller, David K., Menezes, Minal J., Simons, Cas, Riley, Lisa G., Cooper, Sandra T., Grimmond, Sean M., Thorburn, David R., Christodoulou, John, Taft, Ryan J.
Publicado em 2014

Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia

Por Riley, Lisa G, Menezes, Minal J, Rudinger-Thirion, Joëlle, Duff, Rachael, de Lonlay, Pascale, Rotig, Agnes, Tchan, Michel C, Davis, Mark, Cooper, Sandra T, Christodoulou, John
Publicado em 2013

Whole-exome sequencing identifies novel variants in PNPT1 causing oxidative phosphorylation defects and severe multisystem disease

Por Alodaib, Ahmad, Sobreira, Nara, Gold, Wendy A, Riley, Lisa G, Van Bergen, Nicole J, Wilson, Meredith J, Bennetts, Bruce, Thorburn, David R, Boehm, Corinne, Christodoulou, John
Publicado no Eur J Hum Genet (2017)

Mutation of the Mitochondrial Tyrosyl-tRNA Synthetase Gene, YARS2, Causes Myopathy, Lactic Acidosis, and Sideroblastic Anemia—MLASA Syndrome

Por Riley, Lisa G., Cooper, Sandra, Hickey, Peter, Rudinger-Thirion, Joëlle, McKenzie, Matthew, Compton, Alison, Lim, Sze Chern, Thorburn, David, Ryan, Michael T., Giegé, Richard, Bahlo, Melanie, Christodoulou, John
Publicado em 2010

Whole Exome Sequencing Identifies the Genetic Basis of Late-Onset Leigh Syndrome in a Patient with MRI but Little Biochemical Evidence of a Mitochondrial Disorder

Por Nafisinia, Michael, Guo, Yiran, Dang, Xiao, Li, Jiankang, Chen, Yulan, Zhang, Jianguo, Lake, Nicole J., Gold, Wendy A., Riley, Lisa G., Thorburn, David R., Keating, Brendan, Xu, Xun, Hakonarson, Hakon, Christodoulou, John
Publicado no JIMD Rep (2016)

LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure

Por Riley, Lisa G., Rudinger-Thirion, Joëlle, Schmitz-Abe, Klaus, Thorburn, David R., Davis, Ryan L., Teo, Juliana, Arbuckle, Susan, Cooper, Sandra T., Campagna, Dean R., Frugier, Magali, Markianos, Kyriacos, Sue, Carolyn M., Fleming, Mark D., Christodoulou, John
Publicado no JIMD Rep (2015)

Delayed diagnosis of congenital myasthenia due to associated mitochondrial enzyme defect

Por Guo, Yiran, Menezes, Minal, Menezes, Manoj, Liang, Jinlong, Li, Dong, Riley, Lisa G, Clarke, Nigel F, Ian Andrews, P., Tian, Lifeng, Webster, Richard, Wang, Fengxiang, Liu, Xuanzhu, Shen, Yulan, Thorburn, David R, Keating, Brendan J, Engel, Andrew, Hakonarson, Hakon, Christodoulou, John, Xu, Xun
Publicado no Neuromuscul Disord (2014)

Mutations in LYRM4, encoding iron–sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes

Por Lim, Sze Chern, Friemel, Martin, Marum, Justine E., Tucker, Elena J., Bruno, Damien L., Riley, Lisa G., Christodoulou, John, Kirk, Edwin P., Boneh, Avihu, DeGennaro, Christine M., Springer, Michael, Mootha, Vamsi K., Rouault, Tracey A., Leimkühler, Silke, Thorburn, David R., Compton, Alison G.
Publicado em 2013

MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder

Por Heimer, Gali, Kerätär, Juha M., Riley, Lisa G., Balasubramaniam, Shanti, Eyal, Eran, Pietikäinen, Laura P., Hiltunen, J. Kalervo, Marek-Yagel, Dina, Hamada, Jeffrey, Gregory, Allison, Rogers, Caleb, Hogarth, Penelope, Nance, Martha A., Shalva, Nechama, Veber, Alvit, Tzadok, Michal, Nissenkorn, Andreea, Tonduti, Davide, Renaldo, Florence, Kraoua, Ichraf, Panteghini, Celeste, Valletta, Lorella, Garavaglia, Barbara, Cowley, Mark J., Gayevskiy, Velimir, Roscioli, Tony, Silberstein, Jonathon M., Hoffmann, Chen, Raas-Rothschild, Annick, Tiranti, Valeria, Anikster, Yair, Christodoulou, John, Kastaniotis, Alexander J., Ben-Zeev, Bruria, Hayflick, Susan J.
Publicado no Am J Hum Genet (2016)