Romanticism : vistas, instances, continuities /

Por Thorburn, David, Hartman, Geoffrey H.
Publicado em 1973

Analysis of the Assembly Profiles for Mitochondrial- and Nuclear-DNA-Encoded Subunits into Complex I

Por Lazarou, Michael, McKenzie, Matthew, Ohtake, Akira, Thorburn, David R., Ryan, Michael T.
Publicado em 2007

Leigh Syndrome Caused by the MT-ND5 m.13513G>A Mutation: A Case Presenting with WPW-Like Conduction Defect, Cardiomyopathy, Hypertension and Hyponatraemia

Por Brecht, Marcus, Richardson, Malcolm, Taranath, Ajay, Grist, Scott, Thorburn, David, Bratkovic, Drago
Publicado no JIMD Rep (2015)

Thiamine-Responsive and Non-responsive Patients with PDHC-E1 Deficiency: A Retrospective Assessment

Por van Dongen, Sanne, Brown, Ruth M., Brown, Garry K., Thorburn, David R., Boneh, Avihu
Publicado no JIMD Rep (2014)

Neuronal and astrocyte dysfunction diverges from embryonic fibroblasts in the Ndufs4(fky/fky) mouse

Por Bird, Matthew J., Wijeyeratne, Xiaonan W., Komen, Jasper C., Laskowski, Adrienne, Ryan, Michael T., Thorburn, David R., Frazier, Ann E.
Publicado no Biosci Rep (2014)

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)

Mitochondrial Respiratory Chain Hepatopathies: Role of Liver Transplantation. A Case Series of Five Patients

Por De Greef, Elisabeth, Christodoulou, John, Alexander, Ian E, Shun, Albert, O’Loughlin, Edward V, Thorburn, David R, Jermyn, Vicki, Stormon, Michael O
Publicado em 2011

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

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

Structural modeling of tissue-specific mitochondrial alanyl-tRNA synthetase (AARS2) defects predicts differential effects on aminoacylation

Por Euro, Liliya, Konovalova, Svetlana, Asin-Cayuela, Jorge, Tulinius, Már, Griffin, Helen, Horvath, Rita, Taylor, Robert W., Chinnery, Patrick F., Schara, Ulrike, Thorburn, David R., Suomalainen, Anu, Chihade, Joseph, Tyynismaa, Henna
Publicado no Front Genet (2015)

NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency

Por Kirby, Denise M., Salemi, Renato, Sugiana, Canny, Ohtake, Akira, Parry, Lee, Bell, Katrina M., Kirk, Edwin P., Boneh, Avihu, Taylor, Robert W., Dahl, Hans-Henrik M., Ryan, Michael T., Thorburn, David R.
Publicado em 2004

IGF2BP2/IMP2 Deficient Mice Resist Obesity through enhanced translation of Ucp1 mRNA and other mRNAs encoding Mitochondrial Proteins

Por Dai, Ning, Zhao, Liping, Wrighting, Diedra, Krämer, Dana, Majithia, Amit, Wang, Yanqun, Cracan, Valentin, Borges-Rivera, Diego, Mootha, Vamsi K., Nahrendorf, Matthias, Thorburn, David R., Minichiello, Liliana, Altshuler, David, Avruch, Joseph
Publicado no Cell Metab (2015)

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)

Evidence for the toxicity of bidirectional transcripts and mitochondrial dysfunction in blood associated with small CGG expansions in the FMR1 gene in patients with parkinsonism

Por Loesch, Danuta Z., Godler, David E., Evans, Andrew, Bui, Quang M., Gehling, Freya, Kotschet, Katya E., Trost, Nicholas, Storey, Elsdon, Stimpson, Paige, Kinsella, Glynda, Francis, David, Thorburn, David R., Venn, Alison, Slater, Howard R., Horne, Malcolm
Publicado em 2011

Functional Characterization of Friedreich Ataxia iPS-Derived Neuronal Progenitors and Their Integration in the Adult Brain

Por Bird, Matthew J., Needham, Karina, Frazier, Ann E., van Rooijen, Jorien, Leung, Jessie, Hough, Shelley, Denham, Mark, Thornton, Matthew E., Parish, Clare L., Nayagam, Bryony A., Pera, Martin, Thorburn, David R., Thompson, Lachlan H., Dottori, Mirella
Publicado em 2014

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)

Mutations in the Gene Encoding 3-Hydroxyisobutyryl-CoA Hydrolase Results in Progressive Infantile Neurodegeneration

Por Loupatty, Ference J., Clayton, Peter T., Ruiter, Jos P. N., Ofman, Rob, IJlst, Lodewijk, Brown, Garry K., Thorburn, David R., Harris, Robert A., Duran, Marinus, DeSousa, Carlos, Krywawych, Steve, Heales, Simon J. R., Wanders, Ronald J. A.
Publicado em 2007

RAGE-Induced Cytosolic ROS Promote Mitochondrial Superoxide Generation in Diabetes

Por Coughlan, Melinda T., Thorburn, David R., Penfold, Sally A., Laskowski, Adrienne, Harcourt, Brooke E., Sourris, Karly C., Tan, Adeline L.Y., Fukami, Kei, Thallas-Bonke, Vicki, Nawroth, Peter P., Brownlee, Michael, Bierhaus, Angelika, Cooper, Mark E., Forbes, Josephine M.
Publicado em 2009

Respiratory chain complex I deficiency caused by mitochondrial DNA mutations

Por Swalwell, Helen, Kirby, Denise M, Blakely, Emma L, Mitchell, Anna, Salemi, Renato, Sugiana, Canny, Compton, Alison G, Tucker, Elena J, Ke, Bi-Xia, Lamont, Phillipa J, Turnbull, Douglass M, McFarland, Robert, Taylor, Robert W, Thorburn, David R
Publicado em 2011