David R. Thorburn
1975–2025 年に発表
- 117
- 論文数
- 19,953
- 被引用数
- 76
- h 指数
- 108
- i10 指数
被引用数
引用元
国・地域
機関
分野
- Biochemistry, Genetics and Molecular Biology71.8%
- Medicine18.7%
- Neuroscience3.8%
- Immunology and Microbiology1.3%
- Nursing1.1%
- Environmental Science0.7%
- その他2.6%
トピック
- Mitochondrial Function and Pathology18.8%
- Metabolism and Genetic Disorders8.4%
- ATP Synthase and ATPases Research7.5%
- RNA modifications and cancer2.9%
- Adipose Tissue and Metabolism2.2%
- Genetic Neurodegenerative Diseases1.7%
- その他58.5%
共著者
- John Christodoulou33
- Alison G. Compton29
- Michael T. Ryan22
- Ann E. Frazier21
- David A. Stroud17
- Denise M. Kirby16
- Daniella H. Hock12
- Robert W. Taylor12
- Matthew McKenzie11
- Rocío Rius10
- Tegan Stait10
- Vamsi K. Mootha10
- Douglass M. Turnbull9
- Elena J. Tucker9
- Lisa G. Riley9
- Nicole J. Lake9
- Robert McFarland9
- Diana Stojanovski8
- Sarah E. Calvo8
- Zornitza Stark8
- Akira Ohtake7
- Boris Reljić7
- David Coman7
- Luke E. Formosa7
全論文
- Mitochondrial diseases
著者: Gráinne S. Gorman, Patrick F. Chinnery, Salvatore DiMauro, Michio Hirano, Yasutoshi Koga, Robert McFarland, Anu Suomalainen, David R. Thorburn, Massimo Zeviani, Douglass M. Turnbull - Nature Reviews Disease Primers 2016 被引用: 1,534
- Mitochondrial dysfunction in diabetic kidney disease
著者: Josephine M. Forbes, David R. Thorburn - Nature Reviews Nephrology 2018 被引用: 621
- A Mitochondrial Protein Compendium Elucidates Complex I Disease Biology
著者: David J. Pagliarini, Sarah E. Calvo, Betty Chang, Sunil A. Sheth, Scott B. Vafai, Shao‐En Ong, Geoffrey Walford, Canny Sugiana, Avihu Boneh, William K. Chen, David E. Hill, Marc Vidal, James G. Evans, David R. Thorburn, Steven A. Carr, Vamsi K. Mootha - Cell 2008 被引用: 2,022
- Integrated multi-omics for rapid rare disease diagnosis on a national scale
著者: Sebastian Lunke, Sophie E. Bouffler, Chirag Patel, Sarah A. Sandaradura, Meredith Wilson, Jason Pinner, Matthew F. Hunter, Christopher Barnett, Mathew Wallis, Benjamin Kamien, Tiong Yang Tan, Mary‐Louise Freckmann, Belinda Chong, Dean Phelan, David Francis, Karin S. Kassahn, Thuong Ha, Song Gao, Peer Arts, Matilda R. Jackson, Hamish S. Scott, Stefanie Eggers, Simone M. Rowley, Kirsten Boggs, Ana Rakonjac, Gemma R. Brett, M. De Silva, Amanda Springer, Michelle C. Ward, Kirsty Stallard, Cas Simons, Thomas Conway, Andreas Halman, Nicole J. Van Bergen, Tim Sikora, Liana N. Semcesen, David A. Stroud, Alison G. Compton, David R. Thorburn, Katrina M. Bell, Simon Sadedin, Kathryn N. North, John Christodoulou, Zornitza Stark - Nature Medicine 2023 被引用: 141
- Accessory subunits are integral for assembly and function of human mitochondrial complex I
著者: David A. Stroud, Elliot Surgenor, Luke E. Formosa, Boris Reljić, Ann E. Frazier, Marris G. Dibley, Laura D. Osellame, Tegan Stait, Traude H. Beilharz, David R. Thorburn, Agus Salim, Michael T. Ryan - Nature 2016 被引用: 666
- Leigh syndrome: One disorder, more than 75 monogenic causes
著者: Nicole J. Lake, Alison G. Compton, Shamima Rahman, David R. Thorburn - Annals of Neurology 2015 被引用: 501
- Mitochondrial disease in adults: recent advances and future promise
著者: Yi Shiau Ng, Laurence A. Bindoff, Gráinne S. Gorman, Thomas Klopstock, Cornelia Kornblum, Michelangelo Mancuso, Robert McFarland, Carolyn M. Sue, Anu Suomalainen, Robert W. Taylor, David R. Thorburn, Douglass M. Turnbull - The Lancet Neurology 2021 被引用: 217
- De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome
著者: Yuyang Chen, Ruebena Dawes, Hyung Chul Kim, Alicia Ljungdahl, Sarah L. Stenton, Susan Walker, Jenny Lord, Gabrielle Lemire, Alexandra C Martin-Geary, Vijay S Ganesh, Jialan Ma, Jamie M. Ellingford, Erwan Delage, Elston N. D’Souza, Shan Dong, David R. Adams, Kirsten Allan, Madhura Bakshi, Erin E. Baldwin, Seth Berger, Jonathan A. Bernstein, Ishita Bhatnagar, Ed Blair, Natasha J. Brown, Lindsay C. Burrage, Kimberly A. Chapman, David Coman, Alison G. Compton, Chloe A Cunningham, Precilla D’Souza, Petr Danecek, Emmanuèle C. Délot, Kerith‐Rae Dias, Ellen Roy Elias, Frances Elmslie, Care-Anne Evans, Lisa Ewans, Kimberly Ezell, Jamie L. Fraser, Lyndon Gallacher, Casie A. Genetti, Anne Goriely, Christina Grant, Tobias B. Haack, Jenny Higgs, Anjali Gupta Hinch, Matthew E. Hurles, Alma Kuechler, Katherine Lachlan, Seema R. Lalani, François Lecoquierre, Elsa Leitão, Anna Le Fevre, Richard J. Leventer, Jan Liebelt, Sarah Lindsay, Paul J. Lockhart, Alan Ma, Ellen F. Macnamara, Sahar Mansour, Taylor Maurer, Rodrigo Mendez, Kay Metcalfe, Stephen B. Montgomery, Mariya Moosajee, Marie‐Cécile Nassogne, Serena Neumann, Michael O’Donoghue, Melanie O’Leary, Elizabeth E. Palmer, Nikhil Pattani, John Phillips, Georgia Pitsava, Ryan Pysar, Heidi L. Rehm, Chloe M. Reuter, Nicole Revençu, Angelika Rieß, Rocío Rius, Lance H. Rodan, Tony Roscioli, Jill A. Rosenfeld, Rani Sachdev, Charles Shaw‐Smith, Cas Simons, Sanjay M. Sisodiya, Penny Snell, Laura St Clair, Zornitza Stark, Helen Stewart, Tiong Yang Tan, Natalie B. Tan, Suzanna E.L. Temple, David R. Thorburn, Cynthia J. Tifft, Eloise Uebergang, Grace E. VanNoy, Pradeep Vasudevan, Éric Vilain, David Viskochil ほか 19 名 - Nature 2024 被引用: 118
- Leigh syndrome: Clinical features and biochemical and DNA abnormalities
著者: S. Rahman, Rozanne B. Blok, H H Dahl, D. M. Danks, Denise M. Kirby, C.W. Chow, John Christodoulou, David R. Thorburn - Annals of Neurology 1996 被引用: 780
- Mitochondrial energy generation disorders: genes, mechanisms, and clues to pathology
著者: Ann E. Frazier, David R. Thorburn, Alison G. Compton - Journal of Biological Chemistry 2017 被引用: 263
- Mapping time-course mitochondrial adaptations in the kidney in experimental diabetes
著者: Melinda T. Coughlan, Tuong-Vi Nguyen, Sally A. Penfold, Gavin C. Higgins, Vicki Thallas‐Bonke, Sih Min Tan, Nicole J. Van Bergen, Karly C. Sourris, Brooke E. Harcourt, David R. Thorburn, Ian A. Trounce, Mark E. Cooper, Josephine M. Forbes - Clinical Science 2016 被引用: 168
- High-intensity training induces non-stoichiometric changes in the mitochondrial proteome of human skeletal muscle without reorganisation of respiratory chain content
著者: Cesare Granata, Nikeisha J. Caruana, Javier Botella, Nicholas A. Jamnick, Kevin Huynh, Jujiao Kuang, Hans A. Janssen, Boris Reljić, Natalie A. Mellett, Adrienne Laskowski, Tegan Stait, Ann E. Frazier, Melinda T. Coughlan, Peter J. Meikle, David R. Thorburn, David A. Stroud, David J. Bishop - Nature Communications 2021 被引用: 98
- Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare
著者: Zornitza Stark, Tiffany Boughtwood, Matilda Haas, Jeffrey Braithwaite, Clara Gaff, Ilias Goranitis, Amanda B. Spurdle, David P. Hansen, Oliver Hofmann, Nigel G. Laing, Sylvia A. Metcalfe, Ainsley J. Newson, Hamish S. Scott, Natalie Thorne, Robyn L. Ward, Marcel E. Dinger, Stephanie Best, Janet C. Long, Sean M. Grimmond, John V. Pearson, Nicola Waddell, Christopher Barnett, Matthew Cook, Michael Field, David Fielding, Stephen B. Fox, Jozef Gécz, Adam Jaffé, Richard J. Leventer, Paul J. Lockhart, Sebastian Lunke, Andrew Mallett, Julie McGaughran, Linda Mileshkin, Kátia Nones, Tony Roscioli, Ingrid E. Scheffer, Christopher Semsarian, Cas Simons, David M. Thomas, David R. Thorburn, Richard W. Tothill, Deborah White, Sally L. Dunwoodie, Peter T. Simpson, Peta Phillips, Marie‐Jo Brion, Keri Finlay, Michael C. Quinn, Tessa Mattiske, Emma Tudini, Kirsten Boggs, Séan Murray, Kathy Wells, John Cannings, Andrew Sinclair, John Christodoulou, Kathryn N. North - The American Journal of Human Genetics 2023 被引用: 72
- RAGE-Induced Cytosolic ROS Promote Mitochondrial Superoxide Generation in Diabetes
著者: Melinda T. Coughlan, David R. Thorburn, Sally A. Penfold, Adrienne Laskowski, Brooke E. Harcourt, Karly C. Sourris, Adeline Tan, Kei Fukami, Vicki Thallas‐Bonke, Peter P. Nawroth, Michael Brownlee, Angelika Bierhaus, Mark E. Cooper, Josephine M. Forbes - Journal of the American Society of Nephrology 2009 被引用: 462
- Understanding mitochondrial complex I assembly in health and disease
著者: Masakazu Mimaki, Xiaonan Wang, Matthew McKenzie, David R. Thorburn, Michael T. Ryan - Biochimica et Biophysica Acta (BBA) - Bioenergetics 2011 被引用: 425
- Deleterious variants inCRLS1lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial disease
著者: Richard G. Lee, Shanti Balasubramaniam, Maike Stentenbach, Tom Kralj, Tim McCubbin, Benjamin Scott Padman, Janine Smith, Lisa G. Riley, Archana Priyadarshi, Liuyu Peng, Madison Nuske, Richard Webster, Ken Peacock, Philip A. Roberts, Zornitza Stark, Gabrielle Lemire, Yoko Itō, Kym M. Boycott, Michael T. Geraghty, Jan B. van Klinken, Sacha Ferdinandusse, Ying Zhou, Rebecca Walsh, Esteban Marcellin, David R. Thorburn, Tony Rosciolli, Janice M. Fletcher, Oliver Rackham, Frédéric M. Vaz, Gavin E. Reid, Aleksandra Filipovska - Human Molecular Genetics 2022 被引用: 39
- Fatal Perinatal Mitochondrial Cardiac Failure Caused by Recurrent De Novo Duplications in the ATAD3 Locus
著者: Ann E. Frazier, Alison G. Compton, Yoshihito Kishita, Daniella H. Hock, AnneMarie E. Welch, Sumudu S. C. Amarasekera, Rocío Rius, Luke E. Formosa, Atsuko Imai‐Okazaki, David Francis, Min Wang, Nicole J. Lake, Simone Tregoning, Jafar S. Jabbari, Alexis Lucattini, Kazuhiro R. Nitta, Akira Ohtake, Kei Murayama, David J. Amor, George McGillivray, Flora Y. Wong, Marjo S. van der Knaap, R. Jeroen Vermeulen, Esko Wiltshire, Janice M. Fletcher, Barry Lewis, Gareth Baynam, Carolyn Ellaway, Shanti Balasubramaniam, Kaustuv Bhattacharya, Mary-Louise Freckmann, Susan Arbuckle, Michael Rodriguez, Ryan J. Taft, Simon Sadedin, Mark J. Cowley, André E. Minoche, Sarah E. Calvo, Vamsi K. Mootha, Michael T. Ryan, Yasushi Okazaki, David A. Stroud, Cas Simons, John Christodoulou, David R. Thorburn - Med 2020 被引用: 70
- Sengers Syndrome-Associated Mitochondrial Acylglycerol Kinase Is a Subunit of the Human TIM22 Protein Import Complex
著者: Yilin Kang, David A. Stroud, Michael J. Baker, David P. De Souza, Ann E. Frazier, Michael Liem, Dedreia Tull, Suresh Mathivanan, Malcolm J. McConville, David R. Thorburn, Michael T. Ryan, Diana Stojanovski - Molecular Cell 2017 被引用: 138
- Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted Next-Generation Sequencing
著者: Sarah E. Calvo, Alison G. Compton, Steven G. Hershman, Sze Chern Lim, Daniel S. Lieber, Elena J. Tucker, Adrienne Laskowski, Caterina Garone, Shangtao Liu, David B. Jaffe, John Christodoulou, Janice M. Fletcher, Damien L. Bruno, Jack Goldblatt, Salvatore DiMauro, David R. Thorburn, Vamsi K. Mootha - Science Translational Medicine 2012 被引用: 474
- Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease
著者: Sumudu S. C. Amarasekera, Daniella H. Hock, Nicole J. Lake, Sarah E. Calvo, Sabine Grønborg, Emma Krzesinski, David J. Amor, Michael Fahey, Cas Simons, Flemming Wibrand, Vamsi K. Mootha, Monkol Lek, Sebastian Lunke, Zornitza Stark, Elsebet Østergaard, John Christodoulou, David R. Thorburn, David A. Stroud, Alison G. Compton - Human Molecular Genetics 2023 被引用: 28
- Treatment for mitochondrial disorders
著者: Gerald Pfeffer, Kari Majamaa, Douglass M. Turnbull, David R. Thorburn, Patrick F. Chinnery - Cochrane Database of Systematic Reviews 2012 被引用: 489
- Respiratory chain complex I deficiency caused by mitochondrial DNA mutations
著者: Helen Swalwell, Denise M. Kirby, Emma L. Blakely, Anna Mitchell, Renato Salemi, Canny Sugiana, Alison G. Compton, Elena J. Tucker, Bi‐Xia Ke, Phillipa J. Lamont, Douglass M. Turnbull, Robert McFarland, Robert W. Taylor, David R. Thorburn - European Journal of Human Genetics 2011 被引用: 128
- Mitochondrial Respiratory Chain Supercomplexes Are Destabilized in Barth Syndrome Patients
著者: Matthew McKenzie, Michael Lazarou, David R. Thorburn, Michael T. Ryan - Journal of Molecular Biology 2006 被引用: 427
- Biochemical Assays of Respiratory Chain Complex Activity
著者: Denise M. Kirby, David R. Thorburn, Douglass M. Turnbull, Robert W. Taylor - Methods in cell biology 2007 被引用: 387
