david thorburn

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John ChristodoulouMurdoch Children's Research InstituteEmail verificata su mcri.edu.au
Alison G ComptonPhD, Murdoch Childrens Research InstituteEmail verificata su mcri.edu.au
Michael T RyanMonash University, MelbourneEmail verificata su monash.edu
Ann FrazierMurdoch Children's Research Institute, AustraliaEmail verificata su mcri.edu.au
Robert W TaylorNewcastle UniversityEmail verificata su ncl.ac.uk
Vamsi MoothaMassachusetts General Hospital, Harvard Medical School, HHMIEmail verificata su hms.harvard.edu
Robert McFarlandNewcastle UniversityEmail verificata su ncl.ac.uk
Akira OhtakeDepartment of Pediatrics & Clinical Genomics, Faculty of Medicine, Saitama Medical UniversityEmail verificata su saitama-med.ac.jp
Sarah E CalvoBroad Institute, Massachusetts General Hospital, Harvard Medical SchoolEmail verificata su broadinstitute.org
Shamima RahmanProfessor of Paediatric Metabolic Medicine, UCLEmail verificata su ucl.ac.uk
Elena TuckerMurdoch Childrens Research InstituteEmail verificata su mcri.edu.au
David A. StroudDepartment of Biochemistry and Pharmacology, The University of MelbourneEmail verificata su unimelb.edu.au
Patrick F ChinneryUniversity of CambridgeEmail verificata su medschl.cam.ac.uk
Michael LazarouWalter and Eliza Hall Institute of Medical Research, co-affiliated with Monash UniversityEmail verificata su wehi.edu.au
Josephine M ForbesMater Research Institute - The University of QueenslandEmail verificata su mater.uq.edu.au
Philip KuchelEmeritus Professor of Biochemistry, University of SydneyEmail verificata su sydney.edu.au
Doug TurnbullProfessor of Neurology, Newcastle UniversityEmail verificata su newcastle.ac.uk
Melanie BahloTheme Leader, Healthy Development and Ageing, The Walter and Eliza Hall Institute ofEmail verificata su wehi.edu.au
David J. PagliariniHHMI/Washington University School of Medicine in St. LouisEmail verificata su wustl.edu
Prof. dr. Jan A.M. SmeitinkProfessor in Mitochondrial MedicineEmail verificata su radboudumc.nl

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david thorburn

murdoch children's research institute

Email verificata su mcri.edu.au - Home page

genetics biochemistry pathology


Titolo Ordina per citazioni Ordina per anno Ordina per titolo	Citata da Citata da	Anno
A mitochondrial protein compendium elucidates complex I disease biology DJ Pagliarini, SE Calvo, B Chang, SA Sheth, SB Vafai, SE Ong, ... Cell 134 (1), 112-123, 2008	2317	2008
Mitochondrial diseases GS Gorman, PF Chinnery, S DiMauro, M Hirano, Y Koga, R McFarland, ... Nature reviews Disease primers 2 (1), 1-22, 2016	1593	2016
Leigh syndrome: clinical features and biochemical and DNA abnormalities S Rahman, RB Blok, HHM Dahl, DM Danks, DM Kirby, CW Chow, ... Annals of Neurology: Official Journal of the American Neurological …, 1996	952	1996
Diagnostic criteria for respiratory chain disorders in adults and children FP Bernier, A Boneh, X Dennett, CW Chow, MA Cleary, DR Thorburn Neurology 59 (9), 1406-1411, 2002	700	2002
Minimum birth prevalence of mitochondrial respiratory chain disorders in children D Skladal, J Halliday, DR Thorburn Brain 126 (8), 1905-1912, 2003	608	2003
Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing SE Calvo, AG Compton, SG Hershman, SC Lim, DS Lieber, EJ Tucker, ... Science translational medicine 4 (118), 118ra10-118ra10, 2012	571	2012
Leigh syndrome: one disorder, more than 75 monogenic causes NJ Lake, AG Compton, S Rahman, DR Thorburn Annals of neurology 79 (2), 190-203, 2016	565	2016
Accessory subunits are integral for assembly and function of human mitochondrial complex I DA Stroud, EE Surgenor, LE Formosa, B Reljic, AE Frazier, MG Dibley, ... Nature 538 (7623), 123-126, 2016	559	2016
RAGE-induced cytosolic ROS promote mitochondrial superoxide generation in diabetes MT Coughlan, DR Thorburn, SA Penfold, A Laskowski, BE Harcourt, ... Journal of the American Society of Nephrology 20 (4), 742-752, 2009	532	2009
Understanding mitochondrial complex I assembly in health and disease M Mimaki, X Wang, M McKenzie, DR Thorburn, MT Ryan Biochimica et Biophysica Acta (BBA)-Bioenergetics 1817 (6), 851-862, 2012	515	2012
Mitochondrial respiratory chain supercomplexes are destabilized in Barth Syndrome patients M McKenzie, M Lazarou, DR Thorburn, MT Ryan Journal of molecular biology 361 (3), 462-469, 2006	501	2006
Mitochondrial dysfunction in diabetic kidney disease JM Forbes, DR Thorburn Nature Reviews Nephrology 14 (5), 291-312, 2018	500	2018
Treatment for mitochondrial disorders G Pfeffer, K Majamaa, DM Turnbull, D Thorburn, PF Chinnery Cochrane Database of Systematic Reviews, 2012	472	2012
High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency SE Calvo, EJ Tucker, AG Compton, DM Kirby, G Crawford, NP Burtt, ... Nature genetics 42 (10), 851-858, 2010	430	2010
Biochemical assays of respiratory chain complex activity DM Kirby, DR Thorburn, DM Turnbull, RW Taylor Methods in cell biology 80, 93-119, 2007	428	2007
The inheritance of mitochondrial DNA heteroplasmy: random drift, selection or both? PF Chinnery, DR Thorburn, DC Samuels, SL White, HHM Dahl, ... Trends in Genetics 16 (11), 500-505, 2000	335	2000
Mitochondrial disorders: prevalence, myths and advances DR Thorburn Journal of inherited metabolic disease 27, 349-362, 2004	325	2004
Respiratory chain complex I deficiency: an underdiagnosed energy generation disorder DM Kirby, M Crawford, MA Cleary, HHM Dahl, X Dennett, DR Thorburn Neurology 52 (6), 1255-1255, 1999	314	1999
Analysis of the assembly profiles for mitochondrial-and nuclear-DNA-encoded subunits into complex I M Lazarou, M McKenzie, A Ohtake, DR Thorburn, MT Ryan Molecular and cellular biology, 2007	291	2007
Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia—MLASA syndrome LG Riley, S Cooper, P Hickey, J Rudinger-Thirion, M McKenzie, ... The American Journal of Human Genetics 87 (1), 52-59, 2010	289	2010

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