david thorburn

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John ChristodoulouMurdoch Children's Research InstituteVerifierad e-postadress på mcri.edu.au
Michael T RyanMonash University, MelbourneVerifierad e-postadress på monash.edu
Alison G ComptonPhD, Murdoch Childrens Research InstituteVerifierad e-postadress på mcri.edu.au
Matthew McKenzie PhDDeakin UniversityVerifierad e-postadress på deakin.edu.au
Ann FrazierMurdoch Children's Research Institute, AustraliaVerifierad e-postadress på mcri.edu.au
Robert W TaylorNewcastle UniversityVerifierad e-postadress på ncl.ac.uk
Akira OhtakeDepartment of Pediatrics & Clinical Genomics, Faculty of Medicine, Saitama Medical UniversityVerifierad e-postadress på saitama-med.ac.jp
Vamsi MoothaMassachusetts General Hospital, Harvard Medical School, HHMIVerifierad e-postadress på hms.harvard.edu
Robert McFarlandNewcastle UniversityVerifierad e-postadress på ncl.ac.uk
Shamima RahmanProfessor of Paediatric Metabolic Medicine, UCLVerifierad e-postadress på ucl.ac.uk
Elena TuckerMurdoch Childrens Research InstituteVerifierad e-postadress på mcri.edu.au
Patrick F ChinneryUniversity of CambridgeVerifierad e-postadress på medschl.cam.ac.uk
Sarah E CalvoBroad Institute, Massachusetts General Hospital, Harvard Medical SchoolVerifierad e-postadress på broadinstitute.org
David A. StroudDepartment of Biochemistry and Molecular Biology, The University of MelbourneVerifierad e-postadress på unimelb.edu.au
Michael LazarouWalter and Eliza Hall Institute of Medical Research, co-affiliated with Monash UniversityVerifierad e-postadress på monash.edu
Josephine M ForbesMater Research Institute - The University of QueenslandVerifierad e-postadress på mater.uq.edu.au
Philip KuchelEmeritus Professor of Biochemistry, University of SydneyVerifierad e-postadress på sydney.edu.au
Doug TurnbullProfessor of Neurology, Newcastle UniversityVerifierad e-postadress på newcastle.ac.uk
Melanie BahloTheme Leader, Healthy Development and Ageing, The Walter and Eliza Hall Institute ofVerifierad e-postadress på wehi.edu.au
David J. PagliariniWashington University School of Medicine in St. LouisVerifierad e-postadress på wustl.edu

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david thorburn

murdoch children's research institute

Verifierad e-postadress på mcri.edu.au - Startsida

genetics biochemistry pathology


Titel Sortera efter citat Sortera efter år Sortera efter titel	Citeras av Citeras av	År
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	2001	2008
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	863	1996
Mitochondrial diseases GS Gorman, PF Chinnery, S DiMauro, M Hirano, Y Koga, R McFarland, ... Nature reviews Disease primers 2 (1), 1-22, 2016	856	2016
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	622	2002
Minimum birth prevalence of mitochondrial respiratory chain disorders in children D Skladal, J Halliday, DR Thorburn Brain 126 (8), 1905-1912, 2003	532	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	491	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	444	2006
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	440	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	401	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	393	2010
Treatment for mitochondrial disorders G Pfeffer, K Majamaa, DM Turnbull, D Thorburn, PF Chinnery Cochrane Database of Systematic Reviews, 2012	389	2012
Biochemical assays of respiratory chain complex activity DM Kirby, DR Thorburn, DM Turnbull, RW Taylor Methods in cell biology 80, 93-119, 2007	385	2007
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	369	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	340	2016
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	301	2000
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	280	1999
Mitochondrial disorders: prevalence, myths and advances DR Thorburn Journal of inherited metabolic disease 27 (3), 349-362, 2004	274	2004
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 27 (12), 4228-4237, 2007	270	2007
Risk of developing a mitochondrial DNA deletion disorder PF Chinnery, S DiMauro, S Shanske, EA Schon, M Zeviani, C Mariotti, ... The Lancet 364 (9434), 592-596, 2004	254	2004
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	251	2010

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