david thorburn

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John ChristodoulouMurdoch Children's Research InstitutePatvirtintas el. paštas mcri.edu.au
Alison G ComptonPhD, Murdoch Childrens Research InstitutePatvirtintas el. paštas mcri.edu.au
Mike RyanMonash University, MelbournePatvirtintas el. paštas monash.edu
Ann FrazierMurdoch Children's Research Institute, AustraliaPatvirtintas el. paštas mcri.edu.au
Robert W TaylorNewcastle UniversityPatvirtintas el. paštas ncl.ac.uk
Vamsi MoothaMassachusetts General Hospital, Harvard Medical School, HHMIPatvirtintas el. paštas hms.harvard.edu
Robert McFarlandNewcastle UniversityPatvirtintas el. paštas ncl.ac.uk
Akira OhtakeDepartment of Pediatrics & Clinical Genomics, Faculty of Medicine, Saitama Medical UniversityPatvirtintas el. paštas saitama-med.ac.jp
Sarah E CalvoBroad Institute, Massachusetts General Hospital, Harvard Medical School, Howard Hughes Medical InstPatvirtintas el. paštas broadinstitute.org
Shamima RahmanProfessor of Paediatric Metabolic Medicine, UCLPatvirtintas el. paštas ucl.ac.uk
Elena TuckerMurdoch Childrens Research InstitutePatvirtintas el. paštas mcri.edu.au
David A. StroudDepartment of Biochemistry and Pharmacology, The University of MelbournePatvirtintas el. paštas unimelb.edu.au
Patrick F ChinneryUniversity of CambridgePatvirtintas el. paštas medschl.cam.ac.uk
Michael LazarouWalter and Eliza Hall Institute of Medical Research, co-affiliated with Monash UniversityPatvirtintas el. paštas wehi.edu.au
Josephine M ForbesMater Research Institute - The University of QueenslandPatvirtintas el. paštas mater.uq.edu.au
Philip KuchelEmeritus Professor of Biochemistry, University of SydneyPatvirtintas el. paštas sydney.edu.au
Melanie BahloTheme Leader, Healthy Development and Ageing, The Walter and Eliza Hall Institute ofPatvirtintas el. paštas wehi.edu.au
Doug TurnbullProfessor of Neurology, Newcastle UniversityPatvirtintas el. paštas newcastle.ac.uk
David J. PagliariniHHMI/Washington University School of Medicine in St. LouisPatvirtintas el. paštas wustl.edu
Prof. dr. Jan A.M. SmeitinkProfessor in Mitochondrial MedicinePatvirtintas el. paštas radboudumc.nl

Stebėti

david thorburn

murdoch children's research institute

Patvirtintas el. paštas mcri.edu.au - Pagrindinis puslapis

genetics biochemistry pathology


Pavadinimas Rūšiuoti pagal šaltinius Rūšiuoti pagal metus Rūšiuoti pagal pavadinimą	Cituota Cituota	Metai
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	2322	2008
Mitochondrial diseases GS Gorman, PF Chinnery, S DiMauro, M Hirano, Y Koga, R McFarland, ... Nature reviews Disease primers 2 (1), 1-22, 2016	1599	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	949	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	692	2002
Minimum birth prevalence of mitochondrial respiratory chain disorders in children D Skladal, J Halliday, DR Thorburn Brain 126 (8), 1905-1912, 2003	603	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	573	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	571	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	563	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	528	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	514	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	500	2006
Mitochondrial dysfunction in diabetic kidney disease JM Forbes, DR Thorburn Nature Reviews Nephrology 14 (5), 291-312, 2018	499	2018
Treatment for mitochondrial disorders G Pfeffer, K Majamaa, DM Turnbull, D Thorburn, PF Chinnery Cochrane Database of Systematic Reviews, 2012	475	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	431	2010
Biochemical assays of respiratory chain complex activity DM Kirby, DR Thorburn, DM Turnbull, RW Taylor Methods in cell biology 80, 93-119, 2007	425	2007
Mitochondrial disorders: prevalence, myths and advances DR Thorburn Journal of inherited metabolic disease 27, 349-362, 2004	329	2004
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	327	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	316	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 27 (12), 4228-4237, 2007	295	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	290	2010

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