david thorburn
david thorburn
Verifierad e-postadress på mcri.edu.au - Startsida
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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
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
Mitochondrial diseases
GS Gorman, PF Chinnery, S DiMauro, M Hirano, Y Koga, R McFarland, ...
Nature reviews Disease primers 2 (1), 1-22, 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
Minimum birth prevalence of mitochondrial respiratory chain disorders in children
D Skladal, J Halliday, DR Thorburn
Brain 126 (8), 1905-1912, 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
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
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
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
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
Treatment for mitochondrial disorders
G Pfeffer, K Majamaa, DM Turnbull, D Thorburn, PF Chinnery
Cochrane Database of Systematic Reviews, 2012
Biochemical assays of respiratory chain complex activity
DM Kirby, DR Thorburn, DM Turnbull, RW Taylor
Methods in cell biology 80, 93-119, 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
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
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
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
Mitochondrial disorders: prevalence, myths and advances
DR Thorburn
Journal of inherited metabolic disease 27 (3), 349-362, 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
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
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
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