-
Tuppen, HAL, Hogan, VE, He, L, Blakely, EL, Worgan, L, Al-Dosary, M, Saretzki, G, Alston, CL, Morris, AA, Clarke, M, et al.
The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families..
Brain
133(10)
:
2952 -2963
2010
view publication
-
Riley, LG, Cooper, S, Hickey, P, Rudinger-Thirion, J, McKenzie, M, Compton, A, Lim, SC, Thorburn, D, Ryan, MT, Giegé, R, et al.
Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome..
Am J Hum Genet
87(1)
:
52 -59
2010
view publication
-
Tucker, EJ, Compton, AG, Thorburn, DR.
Recent advances in the genetics of mitochondrial encephalopathies..
Curr Neurol Neurosci Rep
10(4)
:
277 -285
2010
view publication
-
Tucker, E, Compton, A, McKenzie, M, Calvo, S, Pagliarini, D, Mootha, V, Ryan, M, Thorburn, D.
74 A splice-site mutation in C8orf38 causes impaired Complex I assembly due to a defect in translation or integration of ND1 into an early assembly intermediate.
Mitochondrion
10(2)
:
221
2010
view publication
-
Lazarou, M, Smith, SM, Thorburn, DR, Ryan, MT, McKenzie, M.
Assembly of nuclear DNA-encoded subunits into mitochondrial complex IV, and their preferential integration into supercomplex forms in patient mitochondria..
FEBS J
276(22)
:
6701 -6713
2009
view publication