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Kirby, DM, Thorburn, DR, Turnbull, DM, Taylor, RW.
Biochemical assays of respiratory chain complex activity..
80:
93 -119
2007
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van Werkhoven, MA, Thorburn, DR, Gedeon, AK, Pitt, JJ.
Monolysocardiolipin in cultured fibroblasts is a sensitive and specific marker for Barth Syndrome..
J Lipid Res
47(10)
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2346 -2351
2006
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Sugiana, C, Dunning, CJR, Lazarou, M, McKenzie, M, Connelly, AA, Fletcher, JM, Thorburn, DR, Ryan, MT.
Mutations in the assembly factor NDUFAF1 are a novel cause of mitochondrial Complex I deficiency.
Mitochondrion
6(5)
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12
2006
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Pagnamenta, AT, Taanman, J-W, Wilson, CJ, Anderson, NE, Marotta, R, Duncan, AJ, Bitner-Glindzicz, M, Taylor, RW, Laskowski, A, Thorburn, DR, et al.
Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase gamma..
Hum Reprod
21(10)
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2467 -2473
2006
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McKenzie, M, Lazarou, M, Thorburn, DR, Ryan, MT.
Mitochondrial respiratory chain supercomplexes are destabilized in Barth Syndrome patients..
J Mol Biol
361(3)
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462 -469
2006
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