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Thorburn, DR.
Future Developments in the Laboratory Diagnosis of OXPHOS Disorders.
187 -199
2005
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Thorburn, DR, Sugiana, C, Salemi, R, Kirby, DM, Worgan, L, Ohtake, A, Ryan, MT.
Biochemical and molecular diagnosis of mitochondrial respiratory chain disorders..
Biochim Biophys Acta
1659(2-3)
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121 -128
2004
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Lamont, PJ, Thorburn, DR, Fabian, V, Vajsar, J, Hawkins, C, Saada Reisch, A, Durling, H, Laing, NG, Nevo, Y.
Nemaline rods and complex I deficiency in three infants with hypotonia, motor delay and failure to thrive..
Neuropediatrics
35(5)
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302 -306
2004
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Kirby, DM, McFarland, R, Ohtake, A, Dunning, C, Ryan, MT, Wilson, C, Ketteridge, D, Turnbull, DM, Thorburn, DR, Taylor, RW.
Mutations of the mitochondrial ND1 gene as a cause of MELAS..
J Med Genet
41(10)
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784 -789
2004
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Kirby, DM, Salemi, R, Sugiana, C, Ohtake, A, Parry, L, Bell, KM, Kirk, EP, Boneh, A, Taylor, RW, Dahl, H-HM, et al.
NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency..
J Clin Invest
114(6)
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837 -845
2004
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