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Takakubo, F, Cartwright, P, Hoogenraad, N, Thorburn, DR, Collins, F, Lithgow, T, Dahl, HH. An amino acid substitution in the pyruvate dehydrogenase E1 alpha gene, affecting mitochondrial import of the precursor protein..
American Journal of Human Genetics
57(4)
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772 -780
1995
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Kirby, DM, Crawford, M, Cleary, MA, Dahl, HH, Dennett, X, Thorburn, DR. Respiratory chain complex I deficiency: an underdiagnosed energy generation disorder..
Neurology
52(6)
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1255 -1264
1999
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Frazier, AE, Holt, IJ, Spinazzola, A, Thorburn, DR. Reply: Genotype-phenotype correlation in ATAD3A deletions: not just of scientific relevance..
Brain
140(11)
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e67
2017
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Kang, Y, Stroud, DA, Baker, MJ, De Souza, DP, Frazier, AE, Liem, M, Tull, D, Mathivanan, S, McConville, MJ, Thorburn, DR, et al. Sengers Syndrome-Associated Mitochondrial Acylglycerol Kinase Is a Subunit of the Human TIM22 Protein Import Complex.
Molecular Cell
67(3)
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457 -470.e5
2017
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Frazier, AE, Thorburn, DR, Compton, AG. Mitochondrial energy generation disorders: genes, mechanisms, and clues to pathology.
Journal of Biological Chemistry
294(14)
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5386 -5395
2017
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