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Blok, RB, Thorburn, DR, Danks, DM, Dahl, HHM. mtDNA Deletion in a Patient with Symptoms of Mitochondrial Cytopathy but without Ragged Red Fibers.
Molecular Genetics and Metabolism
56(1)
:
26 -30
1995
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Wilson, CJ, Myer, M, Darlow, BA, Stanley, T, Thomson, G, Baumgartner, ER, Kirby, DM, Thorburn, DR. Severe Holocarboxylase Synthetase Deficiency with Incomplete Biotin Responsiveness Resulting in Antenatal Insult in Samoan Neonates.
The Journal of Pediatrics
147(1)
:
115 -118
2005
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Brecht, M, Richardson, M, Taranath, A, Grist, S, Thorburn, D, Bratkovic, D. Leigh Syndrome Caused by the MT-ND5 m.13513G>A Mutation: A Case Presenting with WPW-Like Conduction Defect, Cardiomyopathy, Hypertension and Hyponatraemia.
19:
95 -100
2014
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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.
Journal of Medical Genetics
41(10)
:
784
2004
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Hakonen, AH, Davidzon, G, Salemi, R, Bindoff, LA, Van Goethem, G, DiMauro, S, Thorburn, DR, Suomalainen, A. Abundance of the POLG disease mutations in Europe, Australia, New Zealand, and the United States explained by single ancient European founders.
European Journal of Human Genetics
15(7)
:
779 -783
2007
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