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SURF1 deficiency: a multi-centre natural history study..
Orphanet J Rare Dis
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Rahman, S, Thorburn, DR.
189th ENMC international workshop complex I deficiency: diagnosis and treatment 20-22 April 2012, Naarden, The Netherlands..
Neuromuscul Disord
23(6)
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2013
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Lieber, DS, Calvo, SE, Shanahan, K, Slate, NG, Liu, S, Hershman, SG, Gold, NB, Chapman, BA, Thorburn, DR, Berry, GT, et al.
Targeted exome sequencing of suspected mitochondrial disorders..
Neurology
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Murad, NAA, Cullen, JK, McKenzie, M, Ryan, MT, Thorburn, D, Gueven, N, Kobayashi, J, Birrell, G, Yang, J, Dörk, T, et al.
Mitochondrial dysfunction in a novel form of autosomal recessive ataxia..
Mitochondrion
13(3)
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Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression..
PLoS Genet
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