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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)
:
506 -515
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
80(19)
:
1762 -1770
2013
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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)
:
235 -245
2013
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Tucker, EJ, Wanschers, BFJ, Szklarczyk, R, Mountford, HS, Wijeyeratne, XW, van den Brand, MAM, Leenders, AM, Rodenburg, RJ, Reljić, B, Compton, AG, et al.
Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression..
PLoS Genet
9(12)
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e1004034
2013
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Wang, X, McKenzie, M, Thorburn, D, Ryan, M.
The role of Ndufaf2 in the assembly of mitochondrial complex I.
Biochimica et Biophysica Acta (BBA) - Bioenergetics
1817:
s63
2012
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