-
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
view publication
-
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
view publication
-
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)
:
e1004034
2013
view publication
-
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
view publication
-
Hershman, SG, Tucker, EJ, Köhrer, C, Belcher-Timme, CA, Patel, J, Goldberger, OA, Christodoulou, J, Silberstein, JM, McKenzie, M, Ryan, MT, et al.
Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation.
Mitochondrion
12(5)
:
583
2012
view publication