-
Hock, DH, Reljic, B, Ang, C-S, Muellner-Wong, L, Mountford, HS, Compton, AG, Ryan, MT, Thorburn, DR, Stroud, DA. HIGD2A is Required for Assembly of the COX3 Module of Human Mitochondrial Complex IV..
Mol Cell Proteomics
19(7)
:
1145 -1160
2020
view publication
-
Rius, R, Compton, AG, Baker, NL, Welch, AE, Coman, D, Kava, MP, Minoche, AE, Cowley, MJ, Thorburn, DR, Christodoulou, J. Application of Genome Sequencing from Blood to Diagnose Mitochondrial Diseases.
Genes
12(4)
:
607
2021
view publication
-
Van Bergen, NJ, Massey, S, Stait, T, Ellery, M, Reljić, B, Formosa, LE, Quigley, A, Dottori, M, Thorburn, D, Stroud, DA, et al. Abnormalities of mitochondrial dynamics and bioenergetics in neuronal cells from CDKL5 deficiency disorder.
Neurobiology of Disease
155:
105370
2021
view publication
-
Wu, Y, Balasubramaniam, S, Rius, R, Thorburn, DR, Christodoulou, J, Goranitis, I. Genomic sequencing for the diagnosis of childhood mitochondrial disorders: a health economic evaluation.
European Journal of Human Genetics
30(5)
:
577 -586
2021
view publication
-
Ng, YS, Bindoff, LA, Gorman, GS, Klopstock, T, Kornblum, C, Mancuso, M, McFarland, R, Sue, CM, Suomalainen, A, Taylor, RW, et al. Mitochondrial disease in adults: recent advances and future promise.
The Lancet Neurology
20(7)
:
573 -584
2021
view publication