-
Van Haute, L, O'Connor, E, Díaz-Maldonado, H, Munro, B, Polavarapu, K, Hock, DH, Arunachal, G, Athanasiou-Fragkouli, A, Bardhan, M, Barth, M, et al.
TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease..
Nat Commun
14(1)
:
1009
2023
view publication
-
Thompson, K, Stroud, DA, Thorburn, DR, Taylor, RW.
Investigation of oxidative phosphorylation activity and complex composition in mitochondrial disease..
Handb Clin Neurol
194:
127 -139
2023
view publication
-
Rius, R, Bennett, NK, Bhattacharya, K, Riley, LG, Yüksel, Z, Formosa, LE, Compton, AG, Dale, RC, Cowley, MJ, Gayevskiy, V, et al.
Biallelic pathogenic variants in COX11 are associated with an infantile-onset mitochondrial encephalopathy..
Hum Mutat
43(12)
:
1970 -1978
2022
view publication
-
Baker, MJ, Crameri, JJ, Thorburn, DR, Frazier, AE, Stojanovski, D.
Mitochondrial biology and dysfunction in secondary mitochondrial disease..
Open Biol
12(12)
:
220274
2022
view publication
-
Wong, W-K, Balasubramaniam, S, Wong, RSH, Graf, N, Thorburn, DR, McFarland, R, Troedson, C.
Mitochondrial respiratory chain dysfunction in a patient with a heterozygous de novo CTBP1 variant..
JIMD Rep
63(6)
:
546 -554
2022
view publication