-
Rius, R, Bennett, NK, Bhattacharya, K, Riley, LG, YĆ¼ksel, 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
-
Lee, RG, Balasubramaniam, S, Stentenbach, M, Kralj, T, McCubbin, T, Padman, B, Smith, J, Riley, LG, Priyadarshi, A, Peng, L, et al.
Deleterious variants in CRLS1 lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial disease..
Hum Mol Genet
31(21)
:
3597 -3612
2022
view publication
-
Andzelm, MM, Balasubramaniam, S, Yang, E, Compton, AG, Millington, K, Zhu, J, Anselm, I, Rodan, LH, Thorburn, DR, Christodoulou, J, et al.
Expansion of the clinical and neuroimaging spectrum associated with NDUFS8-related disorder..
JIMD Rep
63(5)
:
391 -399
2022
view publication