-
McKnight, CL, Low, YC, Elliott, DA, Thorburn, DR, Frazier, AE. Modelling Mitochondrial Disease in Human Pluripotent Stem Cells: What Have We Learned?.
International Journal of Molecular Sciences
22(14)
:
7730
2021
view publication
-
Guimier, A, Achleitner, MT, Moreau de Bellaing, A, Edwards, M, de Pontual, L, Mittal, K, Dunn, KE, Grove, ME, Tysoe, CJ, Dimartino, C, et al. PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.
Genetics in Medicine
23(12)
:
2415 -2425
2021
view publication
-
Cloney, T, Gallacher, L, Pais, LS, Tan, NB, Yeung, A, Stark, Z, Brown, NJ, McGillivray, G, Delatycki, MB, de Silva, MG, et al. Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria’s Undiagnosed Diseases Program.
Journal of Medical Genetics
59(8)
:
748 -758
2021
view publication
-
Granata, C, Caruana, NJ, Botella, J, Jamnick, NA, Huynh, K, Kuang, J, Janssen, HA, Reljic, B, Mellett, NA, Laskowski, A, et al. High-intensity training induces non-stoichiometric changes in the mitochondrial proteome of human skeletal muscle without reorganisation of respiratory chain content.
Nature Communications
12(1)
:
7056
2021
view publication
-
Van Bergen, NJ, Hock, DH, Spencer, L, Massey, S, Stait, T, Stark, Z, Lunke, S, Roesley, A, Peters, H, Lee, JY, et al. Biallelic Variants in PYROXD2 Cause a Severe Infantile Metabolic Disorder Affecting Mitochondrial Function.
International Journal of Molecular Sciences
23(2)
:
986
2022
view publication