Index | PMID | Date | Reference |
---|---|---|---|
1 | 11506394 | 2001 | Taivassalo, T., Shoubridge, E. A., Chen, J., Kennaway, N. G., DiMauro, S., Arnold, D. L., Haller, R. G. (2001) Aerobic conditioning in patients with mitochondrial myopathies: physiological, biochemical, and genetic effects Annals of Neurology . 50 (2): 133-141 . |
2 | 15670724 | 2005 | Anitori, R., Manning, K., Quan, F., Weleber, R. G., Buist, N. R., Shoubridge, E. A., Kennaway, N. G. (2005) Contrasting phenotypes in three patients with novel mutations in mitochondrial tRNA genes Molecular Genetics and Metabolism . 84 (2): 176-188 . |
3 | 19273755 | 2009 | Jeppesen, T. D., Orngreen, M. C., van Hall, G., Haller, R. G., Vissing, J. (2009) Fat metabolism during exercise in patients with mitochondrial disease Archives of Neurology . 66 (3): 365-370 . |
4 | 19718780 | 2009 | Elson, J. L., Swalwell, H., Blakely, E. L., McFarland, R., Taylor, R. W., Turnbull, D. M. (2009) Pathogenic mitochondrial tRNA mutations--which mutations are inherited and why? Human Mutation . 30 (11): E984-992 . |
5 | 21712854 | 2011 | Alston, C. L., He, L., Morris, A. A., Hughes, I., de Goede, C., Turnbull, D. M., McFarland, R., Taylor, R. W. (2011) Maternally inherited mitochondrial DNA disease in consanguineous families European Journal of Human Genetics . 19 (12): 1226-1229 . |
6 | 26469001 | 2015 | Rocha, M. C., Grady, J. P., Grunewald, A., Vincent, A., Dobson, P. F., Taylor, R. W., Turnbull, D. M., Rygiel, K. A. (2015) A novel immunofluorescent assay to investigate oxidative phosphorylation deficiency in mitochondrial myopathy: understanding mechanisms and improving diagnosis Scientific Reports . 5 (): 15037 . |
7 | 31965079 | 2020 | Wong, L. C., Chen, T., Wang, J., Tang, S., Schmitt, E. S., Landsverk, M., Li, F., Wang, Y., Zhang, S., Zhang, V. W., Craigen, W. J. (2020) Interpretation of mitochondrial tRNA variants Genetics in Medicine 22 (5): 917-926; Suppl Table 1 . |
8 | 32948797 | 2020 | Warren, C., McDonald, D., Capaldi, R., Deehan, D., Taylor, R. W., Filby, A., Turnbull, D. M., Lawless, C., Vincent, A. E. (2020) Decoding mitochondrial heterogeneity in single muscle fibres by imaging mass cytometry Scientific Reports . 10 (1): 15336 . |