Index | PMID | Date | Reference |
---|---|---|---|
1 | 11799391 | 2002 | McFarland, R., Clark, K. M., Morris, A. A., Taylor, R. W., Macphail, S., Lightowlers, R. N., Turnbull, D. M. (2002) Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation Nature Genetics . 30 (2): 145-146 . |
2 | 17886296 | 2007 | Schaefer, A. M., McFarland, R., Blakely, E. L., He, L., Whittaker, R. G., Taylor, R. W., Chinnery, P. F., Turnbull, D. M. (2007) Prevalence of mitochondrial DNA disease in adults Annals of Neurology . 63 (1): 35-39 . |
3 | 18400783 | 2008 | Rorbach, J., Yusoff, A. A., Tuppen, H., Abg-Kamaludin, D. P., Chrzanowska-Lightowlers, Z. M., Taylor, R. W., Turnbull, D. M., McFarland, R., Lightowlers, R. N. (2008) Overexpression of human mitochondrial valyl tRNA synthetase can partially restore levels of cognate mt-tRNAVal carrying the pathogenic C25U mutation Nucleic Acids Research . 36 (9): 3065-3074 . |
4 | 25652200 | 2015 | Gorman, G. S., Schaefer, A. M., Ng, Y., Gomez, N., Blakely, E. L., Alston, C. L., Feeney, C., Horvath, R., Yu-Wai-Man, P., Chinnery, P. F., Taylor, R. W., Turnbull, D. M., McFarland, R. (2015) Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease Annals of Neurology . 77 (5): 753-759 . |
5 | 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 . |