| Index | PMID | Date | Reference |
|---|---|---|---|
| 1 | 15054399 | 2004 | Maniura-Weber, K., Taylor, R. W., Johnson, M. A., Chrzanowska-Lightowlers, Z., Morris, A. A., Charlton, C. P., Turnbull, D. M., Bindoff, L. A. (2004) A novel point mutation in the mitochondrial tRNA(Trp) gene produces a neurogastrointestinal syndrome European Journal of Human Genetics . 12 (6): 509-512 . |
| 2 | 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 . |
| 3 | 29253894 | 2017 | Wei, W., Gomez-Duran, A., Hudson, G., Chinnery, P. F. (2017) Background sequence characteristics influence the occurrence and severity of disease-causing mtDNA mutations PLoS Genetics . 13 (12): e1007126 . |
| 4 | 39380483 | 2024 | Lu, J. L., Dai, Y., Ji, K., Peng, G. X., Li, H., Yan, C., Shen, B., Zhou, X. L. (2024) Taurine hypomodification underlies mitochondrial tRNATrp-related genetic diseases Nucleic Acids Research . 52 (21): 13351–13367 . |