| Index | PMID | Date | Reference |
|---|---|---|---|
| 1 | 16769874 | 2006 | Deschauer, M., Swalwell, H., Strauss, M., Zierz, S., Taylor, R. W. (2006) Novel mitochondrial transfer RNA(Phe) gene mutation associated with late-onset neuromuscular disease Archives of Neurology . 63 (6): 902-905 . |
| 2 | 17878308 | 2007 | Ling, J., Roy, H., Qin, D., Rubio, M. A., Alfonzo, J. D., Fredrick, K., Ibba, M. (2007) Pathogenic mechanism of a human mitochondrial tRNAPhe mutation associated with myoclonic epilepsy with ragged red fibers syndrome Proceedings of the National Academy of Sciences . 104 (39): 15299-15304 . |
| 3 | 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 . |