| Index | PMID | Date | Reference |
|---|---|---|---|
| 1 | 15184630 | 2004 | Mancuso, M., Filosto, M., Mootha, V. K., Rocchi, A., Pistolesi, S., Murri, L., DiMauro, S., Siciliano, G. (2004) A novel mitochondrial tRNAPhe mutation causes MERRF syndrome Neurology . 62 (11): 2119-2121 . |
| 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 . |
| 4 | 20142618 | 2010 | Zsurka, G., Hampel, K. G., Nelson, I., Jardel, C., Mirandola, S. R., Sassen, R., Kornblum, C., Marcorelles, P., Lavoue, S., Lombes, A., Kunz, W. S. (2010) Severe epilepsy as the major symptom of new mutations in the mitochondrial tRNA(Phe) gene Neurology . 74 (6): 507-512 . |