| Index | PMID | Date | Reference |
|---|---|---|---|
| 1 | 12736867 | 2003 | Howell, N., Oostra, R. J., Bolhuis, P. A., Spruijt, L., Clarke, L. A., Mackey, D. A., Preston, G., Herrnstadt, C. (2003) Sequence analysis of the mitochondrial genomes from Dutch pedigrees with Leber hereditary optic neuropathy American Journal of Human Genetics . 72 (6): 1460-1469 . |
| 2 | 27164671 | 2016 | Dombi, E., Diot, A., Morten, K., Carver, J., Lodge, T., Fratter, C., Ng, Y. S., Liao, C., Muir, R., Blakely, E. L., Hargreaves, I., Al-Dosary, M., Sarkar, G., Hickman, S. J., Downes, S. M., Jayawant, S., Yu-Wai-Man, P., Taylor, R. W., Poulton, J. (2016) The m.13051G>A mitochondrial DNA mutation results in variable neurology and activated mitophagy Neurology . 86 (20): 1921-1923 . |
| 3 | NA | 2017 | Lloria, X., Catarino, C., Downes, S., Vincent, A., Matloob, S., Silva, M., Klopstock, T. (2017) Clinical experience with idebenone in the treatment of patients harboring rare mutations related to Leber's hereditary optic neuropathy (LHON) Acta Ophthalmologica . 95 (S259): Abstract from the 2017 European Association for Vision and Eye Research Conference . |
| 4 | 32652755 | 2020 | Wong, L. C., Chen, T., Schmitt, E. S., Wang, J., Tang, S., Landsverk, M., Li, F., Zhang, S., Wang, Y., Zhang, V. W., Craigen, W. J. (2020) Clinical and laboratory interpretation of mitochondrial mRNA variants Human Mutatation . 41 (10): . |