| Index | PMID | Date | Reference |
|---|---|---|---|
| 1 | 10488907 | 1999 | Shtilbans, A., El-Schahawi, M., Malkin, E., Shanske, S., Musumeci, O., DiMauro, S. (1999) A novel mutation in the mitochondrial DNA transfer ribonucleic acidAsp gene in a child with myoclonic epilepsy and psychomotor regression Journal of Child Neurology . 14 (9): 610-613 . |
| 2 | 27119776 | 2016 | Souren, N. Y., Gerdes, L. A., Kumpfel, T., Lutsik, P., Klopstock, T., Hohlfeld, R., Walter, J. (2016) Mitochondrial DNA variation and heteroplasmy in monozygotic twins clinically discordant for multiple sclerosis Human Mutation . 37 (8): 765-775 . |
| 3 | 32970680 | 2020 | Toncheva, D., Serbezov, D., Karachanak-Yankova, S., Nesheva, D. (2020) Ancient mitochondrial DNA pathogenic variants putatively associated with mitochondrial disease PLoS One 15 (9): e0233666 . |