| Index | PMID | Date | Reference |
|---|---|---|---|
| 1 | 11715067 | 2001 | Finnila, S., Tuisku, S., Herva, R., Majamaa, K. (2001) A novel mitochondrial DNA mutation and a mutation in the Notch3 gene in a patient with myopathy and CADASIL Journal of Molecular Medicine . 79 (11): 641-647 . |
| 2 | 17825557 | 2008 | McFarland, R., Swalwell, H., Blakely, E. L., He, L., Groen, E. J., Turnbull, D. M., Bushby, K. M., Taylor, R. W. (2008) The m.5650G>A mitochondrial tRNA(Ala) mutation is pathogenic and causes a phenotype of pure myopathy Neuromuscular Disorders . 18 (1): 63-67 . |
| 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 | 25652200 | 2015 | Gorman, G. S., Schaefer, A. M., Ng, Y., Gomez, N., Blakely, E. L., Alston, C. L., Feeney, C., Horvath, R., Yu-Wai-Man, P., Chinnery, P. F., Taylor, R. W., Turnbull, D. M., McFarland, R. (2015) Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease Annals of Neurology . 77 (5): 753-759 . |
| 5 | 27626666 | 2016 | Kauppila, J. H. K., Baines, H. L., Bratic, A., Simard, M. L., Freyer, C., Mourier, A., Stamp, C., Filograna, R., Larsson, N. G., Greaves, L. C., Stewart, J. B. (2016) A phenotype-driven approach to generate mouse models with pathogenic mtDNA mutations causing mitochondrial disease Cell Reports . 16 (11): 2980-2990 . |
| 6 | 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 . |
| 7 | 30250142 | 2018 | Gammage, P. A., Viscomi, C., Simard, M. L., Costa, A. S. H., Gaude, E., Powell, C. A., Van Haute, L., McCann, B. J., Rebelo-Guiomar, P., Cerutti, R., Zhang, L., Rebar, E. J., Zeviani, M., Frezza, C., Stewart, J. B., Minczuk, M. (2018) Genome editing in mitochondria corrects a pathogenic mtDNA mutation in vivo Nature Medicine . 24 (11): 1691-1695 . |
| 8 | 31181796 | 2019 | Kwon, S., Kim, S. S., Nebeck, H. E., Ahn, E. H. (2019) Immortalization of different breast epithelial cell types results in distinct mitochondrial mutagenesis International Journal of Molecular Sciences . 20 (11): 2813 . |
| 9 | 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 . |
| 10 | 34050192 | 2021 | Zekonyte, U., Bacman, S. R., Smith, J., Shoop, W., Pereira, C. V., Tomberlin, G., Stewart, J., Jantz, D., Moraes, C. T. (2021) Mitochondrial targeted meganuclease as a platform to eliminate mutant mtDNA in vivo Nature Communications . 12 (1): 3210 . |