| 1 |
23266623
| 2013 |
Duno, M., Wibrand, F., Baggesen, K., Rosenberg, T., Kjaer, N., Frederiksen, A. L. (2013) A novel mitochondrial mutation m.8989G>C associated with neuropathy, ataxia, retinitis pigmentosa - the NARP syndrome Gene . 515 (2): 372-375 . |
| 2 |
30763462
| 2019 |
Ganetzky, R. D., Stendel, C., McCormick, E. M., Zolkipli-Cunningham, Z., Goldstein, A. C., Klopstock, T., Falk, M. J. (2019) MT-ATP6 mitochondrial disease variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases Human Mutation . 40 (5): 499-515 . |
| 3 |
34969639
| 2022 |
Wang, J., Balciuniene, J., Diaz-Miranda, M., McCormick, E., Eshghi, E., Muir, A. B., Cao, K., Troiani, J., Moseley, A., Fan, Z., Zolkipli-Cunningham, Z., Goldstein, A., Ganetzky, R. D., Muraresku, C. C., Peterson, J., Spinner, N., Wallace, D. C., Dulik, M., Falk, M. J. (2022) Advanced approach for comprehensive mtDNA genome testing in mitochondrial disease Molecular Genetics and Metabolism . 135 (1): 93-101 . |