Index | PMID | Date | Reference |
---|---|---|---|
1 | 29174468 | 2018 | Scarpelli, M., Carreno-Gago, L., Russignan, A., de Luna, N., Carnicer-Caceres, C., Ariatti, A., Verriello, L., Devigili, G., Tonin, P., Garcia-Arumi, E., Pinos, T. (2018) Identification and characterization of the novel m.8305C>T MTTK and m.4440G>A MTTM gene mutations causing mitochondrial myopathies Neuromuscular Disorders . 28 (2): 137-143 . |
2 | 29467576 | 2018 | Volobueva, A. S., Melnichenko, A. A., Grechko, A. V., Orekhov, A. N. (2018) Mitochondrial genome variability: the effect on cellular functional activity [Review] Therapeutics and Clinical Risk Management . 14 (): 237-245 |
3 | 29472063 | 2018 | Finsterer, J., Zarrouk-Mahjoub, S. (2018) Modified Yarham and Smith scores for pathogenicity assessment of mtDNA tRNA variants Neuromuscular Disorders . 28 (4): 373-374 . |
4 | 29482911 | 2018 | Scarpelli, M., Carreno-Gago, L., Russignan, A., de Luna, N., Carnicer-Caceres, C., Ariatti, L. A., Verriello, G. D., Tonin, P., Garcia-Arumi, E., Pinos, T. (2018) Modified Yarham and Smith scores for pathogenicity assessment of mtDNA tRNA variants - Response Neuromuscular Disorders . 28 (4): 374-375 . |
5 | 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 . |