Index | PMID | Date | Reference |
---|---|---|---|
1 | 15320572 | 2004 | Menotti, F., Brega, A., Diegoli, M., Grasso, M., Modena, M. G., Arbustini, E. (2004) A novel mtDNA point mutation in tRNA(Val) is associated with hypertrophic cardiomyopathy and MELAS Italian Heart Journal . 5 (6): 460-465 . |
2 | 18314141 | 2008 | Tanji, K., Kaufmann, P., Naini, A. B., Lu, J., Parsons, T. C., Wang, D., Willey, J. Z., Shanske, S., Hirano, M., Bonilla, E., Khandji, A., Dimauro, S., Rowland, L. P. (2008) A novel tRNA(Val) mitochondrial DNA mutation causing MELAS Journal of the Neurological Sciences . 270 (1-2): 23-27 . |
3 | 23847141 | 2013 | Bannwarth, S., Procaccio, V., Lebre, A. S., Jardel, C., Chaussenot, A., Hoarau, C., Maoulida, H., Charrier, N., Gai, X., Xie, H. M., Ferre, M., Fragaki, K., Hardy, G., Mousson de Camaret, B., Marlin, S., Dhaenens, C. M., Slama, A., Rocher, C., Paul Bonnefont, J., Rotig, A., Aoutil, N., Gilleron, M., Desquiret-Dumas, V., Reynier, P., Ceresuela, J., Jonard, L., Devos, A., Espil-Taris, C., Martinez, D., Gaignard, P., Le Quan Sang, K. H., Amati-Bonneau, P., Falk, M. J., Florentz, C., Chabrol, B., Durand-Zaleski, I., Paquis-Flucklinger, V. (2013) Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders Journal of Medical Genetics . 50 (10): 704-714 . |
4 | 24691472 | 2014 | Fraidakis, M. J., Jardel, C., Allouche, S., Nelson, I., Aure, K., Slama, A., Lemiere, I., Thenint, J. P., Hamon, J. B., Zagnoli, F., Heron, D., Sedel, F., Lombes, A. (2014) Phenotypic diversity associated with the MT-TV gene m.1644G>A mutation, a matter of quantity Mitochondrion . 15 (): 34-39 . |
5 | 31965079 | 2020 | Wong, L. C., Chen, T., Wang, J., Tang, S., Schmitt, E. S., Landsverk, M., Li, F., Wang, Y., Zhang, S., Zhang, V. W., Craigen, W. J. (2020) Interpretation of mitochondrial tRNA variants Genetics in Medicine 22 (5): 917-926; Suppl Table 1 . |
6 | 34298071 | 2021 | Imai-Okazaki, A., Matsunaga, A., Yatsuka, Y., Nitta, K. R., Kishita, Y., Sugiura, A., Sugiyama, Y., Fushimi, T., Shimura, M., Ichimoto, K., Tajika, M., Tominaga, M., Ebihara, T., Matsuhashi, T., Tsuruoka, T., Kohda, M., Hirata, T., Harashima, H., Nojiri, S., Takeda, A., Nakaya, A., Kogaki, S., Sakata, Y., Ohtake, A., Murayama, K., Okazaki, Y. (2021) Long-term prognosis and genetic background of cardiomyopathy in 223 pediatric mitochondrial disease patients International Journal of Cardiology . S0167-5273 (21): 01080-01089 . |