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 . |