Index | PMID | Date | Reference |
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1 | 18603265 | 2008 | Cardaioli, E., Da Pozzo, P., Malfatti, E., Gallus, G. N., Rubegni, A., Malandrini, A., Gaudiano, C., Guidi, L., Serni, G., Berti, G., Dotti, M. T., Federico, A. (2008) Chronic progressive external ophthalmoplegia: a new heteroplasmic tRNA(Leu(CUN)) mutation of mitochondrial DNA Journal of the Neurological Sciences . 272 (40545): 106-109 . |
2 | 20163808 | 2010 | Ronchi, D., Virgilio, R., Bordoni, A., Fassone, E., Sciacco, M., Ciscato, P., Moggio, M., Govoni, A., Corti, S., Bresolin, N., Comi, G. P. (2010) The m.12316G>A mutation in the mitochondrial tRNA Leu(CUN) gene is associated with mitochondrial myopathy and respiratory impairment Journal of the Neurological Sciences . 292 (1-2): 107-110 . |
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 . |