Index | PMID | Date | Reference |
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1 | 18504678 | 2008 | Moslemi, A. R., Darin, N., Tulinius, M., Wiklund, L. M., Holme, E., Oldfors, A. (2008) Progressive encephalopathy and complex I deficiency associated with mutations in MTND1 Neuropediatrics . 39 (1): 24-28 . |
2 | 23246842 | 2013 | Caporali, L., Ghelli, A. M., Iommarini, L., Maresca, A., Valentino, M. L., La Morgia, C., Liguori, R., Zanna, C., Barboni, P., De Nardo, V., Martinuzzi, A., Rizzo, G., Tonon, C., Lodi, R., Calvaruso, M. A., Cappelletti, M., Porcelli, A. M., Achilli, A., Pala, M., Torroni, A., Carelli, V. (2013) Cybrid studies establish the causal link between the mtDNA m.3890G>A/MT-ND1 mutation and optic atrophy with bilateral brainstem lesions Biochimica et Biophysica Acta . 1832 (3): 445-452 . |
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 | 27798429 | 2017 | Murray, J. J., Nolan, K. W., McClelland, C., Lee, M. S. (2017) Leber hereditary optic neuropathy: visual recovery in a patient with the rare m.3890G>A point mutation Journal of Neuro-Ophthalmology . 37 (2): 166-171 . |
5 | 30095618 | 2018 | Ma, Y. Y., Li, X. Y., Li, Z. Q., Song, J. Q., Hou, J., Li, J. H., Sun, L., Jiang, J., Yang, Y. L. (2018) Clinical, biochemical, and genetic analysis of the mitochondrial respiratory chain complex I deficiency Medicine (Baltimore) . 97 (32): e11606 . |