MITOMAP References for Mutation G-A at 3890

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Index PMID Date Reference
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 .