MITOMAP References for Mutation G-A at 3890

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Index PMID Date Reference
1 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 .
2 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 .
3 29253894 2017 Wei, W., Gomez-Duran, A., Hudson, G., Chinnery, P. F. (2017) Background sequence characteristics influence the occurrence and severity of disease-causing mtDNA mutations PLoS Genetics . 13 (12): e1007126 .
4 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 .
5 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 .
6 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 .
7 29987491 2018 O'Keefe, H., Queen, R. A., Meldau, S., Lord, P., Elson, J. L. (2018) Haplogroup context is less important in the penetrance of mitochondrial DNA complex I mutations compared to mt-tRNA mutations Journal of Molecular Evolution . 86 (6): 395-403 .
8 34390870 2021 Vacchiano, V., Caporali, L., La Morgia, C., Carbonelli, M., Amore, G., Bartolomei, I., Cascavilla, M. L., Barboni, P., Lamperti, C., Catania, A., Chan, J. W., Karanja, R., Sadun, A. A., Liguori, R., Bianchi, A., Gavazzi, G., Mascalchi, M., Salvi, F., Carelli, V. (2021) The m.3890G>A/MT-ND1 mtDNA rare pathogenic variant: Expanding clinical and MRI phenotypes Mitochondrion . 60 (): 142-149 .