Index | PMID | Date | Reference |
---|---|---|---|
1 | 12112111 | 2002 | Kim, J. Y., Hwang, J. M., Park, S. S. (2002) Mitochondrial DNA C4171A/ND1 is a novel primary causative mutation of Leber's hereditary optic neuropathy with a good prognosis Annals of Neurology . 51 (5): 630-634 . |
2 | 15972314 | 2006 | Mitchell, A. L., Elson, J. L., Howell, N., Taylor, R. W., Turnbull, D. M. (2006) Sequence variation in mitochondrial complex I genes: mutation or polymorphism? Journal of Medical Genetics . 43 (2): 175-179 . |
3 | NA | 2007 | Cui, S. L., Yang, L., Wang, W., Shang, J., Zhang, X. J. (2007) [Rare primary mt-DNA mutations in Leber hereditary optic neuropathy] Ophthalmology in China . 16 (6): 382-385 . |
4 | 19001017 | 2009 | Yu-Wai-Man, P., Griffiths, P. G., Hudson, G., Chinnery, P. F. (2009) Inherited mitochondrial optic neuropathies [Review] Journal of Medical Genetics . 46 (3): 145-158 . |
5 | 19555656 | 2009 | Yang, J., Zhu, Y., Chen, L., Zhang, H., Tong, Y., Huang, D., Zhang, Z., Chen, S., Han, X., Ma, X. (2009) Novel A14841G mutation is associated with high penetrance of LHON/C4171A family Biochemical and Biophysical Research Communications . 386 (4): 693-696 . |
6 | 21457906 | 2011 | Pereira, L., Soares, P., Radivojac, P., Li, B., Samuels, D. C. (2011) Comparing phylogeny and the predicted pathogenicity of protein variations reveals equal purifying selection across the global human mtDNA diversity American Journal of Human Genetics . 88 (4): 433-439 . |
7 | 22879922 | 2012 | Achilli, A., Iommarini, L., Olivieri, A., Pala, M., Kashani, B. H., Reynier, P., La Morgia, C., Valentino, M. L., Liguori, R., Pizza, F., Barboni, P., Sadun, F., De Negri, A., Zeviani, M., Dollfus, H., Moulignier, A., Ducos, G., Orssaud, C., Bonneau, D., Procaccio, V., Leo-Kottler, B., Fauser, S., Wissinger, B., Amati-Bonneau, P., Torroni, A., Carelli, V. (2012) Rare primary mitochondrial DNA mutations and synergistic variants in Leber's hereditary optic neuropathy PLOS One . 7 (8): e42242 . |