Index | PMID | Date | Reference |
---|---|---|---|
1 | 15505787 | 2004 | Valentino, M. L., Barboni, P., Ghelli, A., Bucchi, L., Rengo, C., Achilli, A., Torroni, A., Lugaresi, A., Lodi, R., Barbiroli, B., Dotti, M., Federico, A., Baruzzi, A., Carelli, V. (2004) The ND1 gene of complex I is a mutational hot spot for Leber's hereditary optic neuropathy Annals of Neurology . 56 (5): 631-41 . |
2 | 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 . |
3 | 19098324 | 2009 | Ramos, C. d. V. F., Bellusci, C., Savini, G., Carbonelli, M., Berezovsky, A., Tamaki, C., Cinoto, R., Sacai, P. Y., Moraes-Filho, M. N., Miura, H. M., Valentino, M. L., Iommarini, L., De Negri, A. M., Sadun, F., Cortelli, P., Montagna, P., Salomao, S. R., Sadun, A. A., Carelli, V., Barboni, P. (2009) Association of optic disc size with development and prognosis of Leber's hereditary optic neuropathy Investigative Ophthalmology and Visual Science . 50 (4): 1666-1674 . |
4 | 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 . |
5 | 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 . |
6 | 27177320 | 2016 | Ji, Y., Liang, M., Zhang, J., Zhu, L., Zhang, Z., Fu, R., Liu, X., Zhang, M., Fu, Q., Zhao, F., Tong, Y., Sun, Y., Jiang, P., Guan, M. X. (2016) Mitochondrial ND1 Variants in 1281 Chinese Subjects With Leber's hereditary optic neuropathy Investigative Ophthalmology and Visual Science . 57 (6): 2377-2789 . |