Index | PMID | Date | Reference |
---|---|---|---|
1 | 24800637 | 2014 | Martinez-Romero, I., Herrero-Martin, M. D., Llobet, L., Emperador, S., Martin-Navarro, A., Narberhaus, B., Ascaso, F. J., Lopez-Gallardo, E., Montoya, J., Ruiz-Pesini, E. (2014) New MT-ND1 pathologic mutation for Leber hereditary optic neuropathy Clinical and Experimental Ophthalmology . 42 (9): 856-864 . |
2 | 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 . |
3 | 27449621 | 2016 | Sheremet, N. L., Nevinitsyna, T. A., Zhorzholadze, N. V., Ronzina, I. A., Itkis, Y. S., Krylova, T. D., Tsygankova, P. G., Malakhova, V. A., Zakharova, E. Y., Tokarchuk, A. V., Panteleeva, A. A., Karger, E. M., Lyamzaev, K. G., Avetisov, S. E. (2016) Previously unclassified mutation of mtDNA m.3472T>C: evidence of pathogenicity in Leber's hereditary optic neuropathy Biochemistry (Moscow) . 81 (7): 748-754 . |
4 | 28862604 | 2017 | Krylova, T. D., Tsygankova, P. G., Itkis, Y. S., Sheremet, N. L., Nevinitsyna, T. A., Mikhaylova, S. V., Zakharova, E. Y. (2017) [High resolution respirometry in diagnostic of mitochondrial disorders caused by mitochondrial complex I deficiency] Biomeditsinskaia Khimiia . 63 (4): 327-333 . |
5 | 28870561 | 2017 | Seong, M. W., Choi, J., Park, S. S., Kim, J. Y., Hwang, J. M. (2017) MtDNA m.3472T>C could be classified as a primary mutation of Leber's hereditary optic neuropathy Journal of the Neurological Sciences . 380 (): 174-176 . |
6 | 28992945 | 2017 | Finsterer, J., Zarrouk-Mahjoub, S. (2017) Pathogenicity of the LHON variant m.3472T>C is uncertain Journal of the Neurological Sciences . 382 (): 164-165 . |
7 | 28992946 | 2017 | Seong, M. W., Choi, J., Park, S. S., Kim, J. Y., Hwang, J. M. (2017) Author reply: "MtDNA m.3472T>C could be classified as a primary mutation of Leber's hereditary optic neuropathy" Journal of the Neurological Sciences . 382 (): 166-167 . |