Index | PMID | Date | Reference |
---|---|---|---|
1 | 15896721 | 2005 | Qian, Y., Zhou, X., Hu, Y., Tong, Y., Li, R., Lu, F., Yang, H., Mo, J. Q., Qu, J., Guan, M. X. (2005) Clinical evaluation and mitochondrial DNA sequence analysis in three Chinese families with Leber's hereditary optic neuropathy Biochemical and Biophysical Research Communications . 332 (2): 614-621 . |
2 | 18440284 | 2008 | Zhang, S., Wang, L., Hao, Y., Wang, P., Hao, P., Yin, K., Wang, Q. K., Liu, M. (2008) T14484C and T14502C in the mitochondrial ND6 gene are associated with Leber's hereditary optic neuropathy in a Chinese family Mitochondrion . 8 (3): 205-210 . |
3 | 19732751 | 2009 | Zhao, F., Guan, M., Zhou, X., Yuan, M., Liang, M., Liu, Q., Liu, Y., Zhang, Y., Yang, L., Tong, Y., Wei, Q. P., Sun, Y. H., Qu, J., Guan, M. X. (2009) Leber's hereditary optic neuropathy is associated with mitochondrial ND6 T14502C mutation Biochemical and Biophysical Research Communications . 389 (3): 466-472 . |
4 | 20691156 | 2010 | Zhang, J., Zhou, X., Zhou, J., Li, C., Zhao, F., Wang, Y., Meng, Y., Wang, J., Yuan, M., Cai, W., Tong, Y., Sun, Y. H., Yang, L., Qu, J., Guan, M. X. (2010) Mitochondrial ND6 T14502C variant may modulate the phenotypic expression of LHON-associated G11778A mutation in four Chinese families Biochemical and Biophysical Research Communications . 399 (4): 647-653 . |
5 | 27427386 | 2016 | Jiang, P., Liang, M., Zhang, C., Zhao, X., He, Q., Cui, L., Liu, X., Sun, Y. H., Fu, Q., Ji, Y., Bai, Y., Huang, T., Guan, M. X. (2016) Biochemical evidence for a mitochondrial genetic modifier in the phenotypic manifestation of Leber's hereditary optic neuropathy-associated mitochondrial DNA mutation Human Molecular Genetics . 25 (16): 3613-3625 . |
6 | 29387390 | 2018 | Dai, Y., Wang, C., Nie, Z., Han, J., Chen, T., Zhao, X., Ai, C., Ji, Y., Gao, T., Jiang, P. (2018) Mutation analysis of Leber's hereditary optic neuropathy using a multi-gene panel Biomedical Reports . 8 (1): 51-58 . |
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 | 32045392 | 2020 | Cui, S., Yang, L., Jiang, H., Peng, J., Shang, J., Wang, J., Zhang, X. (2020) Clinical features of Chinese sporadic Leber hereditary optic neuropathy caused by rare primary mtDNA mutations Journal of Neuro-Ophthalmology . 40 (1): 30-36 . |
9 | 33858285 | 2021 | Vandeputte, J., Van Heetvelde, M., Van Cauwenbergh, C., Seneca, S., De Baere, E., Leroy, B. P., De Zaeytijd, J. (2021) Mild Leber hereditary optic neuropathy (LHON) in a Western European family due to the rare Asian m.14502T>C variant in the MT-ND6 gene Ophthalmic Genetics . April 16 (): 1-6 . |