| Index | PMID | Date | Reference |
|---|---|---|---|
| 1 | 7901141 | 1993 | Huoponen, K., Lamminen, T., Juvonen, V., Aula, P., Nikoskelainen, E., Savontaus, J.L. (1993) The spectrum of mitochondrial DNA mutations in families with Leber hereditary optic neuroretinopathy Human Genetics . 92 (4): 379-384 . |
| 2 | 8600429 | 1996 | Nikoskelainen, E. K., Huoponen, K., Juvonen, V., Lamminen, T., Nummelin, K., Savontaus, M. L. (1996) Ophthalmologic findings in Leber hereditary optic neuropathy, with special reference to mtDNA mutations Ophthalmology . 103 (3): 504-514 . |
| 3 | 19022198 | 2008 | Cai, W., Fu, Q., Zhou, X., Qu, J., Tong, Y., Guan, M. X. (2008) Mitochondrial variants may influence the phenotypic manifestation of Leber's hereditary optic neuropathy-associated ND4 G11778A mutation Journal of Genetics and Genomics . 35 (11): 649-655 . |
| 4 | 19026397 | 2008 | Ji, Y., Zhang, A. M., Jia, X., Zhang, Y. P., Xiao, X., Li, S., Guo, X., Bandelt, H. J., Zhang, Q., Yao, Y. G. (2008) Mitochondrial DNA haplogroups M7b1'2 and M8a affect clinical expression of leber hereditary optic neuropathy in Chinese families with the m.11778G-->a mutation American Journal of Human Genetics . 83 (6): 760-768 . |
| 5 | 23304069 | 2012 | Bi, R., Zhang, A. M., Jia, X., Zhang, Q., Yao, Y. G. (2012) Complete mitochondrial DNA genome sequence variation of Chinese families with mutation m.3635G>A and Leber hereditary optic neuropathy Molecular Vision . 18 (): 3087-3094 . |
| 6 | NA | 2014 | van Oven, M., Kayser, M. (2014) . http://www.phylotree.org . Variants appear in tree, sequence(s) available. Phylotree (Build 16): 19 Feb . |
| 7 | 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 . |
| 8 | 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 . |
| 9 | 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 . |