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 | 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 . |
5 | 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 . |