Index | PMID | Date | Reference |
---|---|---|---|
1 | 11479733 | 2001 | Brown, M. D., Zhadanov, S., Allen, J. C., Hosseini, S., Newman, N. J., Atamonov, V. V., Mikhailovskaya, I. E., Sukernik, R. I., Wallace, D. C. (2001) Novel mtDNA mutations and oxidative phosphorylation dysfunction in Russion LHON families Human Genetics . 109 (1): 33-39 . |
2 | 15972314 | 2006 | Mitchell, A. L., Elson, J. L., Howell, N., Taylor, R. W., Turnbull, D. M. (2006) Sequence variation in mitochondrial complex I genes: mutation or polymorphism? Journal of Medical Genetics . 43 (2): 175-179 . |
3 | NA | 2009 | Shi, X. L., Hu, Z. M., Du, L. P., Jin, X. M., Xia, K. (2009) The coexistence of a novel ND5 A12340G mutation with ND1 G3635A mutation in a Chinese family with Leber hereditary optic neuropathy Academic Conference of Chinese Medical Association, Ophthalmology Department Branch . Online publication (http://www.medcon.org.cn/2009/cmao/cn/news.asp?abid=3238.html): . . |
4 | 19497304 | 2009 | Yang, J., Zhu, Y., Tong, Y., Chen, L., Liu, L., Zhang, Z., Wang, X., Huang, D., Qiu, W., Zhuang, S., Ma, X. (2009) Confirmation of the mitochondrial ND1 gene mutation G3635A as a primary LHON mutation Biochemical and Biophysical Research Communications . 386 (1): 50-54 . |
5 | 19527690 | 2009 | Zhang, A. M., Zou, Y., Guo, X., Jia, X., Zhang, Q., Yao, Y. G. (2009) Mitochondrial DNA mutation m.3635G>A may be associated with Leber hereditary optic neuropathy in Chinese Biochemical and Biophysical Research Communications . 386 (2): 392-395 . |
6 | 21074518 | 2010 | Jia, X., Li, S., Wang, P., Guo, X., Zhang, Q. (2010) mtDNA m.3635G>A may be classified as a common primary mutation for Leber hereditary optic neuropathy in the Chinese population Biochemical and Biophysical Research Communications . 403 (2): 237-241 . |
7 | 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 . |
8 | 25194554 | 2014 | Zhang, J., Jiang, P., Jin, X., Liu, X., Zhang, M., Xie, S., Gao, M., Zhang, S., Sun, Y. H., Zhu, J., Ji, Y., Wei, Q. P., Tong, Y., Guan, M. X. (2014) Leber's hereditary optic neuropathy caused by the homoplasmic ND1 m.3635G>A mutation in nine Han Chinese families Mitochondrion . 18 (): 18-26 |
9 | 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 . |
10 | 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 . |
11 | 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 . |
12 | 31817256 | 2019 | Starikovskaya, E., Shalaurova, S., Dryomov, S., Nazhmidenova, A., Volodko, N., Bychkov, I., Mazunin, I., Sukernik, R. (2019) Mitochondrial DNA Variation of Leber's hereditary optic neuropathy in Western Siberia Cells . 8 (12): e1574 . |
13 | NA | 2020 | Bolze, A., Mendez, F., White, S., Tanudjaja, F., Isaksson, M., Jiang, R., Dei Rossi, A., Cirulli, E. T., Rashkin, M., Metcalf, W. J., Grzymski, J. J., Lee, W., Lu, J. T. and Washington, N. L. (2020) A catalog of homoplasmic and heteroplasmic mitochondrial DNA variants in humans bioRxiv . ePub (https://www.biorxiv.org/content/10.1101/798264v3): 798264 . |
14 | 32652755 | 2020 | Wong, L. C., Chen, T., Schmitt, E. S., Wang, J., Tang, S., Landsverk, M., Li, F., Zhang, S., Wang, Y., Zhang, V. W., Craigen, W. J. (2020) Clinical and laboratory interpretation of mitochondrial mRNA variants Human Mutation . 41 (10): . |
15 | 20301353 | 2021 | Yu-Wai-Man, P., Chinnery, P. F. (2021) Leber hereditary optic neuropathy [updated 2021 Mar 11] GeneReviews® M. P. Adam, H. H. Ardinger, R. A. Pagon, S. E. Wallace, L. J. H. Bean, G. Mirza, A. Amemiya (): https://www.ncbi.nlm.nih.gov/books/NBK1174/ . |