Index | PMID | Date | Reference |
---|---|---|---|
1 | 8240356 | 1993 | Johns, D. R., Neufeld, M. J. (1993) Cytochrome c oxidase mutations in Leber hereditary optic neuropathy Biochemical and Biophysical Research Communications . 196 (2): 810-815 . |
2 | 7599218 | 1995 | Savontaus, M.L. (1995) mtDNA mutations in Leber's hereditary optic neuropathy Biochimica et Biophysica Acta . 1271 (1): 261-263 . |
3 | 7710535 | 1995 | Newman, N.J., Torroni, A., Brown, M.D., Lott, M.T., Wallace, D.C., Philen, R., Roman, G.C. (1995) Cuban optic neuropathy [letter; comment] Neurology . 45 (2): 397 . |
4 | 10520236 | 1999 | Matsumoto, M., Hayasaka, S., Kadoi, C., Hotta, Y., Fujiki, K., Fujimaki, T., Takeda, M., Ishida, N., Endo, S., Kanai, A. (1999) Secondary mutations of mitochondrial DNA in Japanese patients with Leber's hereditary optic neuropathy Ophthalmic Genetics . 20 (3): 153-160 . |
5 | 11339587 | 2001 | Dogulu, C. F., Kansu, T., Seyrantepe, V., Ozguc, M., Topaloglu, H., Johns, D. R. (2001) Mitochondrial DNA analysis in the Turkish Leber's hereditary optic neuropathy population Eye (London) . 15 (Pt 2): 183-188 . |
6 | 11579587 | 2001 | Yamada, K., Mashima, Y., Hiida, Y., Oguchi, Y. (2001) [DNA diagnosis of Leber's hereditary optic neuropathy performed at Keio University Hospital] Nippon Ganka Gakkai Zasshi . 105 (9): 608-613 . |
7 | 16132471 | 2005 | de Magalhaes, J. P. (2005) Human disease-associated mitochondrial mutations fixed in nonhuman primates Journal of Molecular Evolution . 61 (4): 491-497 . |
8 | 21457906 | 2011 | Pereira, L., Soares, P., Radivojac, P., Li, B., Samuels, D. C. (2011) Comparing phylogeny and the predicted pathogenicity of protein variations reveals equal purifying selection across the global human mtDNA diversity American Journal of Human Genetics . 88 (4): 433-439 . |
9 | NA | 2014 | van Oven, M., Kayser, M. (2014) . http://www.phylotree.org . Variants appear in tree, sequence(s) available. Phylotree (Build 16): 19 Feb . |
10 | 23735083 | 2014 | Tansel, T., Pacal, F., Ustek, D. (2014) A novel ATP8 gene mutation in an infant with tetralogy of Fallot Cardiology in the Young . 24 (3): 531-533 . |
11 | 27119776 | 2016 | Souren, N. Y., Gerdes, L. A., Kumpfel, T., Lutsik, P., Klopstock, T., Hohlfeld, R., Walter, J. (2016) Mitochondrial DNA variation and heteroplasmy in monozygotic twins clinically discordant for multiple sclerosis Human Mutation . 37 (8): 765-775 . |
12 | 30831606 | 2019 | Lazdinyte, S., Schorderet, D. F., Schaller, A., Valmaggia, C., Todorova, M. G. (2019) Analysis of inherited optic neuropathies Klinische Monatsblatter fur Augenheilkunde . 236 (4): 451-461 . |
13 | 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/ . |