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 | 16523671 | 2006 | Volod'ko, N. V., L'Vova, M. A., Starikovskaya, E. B., Derbeneva, O. A., Bychkov, I. Y., Mikhailovskaya, I. E., Pogozheva, I. V., Fedotov, F. F., Soyan, G. V., Procaccio, V., Wallace, D. C., Sukernik, R. I. (2006) [Spectrum of pathogenic mtDNA mutations in Leber's hereditary optic neuropathy families from Siberia] Genetika (Russian Journal of Genetics) . 42 (1): 76-83 . |
4 | 18676632 | 2008 | Bosley, T. M., Brodsky, M., Glasier, C. M., Abu-Amero, K. K. (2008) Sporadic bilateral optic neuropathy in children: the role of mitochondrial abnormalities Investigative Ophthalmology and Visual Science . 49 (12): 5250-5256 . |
5 | 21145289 | 2011 | Niehusmann, P., Surges, R., von Wrede, R. D., Elger, C. E., Wellmer, J., Reimann, J., Urbach, H., Vielhaber, S., Bien, C. G., Kunz, W. S. (2011) Mitochondrial dysfunction due to Leber's hereditary optic neuropathy as a cause of visual loss during assessment for epilepsy surgery Epilepsy and Behavior . 20 (1): 38-43 . |
6 | 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 . |
7 | NA | 2016 | van Oven, M., Kayser, M. (2016) . http://www.phylotree.org . Variants appear in tree, sequence(s) available. Phylotree (Build 17): 18 Feb . |
8 | 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 . |
9 | 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/ . |