| Index | PMID | Date | Reference |
|---|---|---|---|
| 1 | 12112111 | 2002 | Kim, J. Y., Hwang, J. M., Park, S. S. (2002) Mitochondrial DNA C4171A/ND1 is a novel primary causative mutation of Leber's hereditary optic neuropathy with a good prognosis Annals of Neurology . 51 (5): 630-634 . |
| 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 | 2007 | Cui, S. L., Yang, L., Wang, W., Shang, J., Zhang, X. J. (2007) [Rare primary mt-DNA mutations in Leber hereditary optic neuropathy] Ophthalmology in China . 16 (6): 382-385 . |
| 4 | 19001017 | 2009 | Yu-Wai-Man, P., Griffiths, P. G., Hudson, G., Chinnery, P. F. (2009) Inherited mitochondrial optic neuropathies [Review] Journal of Medical Genetics . 46 (3): 145-158 . |
| 5 | 19555656 | 2009 | Yang, J., Zhu, Y., Chen, L., Zhang, H., Tong, Y., Huang, D., Zhang, Z., Chen, S., Han, X., Ma, X. (2009) Novel A14841G mutation is associated with high penetrance of LHON/C4171A family Biochemical and Biophysical Research Communications . 386 (4): 693-696 . |
| 6 | 19616643 | 2009 | Maliniemi, P., Kervinen, M., Hassinen, I. E. (2009) Modeling of human pathogenic mutations in Escherichia coli complex I reveals a sensitive region in the fourth inside loop of NuoH Mitochondrion . 9 (6): 394-401 . |
| 7 | 20491810 | 2010 | Seo, J. H., Hwang, J. M., Park, S. S. (2010) Antituberculosis medication as a possible epigenetic factor of Leber's hereditary optic neuropathy Clinical and Experimental Ophthalmology . 38 (4): 363-366 . |
| 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 | 22879922 | 2012 | Achilli, A., Iommarini, L., Olivieri, A., Pala, M., Kashani, B. H., Reynier, P., La Morgia, C., Valentino, M. L., Liguori, R., Pizza, F., Barboni, P., Sadun, F., De Negri, A., Zeviani, M., Dollfus, H., Moulignier, A., Ducos, G., Orssaud, C., Bonneau, D., Procaccio, V., Leo-Kottler, B., Fauser, S., Wissinger, B., Amati-Bonneau, P., Torroni, A., Carelli, V. (2012) Rare primary mitochondrial DNA mutations and synergistic variants in Leber's hereditary optic neuropathy PLOS One . 7 (8): e42242 . |
| 10 | 24884847 | 2014 | La Morgia, C., Caporali, L., Gandini, F., Olivieri, A., Toni, F., Nassetti, S., Brunetto, D., Stipa, C., Scaduto, C., Parmeggiani, A., Tonon, C., Lodi, R., Torroni, A., Carelli, V. (2014) Association of the mtDNA m.4171C>A/MT-ND1 mutation with both optic neuropathy and bilateral brainstem lesions BMC Neurology . 14 (): 116 . |
| 11 | 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 . |
| 12 | 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 . |
| 13 | 32045392 | 2020 | Cui, S., Yang, L., Jiang, H., Peng, J., Shang, J., Wang, J., Zhang, X. (2020) Clinical features of Chinese sporadic Leber hereditary optic neuropathy caused by rare primary mtDNA mutations Journal of Neuro-Ophthalmology . 40 (1): 30-36 . |
| 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/ . |
| 16 | 34670133 | 2021 | Lopez Sanchez, M. I. G., Kearns, L. S., Staffieri, S. E., Clarke, L., McGuinness, M. B., Meteoukki, W., Samuel, S., Ruddle, J. B., Chen, C., Fraser, C. L., Harrison, J., Hewitt, A. W., Howell, N., Mackey, D. A. (2021) Establishing risk of vision loss in Leber hereditary optic neuropathy American Journal of Human Genetics . 108 (11): 2159-2170 . |
| 17 | 35104579 | 2022 | Gowri, P., Sathish, P., Mahesh Kumar, S., Sundaresan, P. (2022) Mutation profile of neurodegenerative mitochondriopathy - LHON in Southern India Gene . 819 (): 146202 . |