MITOMAP References for Mutation G-A at 3733

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Index PMID Date Reference
1 15505787 2004 Valentino, M. L., Barboni, P., Ghelli, A., Bucchi, L., Rengo, C., Achilli, A., Torroni, A., Lugaresi, A., Lodi, R., Barbiroli, B., Dotti, M., Federico, A., Baruzzi, A., Carelli, V. (2004) The ND1 gene of complex I is a mutational hot spot for Leber's hereditary optic neuropathy Annals of Neurology . 56 (5): 631-41 .
2 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 .
3 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 (): .
4 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 .
5 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 .
6 19098324 2009 Ramos, C. d. V. F., Bellusci, C., Savini, G., Carbonelli, M., Berezovsky, A., Tamaki, C., Cinoto, R., Sacai, P. Y., Moraes-Filho, M. N., Miura, H. M., Valentino, M. L., Iommarini, L., De Negri, A. M., Sadun, F., Cortelli, P., Montagna, P., Salomao, S. R., Sadun, A. A., Carelli, V., Barboni, P. (2009) Association of optic disc size with development and prognosis of Leber's hereditary optic neuropathy Investigative Ophthalmology and Visual Science . 50 (4): 1666-1674 .
7 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 .
8 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 .
9 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 .
10 17122117 2006 Barboni, P., Savini, G., Valentino, M. L., La Morgia, C., Bellusci, C., De Negri, A. M., Sadun, F., Carta, A., Carbonelli, M., Sadun, A. A., Carelli, V. (2006) Leber's hereditary optic neuropathy with childhood onset Investigative Ophthalmology and Visual Science . 47 (12): 5303-5309 .