MITOMAP References for Mutation C-A at 14482

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Index PMID Date Reference
1 11931086 2002 Luberichs, J., Leo-Kottler, B., Besch, D., Fauser, S. (2002) A mutational hot spot in the mitochondrial ND6 gene in patients with Leber's hereditary optic neuropathy Graefes Archive for Clincial and Experimental Ophthalmology . 240 (2): 96-100 .
2 12112086 2002 Valentino, M. L., Avoni, P., Barboni, P., Pallotti, F., Rengo, C., Torroni, A., Bellan, M., Baruzzi, A., Carelli, V. (2002) Mitochondrial DNA nucleotide changes C14482G and C14482A in the ND6 gene are pathogenic for Leber's hereditary optic neuropathy Annals of Neurology . 51 (6): 774-778 .
3 12150954 2002 Fauser, S., Luberichs, J., Besch, D., Leo-Kottler, B. (2002) Sequence analysis of the complete mitochondrial genome in patients with Leber's hereditary optic neuropathy lacking the three most common pathogenic DNA mutations Biochemical and Biophysical Research Communications . 295 (2): 342-347 .
4 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 .
5 16532388 2006 Carelli, V., Achilli, A., Valentino, M. L., Rengo, C., Semino, O., Pala, M., Olivieri, A., Mattiazzi, M., Pallotti, F., Carrara, F., Zeviani, M., Leuzzi, V., Carducci, C., Valle, G., Simionati, B., Mendieta, L., Salomao, S., Belfort, R., Sadun, A. A., Torroni, A. (2006) Haplogroup effects and recombination of mitochondrial DNA: novel clues from the analysis of Leber hereditary optic neuropathy pedigrees American Journal of Human Genetics . 78 (4): 564-574 .
6 18402672 2008 Alvarez-Iglesias, V., Barros, F., Carracedo, A., Salas, A. (2008) Minisequencing mitochondrial DNA pathogenic mutations [METHODS] BMC Medical Genetics . 9 (-): 26 .
7 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 .
8 19319978 2009 Ferre, M., Bonneau, D., Milea, D., Chevrollier, A., Verny, C., Dollfus, H., Ayuso, C., Defoort, S., Vignal, C., Zanlonghi, X., Charlin, J. F., Kaplan, J., Odent, S., Hamel, C. P., Procaccio, V., Reynier, P., Amati-Bonneau, P. (2009) Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations Human Mutation . 30 (7): E692-705 .
9 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 .
10 21887510 2012 Rance, G., Kearns, L. S., Tan, J., Gravina, A., Rosenfeld, L., Henley, L., Carew, P., Graydon, K., O'Hare, F., Mackey, D. A. (2012) Auditory function in individuals within Leber's hereditary optic neuropathy pedigrees Journal of Neurology . 259 (3): 542-550 .
11 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 .
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 .