MITOMAP References for Mutation G-A at 13042

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1 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 .
2 15382008 2004 Achilli, A., Rengo, C., Magri, C., Battaglia, V., Olivieri, A., Scozzari, R., Cruciani, F., Zeviani, M., Briem, E., Carelli, V., Moral, P., Dugoujon, J. M., Roostalu, U., Loogvali, E. L., Kivisild, T., Bandelt, H. J., Richards, M., Villems, R., Santachiara-Benerecetti, A. S., Semino, O., Torroni, A. (2004) The molecular dissection of mtDNA haplogroup H confirms that the Franco-Cantabrian glacial refuge was a major source for the European gene pool American Journal of Human Genetics . 75 (5): 910-918 .
3 16816025 2006 Valentino, M. L., Barboni, P., Rengo, C., Achilli, A., Torroni, A., Lodi, R., Tonon, C., Barbiroli, B., Fortuna, F., Montagna, P., Baruzzi, A., Carelli, V. (2006) The 13042G --> A/ND5 mutation in mtDNA is pathogenic and can be associated also with a prevalent ocular phenotype Journal of Medical Genetics . 43 (7): e38 .
4 18332249 2008 Shanske, S., Coku, J., Lu, J., Ganesh, J., Krishna, S., Tanji, K., Bonilla, E., Naini, A. B., Hirano, M., DiMauro, S. (2008) The G13513A mutation in the ND5 gene of mitochondrial DNA as a common cause of MELAS or Leigh syndrome: evidence from 12 cases Archives of Neurology . 65 (3): 368-372 .
5 15767514 2005 Naini, A. B., Lu, J., Kaufmann, P., Bernstein, R. A., Mancuso, M., Bonilla, E., Hirano, M., DiMauro, S. (2005) Novel mitochondrial DNA ND5 mutation in a patient with clinical features of MELAS and MERRF Archives of Neurology . 62 (3): 473-476 .
6 17400793 2007 Blok, M. J., Spruijt, L., de Coo, I. F., Schoonderwoerd, K., Hendrickx, A., Smeets, H. J. (2007) Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation disease Journal of Medical Genetics . 44 (4): e74 .
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 31996177 2020 Danhelovska, T., Kolarova, H., Zeman, J., Hansikova, H., Vaneckova, M., Lambert, L., Kucerova-Vidrova, V., Berankova, K., Honzik, T., Tesarova, M. (2020) Multisystem mitochondrial diseases due to mutations in mtDNA-encoded subunits of complex I BMC Pediatr . 20 (1): 41 .