| Index | PMID | Date | Reference |
|---|---|---|---|
| 1 | 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 . |
| 2 | 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 . |
| 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 | 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 . |
| 5 | 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 . |
| 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 | 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 . |
| 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 . |
| 9 | 35778412 | 2022 | Wang, Y., Guo, X., Hong, X., Wang, G., Pearson, C., Zuckerman, B., Clark, A. G., O'Brien, K. O., Wang, X., Gu, Z. (2022) Association of mitochondrial DNA content, heteroplasmies and inter-generational transmission with autism Nature Communications . 13 (1): 3790 . |