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|---|---|---|---|
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| 2 | 9372914 | 1997 | Hao, H., Moraes, C. T. (1997) A disease-associated G5703A mutation in human mitochondrial DNA causes a conformational change and a marked decrease in steady-state levels of mitochondrial tRNA(Asn) Molecular and Cellular Biology . 17 (12): 6831-6837 . |
| 3 | 10332045 | 1999 | Hao, H., Morrison, L.E., Moraes, C.T. (1999) Suppression of a mitochondrial tRNA gene mutation phenotype associated with changes in the nuclear background Human Molecular Genetics . 8 (6): 1117-1124 . |
| 4 | 14518831 | 2003 | Vives-Bauza, C., Del Toro, M., Solano, A., Montoya, J., Andreu, A. L., Roig, M. (2003) Genotype-phenotype correlation in the 5703G>A mutation in the tRNA(ASN) gene of mitochondrial DNA Journal of Inherited Metabolic Disease . 26 (5): 507-508 . |
| 5 | 19718780 | 2009 | Elson, J. L., Swalwell, H., Blakely, E. L., McFarland, R., Taylor, R. W., Turnbull, D. M. (2009) Pathogenic mitochondrial tRNA mutations--which mutations are inherited and why? Human Mutation . 30 (11): E984-992 . |
| 6 | 20064630 | 2010 | Nishigaki, Y., Ueno, H., Coku, J., Koga, Y., Fujii, T., Sahashi, K., Nakano, K., Yoneda, M., Nonaka, M., Tang, L., Liou, C. W., Paquis-Flucklinger, V., Harigaya, Y., Ibi, T., Goto, Y., Hosoya, H., DiMauro, S., Hirano, M., Tanaka, M. (2010) Extensive screening system using suspension array technology to detect mitochondrial DNA point mutations [METHODS] Mitochondrion . 10 (3): 300-308 . |
| 7 | 26328603 | 2015 | Tranah, G. J., Yaffe, K., Katzman, S. M., Lam, E. T., Pawlikowska, L., Kwok, P. Y., Schork, N. J., Manini, T. M., Kritchevsky, S., Thomas, F., Newman, A. B., Harris, T. B., Coleman, A. L., Gorin, M. B., Helzner, E. P., Rowbotham, M. C., Browner, W. S., Cummings, S. R., Health, A., Body Composition, S. (2015) Mitochondrial DNA heteroplasmy associations with neurosensory and mobility function in elderly adults The Journals of Gerontology. Series A, Biological Sciences and Medical Sciences . 70 (11): 1418-1424 . |
| 8 | 30897601 | 2019 | Fu, J., Ma, M. M., Pang, M., Yang, L., Li, G., Song, J., Zhang, J. W. (2019) Broadening the phenotype of m.5703G>A mutation in mitochondrial tRNAAsn gene from mitochondrial myopathy to myoclonic epilepsy with ragged red fibers syndrome Chinese Medical Journal (English) . 132 (7): 865-867 . |
| 9 | 31268906 | 2019 | Finsterer, J. (2019) Is the MT-TN variant m.5703G>A truly causative for myoclonic epilepsy with ragged red fibers syndrome plus? Chinese Medical Journal (English) . 132 (14): 1752 . |
| 10 | 32419253 | 2020 | Zereg, E., Chaussenot, A., Morel, G., Bannwarth, S., Sacconi, S., Soriani, M. H., Attarian, S., Cano, A., Pouget, J., Bellance, R., Tranchant, C., Lannes, B., de Paula, A. M., Saadi Ait-El-Mkadem, S., Chafino, B., Berthet, M., Fragaki, K., Paquis-Flucklinger, V., Rouzier, C. (2020) Single-fiber studies for assigning pathogenicity of eight mitochondrial DNA variants associated with mitochondrial diseases Human Mutation . 41 (8): 1394-1406 . |
| 11 | 32970680 | 2020 | Toncheva, D., Serbezov, D., Karachanak-Yankova, S., Nesheva, D. (2020) Ancient mitochondrial DNA pathogenic variants putatively associated with mitochondrial disease PLoS One 15 (9): e0233666 . |
| 12 | 38465286 | 2024 | Nogueira, C., Pereira, C., Silva, L., Laranjeira, M., Lopes, A., Neiva, R., Rodrigues, E., Campos, T., Martins, E., Bandeira, A., Coelho, M., Magalhaes, M., Damasio, J., Gaspar, A., Janeiro, P., Gomes, A. L., Ferreira, A. C., Jacinto, S., Vieira, J. P., Diogo, L., Santos, H., Mendonca, C., Vilarinho, L. (2024) The genetic landscape of mitochondrial diseases in the next-generation sequencing era: a Portuguese cohort study Frontiers in Cell and Developmental Biology . 12 (): 1331351 . |