Index | PMID | Date | Reference |
---|---|---|---|
1 | 7520241 | 1994 | Goto, Y., Tsugane, K., Tanabe, Y., Nonaka, I., Horai, S. (1994) A new point mutation at nucelotide pair 3291 of the tRNALeu(UUR) gene in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) Biochemical and Biophysical Research Communications . 202 (3): 1624-1630 . |
2 | 7603510 | 1995 | Goto, Y. (1995) Clinical features of MELAS and mitochondrial DNA mutations Muscle and Nerve . 3 (12): S107-S112 . |
3 | 10899447 | 2000 | Uziel, G., Carrara, F., Granata, T., Lamantea, E., Mora, M., Zeviani, M. (2000) Neuromuscular syndrome associated with the 3291T-->C mutation of mitochondrial DNA: a second case Neuromuscular Disorders . 10 (6): 415-418 . |
4 | 15477393 | 2004 | Levinger, L., Morl, M., Florentz, C. (2004) Mitochondrial tRNA 3' end metabolism and human disease Nucleic Acids Research . 32 (18): 5430-5441 . |
5 | 15870203 | 2005 | Kirino, Y., Goto, Y. I., Campos, Y., Arenas, J., Suzuki, T. (2005) Specific correlation between the wobble modification deficiency in mutant tRNAs and the clinical features of a human mitochondrial disease Proceedings of the National Academy of Sciences of the United States of America . 102 (20): 7127-7132 . |
6 | 18165269 | 2008 | Lim, K. S., Naviaux, R. K., Wong, S., Haas, R. H. (2008) Pitfalls in the denaturing high-performance liquid chromatography analysis of mitochondrial DNA mutation Journal of Molecular Diagnostics . 10 (1): 102-108 . |
7 | 18977334 | 2009 | Valente, L., Piga, D., Lamantea, E., Carrara, F., Uziel, G., Cudia, P., Zani, A., Farina, L., Morandi, L., Mora, M., Spinazzola, A., Zeviani, M., Tiranti, V. (2009) Identification of novel mutations in five patients with mitochondrial encephalomyopathy Biochimica et Biophysica Acta . 1787 (5): 491-501 . |
8 | 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 . |
9 | 20943236 | 2011 | Salsano, E., Giovagnoli, A. R., Morandi, L., Maccagnano, C., Lamantea, E., Marchesi, C., Zeviani, M., Pareyson, D. (2011) Mitochondrial dementia: a sporadic case of progressive cognitive and behavioral decline with hearing loss due to the rare m.3291T>C MELAS mutation Journal of the Neurological Sciences . 300 (1-2): 165-168 . |
10 | 21863273 | 2011 | Sunami, Y., Sugaya, K., Chihara, N., Goto, Y., Matsubara, S. (2011) Mitochondrial dementia: a sporadic case of progressive cognitive and behavioral decline with hearing loss due to the rare m.3291T>C MELAS mutation Neurological Sciences . 32 (5): 861-864 . |
11 | 22471645 | 2012 | Ding, Y., Leng, J. (2012) Is mitochondrial tRNA Leu(UUR) 3291T>C mutation pathogenic? Mitochondrial DNA . 23 (4): 323-326 . |
12 | 23273904 | 2013 | Yarham, J. W., Blakely, E. L., Alston, C. L., Roberts, M. E., Ealing, J., Pal, P., Turnbull, D. M., McFarland, R., Taylor, R. W. (2013) The m.3291T>C mt-tRNA(Leu(UUR)) mutation is definitely pathogenic and causes multisystem mitochondrial disease Journal of the Neurological Sciences . 325 (1-2): 165-169 . |
13 | 24338029 | 2014 | Liu, K., Zhao, H., Ji, K., Yan, C. (2014) MERRF/MELAS overlap syndrome due to the m.3291T>C mutation Metabolic Brain Disease . 29 (1): 139-144 . |
14 | 29161289 | 2017 | Queen, R. A., Steyn, J. S., Lord, P., Elson, J. L. (2017) Mitochondrial DNA sequence context in the penetrance of mitochondrial t-RNA mutations: A study across multiple lineages with diagnostic implications PLoS One 12 (11): e0187862 . |
15 | NA | 2020 | Bolze, A., Mendez, F., White, S., Tanudjaja, F., Isaksson, M., Jiang, R., Dei Rossi, A., Cirulli, E. T., Rashkin, M., Metcalf, W. J., Grzymski, J. J., Lee, W., Lu, J. T. and Washington, N. L. (2020) A catalog of homoplasmic and heteroplasmic mitochondrial DNA variants in humans bioRxiv . ePub (https://www.biorxiv.org/content/10.1101/798264v3): 798264 . |
16 | 31965079 | 2020 | Wong, L. C., Chen, T., Wang, J., Tang, S., Schmitt, E. S., Landsverk, M., Li, F., Wang, Y., Zhang, S., Zhang, V. W., Craigen, W. J. (2020) Interpretation of mitochondrial tRNA variants Genetics in Medicine 22 (5): 917-926; Suppl Table 1 . |