| Index | PMID | Date | Reference |
|---|---|---|---|
| 1 | 1932147 | 1991 | Goto, Y., Nonaka, I., Horai, S. (1991) A new mtDNA mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) Biochimica et Biophysica Acta . 1097 (3): 238-240 . |
| 2 | 7684581 | 1993 | Tokunaga, M., Mita, S., Sakuta, R., Nonaka, I., Araki, S. (1993) Increased mitochondrial DNA in blood vessels and ragged-red fibers in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) Annals of Neurology . 33 (3): 275-280 . |
| 3 | 8280119 | 1993 | Hayashi, J., Ohta, S., Takai, D., Miyabayashi, S., Sakuta, R., Goto, Y., Nonaka, I. (1993) Accumulation of mtDNA with a mutation at position 3271 in tRNALeu(UUR) gene introduced from a MELAS patient to HeLa cells lacking mtDNA results in progressive inhibition of mitochondrial respiratory function Biochemical and Biophysical Research Communications . 197 (3): 1049-1055 . |
| 4 | 8482977 | 1993 | Sakuta, R., Goto, Y., Horai, S., Nonaka, I. (1993) Mitochondrial DNA mutations at nucleotide positions 3243 and 3271 in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes: a comparative study Journal of the Neurological Sciences . 115 (2): 158-160 . |
| 5 | 7599217 | 1995 | Gerbitz, K. D., van den Ouweland, J. M., Maassen, J. A., Jaksch, M. (1995) Mitochondrial diabetes mellitus: a review Biochimica et Biophysica Acta . 1271 (1): 253-260 . |
| 6 | 7603510 | 1995 | Goto, Y. (1995) Clinical features of MELAS and mitochondrial DNA mutations Muscle and Nerve . 3 (12): S107-S112 . |
| 7 | 7603512 | 1995 | Koga, Y., Davidson, M., Schon, E. A., King, M. P. (1995) Analysis of cybrids harboring MELAS mutations in the mitochondrial tRNALeu(UUR) gene Muscle and Nerve . 3 (23): S119-123 . |
| 8 | 9455930 | 1997 | Tsukuda, K., Suzuki, Y., Kameoka, K., Osawa, N., Goto, Y., Katagiri, H., Asano, T., Yazaki, Y., Oka, Y. (1997) Screening of patients with maternally transmitted diabetes for mitochondrial gene mutations in the tRNA[Leu(UUR)] region Diabetic Medicine . 14 (12): 1032-1037 . |
| 9 | 9744809 | 1998 | Rossmanith, W. and Karwan, R. M. (1998) Impairment of tRNA processing by point mutations in mitochondrial tRNA(Leu)(UUR) associated with mitochondrial diseases FEBS Letters . 433 (3): 269-274 . |
| 10 | 9766710 | 1998 | Takeda, A., Chiba, S., Takaaki, I., Tanamura, A., Yamaguchi, Y., Takeda, N. (1998) Cell cycle of myocytes of cardiac and skeletal muscle in mitochondrial myopathy Japanese Circulation Journal . 62 (9): 695-699 . |
| 11 | 11404119 | 2001 | Nagashima, T., Kato, H., Maguchi, S., Chuma, T., Mano, Y., Goto, Y., Nonaka, I., Nagashima, K. (2001) A mitochondrial encephalo-myo-neuropathy with a nucleotide position 3271 (T-C) point mutation in the mitochondrial DNA Neuromuscular Disorders . 11 (5): 470-476 . |
| 12 | 16120315 | 2002 | Yasukawa, T., Suzuki, T., Ohta, S., Watanabe, K. (2002) Wobble modification defect suppresses translational activity of tRNAs with MERRF and MELAS mutations Mitochondrion . 2 (40545): 129-141 . |
| 13 | 12527767 | 2003 | Wittenhagen, L. M., Roy, M. D., Kelley, S. O. (2003) The pathogenic U3271C human mitochondrial tRNA(Leu(UUR)) mutation disrupts a fragile anticodon stem Nucleic Acids Research . 31 (2): 596-601 . |
| 14 | 12609508 | 2003 | Koga, A., Koga, Y., Akita, Y., Fukiyama, R., Ueki, I., Yatsuga, S., Matsuishi, T. (2003) Increased mitochondrial processing intermediates associated with three tRNA(Leu(UUR)) gene mutations Neuromuscular Disorders . 13 (3): 259-262 . |
| 15 | 12729737 | 2003 | Sohm, B., Frugier, M., Brule, H., Olszak, K., Przykorska, A., Florentz, C. (2003) Towards understanding human mitochondrial leucine aminoacylation identity Journal of Molecular Biology . 328 (5): 995-1010 . |
| 16 | 15477393 | 2004 | Levinger, L., Morl, M., Florentz, C. (2004) Mitochondrial tRNA 3' end metabolism and human disease Nucleic Acids Research . 32 (18): 5430-5441 . |
| 17 | 15794182 | 2005 | Tay, S. K., Shanske, S., Crowe, C., Shanske, A., Schafer, I., Pancrudo, J., Lu, J., Bonilla, E., DiMauro, S. (2005) Clinical and genetic features in two families with MELAS and the T3271C mutation in mitochondrial DNA Journal of Child Neurology . 20 (2): 142-146 . |
| 18 | 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 . |
| 19 | 16006433 | 2005 | Stenqvist, L., Paetau, A., Valanne, L., Suomalainen, A., Pihko, H. (2005) A juvenile case of MELAS with T3271C mitochondrial DNA mutation Pediatric Research . 58 (2): 258-262 . |
| 20 | 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 . |
| 21 | 19370763 | 2009 | Dobrowolski, S. F., Gray, J., Miller, T., Sears, M. (2009) Identifying sequence variants in the human mitochondrial genome using high-resolution melt (HRM) profiling Human Mutation (Online) . 30 (6): 891-898 . |
| 22 | 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 . |
| 23 | 20972245 | 2011 | Lebre, A. S., Rio, M., Faivre d'Arcier, L., Vernerey, D., Landrieu, P., Slama, A., Jardel, C., Laforet, P., Rodriguez, D., Dorison, N., Galanaud, D., Chabrol, B., Paquis-Flucklinger, V., Grevent, D., Edvardson, S., Steffann, J., Funalot, B., Villeneuve, N., Valayannopoulos, V., de Lonlay, P., Desguerre, I., Brunelle, F., Bonnefont, J. P., Rotig, A., Munnich, A., Boddaert, N. (2011) A common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiency Journal of Medical Genetics . 48 (1): 16-23 . |
| 24 | 21364701 | 2011 | Swalwell, H., Kirby, D. M., Blakely, E. L., Mitchell, A., Salemi, R., Sugiana, C., Compton, A. G., Tucker, E. J., Ke, B. X., Lamont, P. J., Turnbull, D. M., McFarland, R., Taylor, R. W., Thorburn, D. R. (2011) Respiratory chain complex I deficiency caused by mitochondrial DNA mutations European Journal of Human Genetics . 19 (7): 769-775 . |
| 25 | 21944974 | 2012 | Koga, Y., Povalko, N., Nishioka, J., Katayama, K., Yatsuga, S., Matsuishi, T. (2012) Molecular pathology of MELAS and L-arginine effects Biochimica et Biophysica Acta . 1820 (5): 608-614 . |
| 26 | 23257519 | 2012 | Rikimaru, M., Ohsawa, Y., Wolf, A. M., Nishimaki, K., Ichimiya, H., Kamimura, N., Nishimatsu, S., Ohta, S., Sunada, Y. (2012) Taurine ameliorates impaired the mitochondrial function and prevents stroke-like episodes in patients with MELAS Internal Medicine . 51 (24): 3351-3357 . |
| 27 | 24153443 | 2013 | Aure, K., Dubourg, O., Jardel, C., Clarysse, L., Sternberg, D., Fournier, E., Laforet, P., Streichenberger, N., Petiot, P., Gervais-Bernard, H., Vial, C., Bedat-Millet, A. L., Drouin-Garraud, V., Bouillaud, F., Vandier, C., Fontaine, B., Lombes, A. (2013) Episodic weakness due to mitochondrial DNA MT-ATP6/8 mutations Neurology . 81 (21): 1810-1818 . |
| 28 | 25192510 | 2014 | Haas, R. H., Zolkipli, Z. (2014) Mitochondrial disorders affecting the nervous system Seminars in Neurology . 32 (3): 321-340 . |
| 29 | 25680467 | 2015 | Brisca, G., Fiorillo, C., Nesti, C., Trucco, F., Derchi, M., Andaloro, A., Assereto, S., Morcaldi, G., Pedemonte, M., Minetti, C., Santorelli, F. M., Bruno, C. (2015) Early onset cardiomyopathy associated with the mitochondrial tRNALeu((UUR)) 3271T>C MELAS mutation Biochemical and Biophysical Research Communications . 458 (3): 601-604 . |
| 30 | NA | 2016 | Granadillo De Luque, J. L., Luna, M., Hernandez-Reina, L., Arteaga-Diaz, C., Arteaga-Diaz, J. M. (2016) Case studies of two families with MIDD and MELAS: heteroplasmy level in m.3243A>G mutation and the first report on m.3271T>C mutation in Colombia Case Reports . 2 (1): https://revistas.unal.edu.co/index.php/care/article/view/50754 . |
| 31 | 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 . |
| 32 | 29666206 | 2019 | Ohsawa, Y., Hagiwara, H., Nishimatsu, S. I., Hirakawa, A., Kamimura, N., Ohtsubo, H., Fukai, Y., Murakami, T., Koga, Y., Goto, Y. I., Ohta, S., Sunada, Y., Group, K. N. S. (2019) Taurine supplementation for prevention of stroke-like episodes in MELAS: a multicentre, open-label, 52-week phase III trial Journal of Neurology, Neurosurgery and Psychiatry . 90 (5): 529-536 . |
| 33 | 31665838 | 2019 | Han, X. D., Fang, F., Li, H., Liu, Z. M., Shi, Y. Q., Wang, J. L., Ren, X. T., Ding, C. H., Chen, C. H., Li, J. W., Zhang, W. H., Deng, J. (2019) [Clinical and genetic characteristics of 62 children with mitochondrial epilepsy] Chinese Journal of Pediatrics [Zhonghua Er Ke Za Zhi] . 57 (11): 844-851 . |
| 34 | 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 . |
| 35 | 32167396 | 2020 | Bulduk, B. K., Kilic, H. B., Bekircan-Kurt, C. E., Haliloglu, G., Erdem Ozdamar, S., Topaloglu, H., Kocaefe, Y. C. (2020) A novel amplification-refractory mutation system-PCR strategy to screen MT-TL1 pathogenic variants in patient repositories Genetic Testing and Molecular Biomarkers . 24 (3): 165-170 . |
| 36 | 33763872 | 2021 | Pozzi, A., Dowling, D. K. (2021) Small mitochondrial RNAs as mediators of nuclear gene regulation, and potential implications for human health Bioessays . 43 (6): e2000265 . |
| 37 | 36769001 | 2023 | Zelissen, R., Ahmadian, S., Montilla-Rojo, J., Timmer, E., Ummelen, M., Hopman, A., Smeets, H., van Tienen, F. (2023) Fusion of wild-type mesoangioblasts with myotubes of mtDNA mutation carriers leads to a proportional reduction in mtDNA mutation load International Journal of Molecular Sciences . 24 (3): 2679 . |
| 38 | 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 . |