Index | PMID | Date | Reference |
---|---|---|---|
1 | 7668837 | 1995 | Thyagarajan, D., Shanske, S., Vazquez-Memije, M., De Vivo, D., DiMauro, S. (1995) A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis Annals of Neurology . 38 (3): 468-472 . |
2 | 9270604 | 1997 | Campos, Y., Martin, M.A., Rubio, J.C., Solana, L.G., Garcia-Benayas, C., Terradas, J.L., Arenas, J. (1997) Leigh syndrome associated with the T9176C mutation in the ATPase 6 gene of mitochondrial DNA Neurology . 49 (2): 595-597 . |
3 | 9501263 | 1998 | Dionisi-Vici, C., Seneca, S., Zeviani, M., Fariello, G., Rimoldi, M., Bertini, E., De Meirleir, L. (1998) Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene Journal of Inherited Metabolic Disease . 21 (1): 2-8 . |
4 | 9631394 | 1998 | Makino, M., Horai, S., Goto, Y., Nonaka, I. (1998) Confirmation that a T-to-C mutation at 9176 in mitochondrial DNA is an additional candidate mutation for Leigh's syndrome Neuromuscular Disorders . 8 (40606): 149-151 . |
5 | 10862082 | 2000 | Rubio-Gozalbo, M. E., Dijkman, K. P., van den Heuvel, L. P., Sengers, R. C., Wendel, U., Smeitink, J. A. (2000) Clinical differences in patients with mitochondriocytopathies due to nuclear versus mitochondrial DNA mutations Human Mutation . 15 (6): 522-532 . |
6 | 16120341 | 2003 | Nakano, K., Ohsawa, I., Yamagata, K., Nakayama, T., Sasaki, K., Tarashima, M., Saito, K., Osawa, M., Ohta, S. (2003) Continuous culture of novel mitochondrial cells lacking nuclei Mitochondrion . 3 (1): 21-27 . |
7 | 15753359 | 2005 | Shidara, Y., Yamagata, K., Kanamori, T., Nakano, K., Kwong, J. Q., Manfredi, G., Oda, H., Ohta, S. (2005) Positive contribution of pathogenic mutations in the mitochondrial genome to the promotion of cancer by prevention from apoptosis Cancer Research . 65 (5): 1655-1663 . |
8 | 18402672 | 2008 | Alvarez-Iglesias, V., Barros, F., Carracedo, A., Salas, A. (2008) Minisequencing mitochondrial DNA pathogenic mutations [METHODS] BMC Medical Genetics . 9 (-): 26 . |
9 | 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 . |
10 | 19747204 | 2010 | Verity, C. M., Winstone, A. M., Stellitano, L., Krishnakumar, D., Will, R., McFarland, R. (2010) The clinical presentation of mitochondrial diseases in children with progressive intellectual and neurological deterioration: a national, prospective, population-based study Developmental Medicine and Child Neurology . 52 (5): 434-140 . |
11 | 20056103 | 2010 | Kucharczyk, R., Ezkurdia, N., Couplan, E., Procaccio, V., Ackerman, S. H., Blondel, M., di Rago, J. P. (2010) Consequences of the pathogenic T9176C mutation of human mitochondrial DNA on yeast mitochondrial ATP synthase Biochimica et Biophysica Acta . 1797 (40701): 1105-1112 . |
12 | 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 . |
13 | 20074547 | 2010 | Mishmar, D., Zhidkov, I. (2010) Evolution and disease converge in the mitochondrion Biochimica et Biophysica Acta . 1797 (40701): 1099-1104 . |
14 | 20656066 | 2011 | Verny, C., Guegen, N., Desquiret, V., Chevrollier, A., Prundean, A., Dubas, F., Cassereau, J., Ferre, M., Amati-Bonneau, P., Bonneau, D., Reynier, P., Procaccio, V. (2011) Hereditary spastic paraplegia-like disorder due to a mitochondrial ATP6 gene point mutation Mitochondrion . 11 (1): 70-75 . |
15 | 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 . |
16 | 21819970 | 2011 | Ronchi, D., Bordoni, A., Cosi, A., Rizzuti, M., Fassone, E., Di Fonzo, A., Servida, M., Sciacco, M., Collotta, M., Ronzoni, M., Lucchini, V., Mattioli, M., Moggio, M., Bresolin, N., Corti, S., Comi, G. P. (2011) Unusual adult-onset Leigh syndrome presentation due to the mitochondrial m.9176T>C mutation Biochemical and Biophysical Research Communications . 412 (2): 245-248 . |
17 | 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 . |
18 | 24642831 | 2014 | Nesbitt, V., Alston, C. L., Blakely, E. L., Fratter, C., Feeney, C. L., Poulton, J., Brown, G. K., Turnbull, D. M., Taylor, R. W., McFarland, R. (2014) A national perspective on prenatal testing for mitochondrial disease European Journal of Human Genetics . 22 (11): 1255-1259 . |
19 | 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 . |
20 | 30128709 | 2018 | Wei, Y., Cui, L., Peng, B. (2018) Mitochondrial DNA mutations in late-onset Leigh syndrome Journal of Neurology . 265 (10): 2388-2395 . |
21 | 30136164 | 2018 | Wei, Y., Wang, L. (2018) Adult-onset Leigh syndrome with central fever and peripheral neuropathy due to mitochondrial 9176T>C mutation Neurological Sciences . 39 (12): 2225-2228 . |