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 | 18620007 | 2009 | Kucharczyk, R., Zick, M., Bietenhader, M., Rak, M., Couplan, E., Blondel, M., Caubet, S. D., di Rago, J. P. (2009) Mitochondrial ATP synthase disorders: molecular mechanisms and the quest for curative therapeutic approaches Biochimica et Biophysica Acta . 1793 (1): 186-199 . |
10 | 19160410 | 2009 | Vazquez-Memije, M. E., Rizza, T., Meschini, M. C., Nesti, C., Santorelli, F. M., Carrozzo, R. (2009) Cellular and functional analysis of four mutations located in the mitochondrial ATPase6 gene Journal of Cellular Biochemistry . 106 (5): 878-886 . |
11 | 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 . |
12 | 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 . |
13 | 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 . |
14 | 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 . |
15 | 20074547 | 2010 | Mishmar, D., Zhidkov, I. (2010) Evolution and disease converge in the mitochondrion Biochimica et Biophysica Acta . 1797 (40701): 1099-1104 . |
16 | 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 . |
17 | 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 . |
18 | 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 . |
19 | 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 . |
20 | 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 . |
21 | 29038134 | 2017 | Oh, E. H., Chae, S. H., Cho, J. W., Baik, S. K., Choi, S. Y., Choi, K. D., Choi, J. H. (2017) Fatigable ptosis as an initial presentation of adult-onset Leigh syndrome Neurology . 89 (16): 1754 . |
22 | 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 . |
23 | 30128709 | 2018 | Wei, Y., Cui, L., Peng, B. (2018) Mitochondrial DNA mutations in late-onset Leigh syndrome Journal of Neurology . 265 (10): 2388-2395 . |
24 | 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 . |
25 | 29756269 | 2019 | Dong, H. L., Ma, Y., Li, Q. F., Du, Y. C., Yang, L., Chen, S., Wu, Z. Y. (2019) Genetic and clinical features of Chinese patients with mitochondrial ataxia identified by targeted next-generation sequencing CNS Neuroscience and Therapeutics . 25 (1): 21-29 . |
26 | 30763462 | 2019 | Ganetzky, R. D., Stendel, C., McCormick, E. M., Zolkipli-Cunningham, Z., Goldstein, A. C., Klopstock, T., Falk, M. J. (2019) MT-ATP6 mitochondrial disease variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases Human Mutation . 40 (5): 499-515 . |
27 | 31187502 | 2019 | Ng, Y. S., Martikainen, M. H., Gorman, G. S., Blain, A., Bugiardini, E., Bunting, A., Schaefer, A. M., Alston, C. L., Blakely, E. L., Sharma, S., Hughes, I., Lim, A., de Goede, C., McEntagart, M., Spinty, S., Horrocks, I., Roberts, M., Woodward, C. E., Chinnery, P. F., Horvath, R., Nesbitt, V., Fratter, C., Poulton, J., Hanna, M. G., Pitceathly, R. D. S., Taylor, R. W., Turnbull, D. M., McFarland, R. (2019) Pathogenic variants in MT-ATP6: A United Kingdom-based mitochondrial disease cohort study Annals of Neurology . 86 (2): 310-315 . |
28 | 31625254 | 2019 | Ichikawa, K., Tsuyusaki, Y., Shimbo, H., Goto, T. (2019) Late-onset Leigh syndrome with m.9176T>C mutation in the mitochondrial ATPase 6 gene Pediatrics International . 61 (10): 1055-1056 . |
29 | 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 . |
30 | 31996241 | 2020 | Schubert Baldo, M., Vilarinho, L. (2020) Molecular basis of Leigh syndrome: a current look Orphanet Journal of Rare Diseases . 15 (1): 31 . |
31 | 32042921 | 2020 | Stendel, C., Neuhofer, C., Floride, E., Yuqing, S., Ganetzky, R. D., Park, J., Freisinger, P., Kornblum, C., Kleinle, S., Schols, L., Distelmaier, F., Stettner, G. M., Buchner, B., Falk, M. J., Mayr, J. A., Synofzik, M., Abicht, A., Haack, T. B., Prokisch, H., Wortmann, S. B., Murayama, K., Fang, F., Klopstock, T., Group, A. T. P. S. (2020) Delineating MT-ATP6-associated disease: From isolated neuropathy to early onset neurodegeneration Neurology. Genetics . 6 (1): e393 . |