Index | PMID | Date | Reference |
---|---|---|---|
1 | 16217706 | 2005 | Moslemi, A. R., Darin, N., Tulinius, M., Oldfors, A., Holme, E. (2005) Two new mutations in the MTATP6 gene associated with Leigh syndrome Neuropediatrics . 36 (5): 314-8 . |
2 | 17352390 | 2007 | Castagna, A. E., Addis, J., McInnes, R. R., Clarke, J. T., Ashby, P., Blaser, S., Robinson, B. H. (2007) Late onset Leigh syndrome and ataxia due to a T to C mutation at bp 9,185 of mitochondrial DNA American Journal of Medical Genetics . 143A (8): 808-816 . |
3 | 18461509 | 2007 | Childs, A. M., Hutchin, T., Pysden, K., Highet, L., Bamford, J., Livingston, J., Crow, Y. J. (2007) Variable phenotype including Leigh Syndrome with a 9185T>C mutation in the mtATP6 gene Neuropediatrics . 38 (6): 313-316 . |
4 | 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 . |
5 | 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 . |
6 | 20546952 | 2010 | Saneto, R. P., Singh, K. K. (2010) Illness-induced exacerbation of Leigh syndrome in a patient with the MTATP6 mutation, m. 9185 T>C Mitochondrion . 10 (5): 567-572 . |
7 | 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 . |
8 | 21473984 | 2011 | Gigarel, N., Hesters, L., Samuels, D. C., Monnot, S., Burlet, P., Kerbrat, V., Lamazou, F., Benachi, A., Frydman, R., Feingold, J., Rotig, A., Munnich, A., Bonnefont, J. P., Frydman, N., Steffann, J. (2011) Poor correlations in the levels of pathogenic mitochondrial DNA mutations in polar bodies versus oocytes and blastomeres in humans American Journal of Human Genetics . 88 (4): 494-498 . |
9 | 22577227 | 2012 | Pfeffer, G., Blakely, E. L., Alston, C. L., Hassani, A., Boggild, M., Horvath, R., Samuels, D. C., Taylor, R. W., Chinnery, P. F. (2012) Adult-onset spinocerebellar ataxia syndromes due to MTATP6 mutations Journal of Neurology, Neurosurgery and Psychiatry 83 (9): 883-886 |
10 | 22933740 | 2012 | Pitceathly, R. D., Murphy, S. M., Cottenie, E., Chalasani, A., Sweeney, M. G., Woodward, C., Mudanohwo, E. E., Hargreaves, I., Heales, S., Land, J., Holton, J. L., Houlden, H., Blake, J., Champion, M., Flinter, F., Robb, S. A., Page, R., Rose, M., Palace, J., Crowe, C., Longman, C., Lunn, M. P., Rahman, S., Reilly, M. M., Hanna, M. G. (2012) Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease Neurology . 79 (11): 1145-1154 . |
11 | 23847141 | 2013 | Bannwarth, S., Procaccio, V., Lebre, A. S., Jardel, C., Chaussenot, A., Hoarau, C., Maoulida, H., Charrier, N., Gai, X., Xie, H. M., Ferre, M., Fragaki, K., Hardy, G., Mousson de Camaret, B., Marlin, S., Dhaenens, C. M., Slama, A., Rocher, C., Paul Bonnefont, J., Rotig, A., Aoutil, N., Gilleron, M., Desquiret-Dumas, V., Reynier, P., Ceresuela, J., Jonard, L., Devos, A., Espil-Taris, C., Martinez, D., Gaignard, P., Le Quan Sang, K. H., Amati-Bonneau, P., Falk, M. J., Florentz, C., Chabrol, B., Durand-Zaleski, I., Paquis-Flucklinger, V. (2013) Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders Journal of Medical Genetics . 50 (10): 704-714 . |
12 | 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 . |
13 | 24316278 | 2014 | Kabala, A. M., Lasserre, J. P., Ackerman, S. H., di Rago, J. P., Kucharczyk, R. (2014) Defining the impact on yeast ATP synthase of two pathogenic human mitochondrial DNA mutations, T9185C and T9191C Biochimie 100 (): 200-206 . |
14 | 25548692 | 2014 | Brum, M., Semedo, C., Guerreiro, R., Pinto Marques, J. (2014) Motor neuron syndrome as a new phenotypic manifestation of mutation 9185T>C in gene mtATP6 Case Reports in Neurological Medicine 2014 (): 701761 . |
15 | 27290639 | 2016 | Pronicka, E., Piekutowska-Abramczuk, D., Ciara, E., Trubicka, J., Rokicki, D., Karkucinska-Wieckowska, A., Pajdowska, M., Jurkiewicz, E., Halat, P., Kosinska, J., Pollak, A., Rydzanicz, M., Stawinski, P., Pronicki, M., Krajewska-Walasek, M., Ploski, R. (2016) New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre Journal of Translational Medicine . 14 (1): 174 . |
16 | 27783406 | 2017 | Panosyan, F. B., Tawil, R., Herrmann, D. N. (2017) Episodic weakness and Charcot-Marie-Tooth disease due to a mitochondrial MT-ATP6 mutation Muscle and Nerve . 55 (6): 922-927 . |
17 | 28132834 | 2017 | Lorenz, C., Lesimple, P., Bukowiecki, R., Zink, A., Inak, G., Mlody, B., Singh, M., Semtner, M., Mah, N., Aure, K., Leong, M., Zabiegalov, O., Lyras, E. M., Pfiffer, V., Fauler, B., Eichhorst, J., Wiesner, B., Huebner, N., Priller, J., Mielke, T., Meierhofer, D., Izsvak, Z., Meier, J. C., Bouillaud, F., Adjaye, J., Schuelke, M., Wanker, E. E., Lombes, A., Prigione, A. (2017) Human iPSC-derived neural progenitors are an effective drug discovery model for neurological mtDNA disorders Cell Stem Cell . 20 (5): 659-674 e9 . |
18 | 28429146 | 2017 | Ogawa, E., Shimura, M., Fushimi, T., Tajika, M., Ichimoto, K., Matsunaga, A., Tsuruoka, T., Ishige, M., Fuchigami, T., Yamazaki, T., Mori, M., Kohda, M., Kishita, Y., Okazaki, Y., Takahashi, S., Ohtake, A., Murayama, K. (2017) Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients Journal of Inherited Metabolic Disease . 40 (5): 685-693 . |
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 | 28754700 | 2018 | Vachin, P., Adda-Herzog, E., Chalouhi, G., Elie, C., Rio, M., Rondeau, S., Gigarel, N., Jabot Hanin, F., Monnot, S., Borghese, R., Bengoa, J., Ville, Y., Rotig, A., Munnich, A., Bonnefont, J. P., Steffann, J. (2018) Segregation of mitochondrial DNA mutations in the human placenta: implication for prenatal diagnosis of mtDNA disorders Journal of Medical Genetics . 55 (2): 131-136 . |
21 | 29116603 | 2018 | Piekutowska-Abramczuk, D., Rutyna, R., Czyzyk, E., Jurkiewicz, E., Iwanicka-Pronicka, K., Rokicki, D., Stachowicz, S., Strzemecka, J., Guz, W., Gawronski, M., Kosierb, A., Ligas, J., Puchala, M., Drelich-Zbroja, A., Bednarska-Makaruk, M., Dabrowski, W., Ciara, E., Ksiazyk, J. B., Pronicka, E. (2018) Leigh syndrome in individuals bearing m.9185T>C MTATP6 variant. Is hyperventilation a factor which starts its development? Metabolic Brain Disease . 33 (1): 191-199 . |
22 | 29228836 | 2018 | Pelnena, D., Burnyte, B., Jankevics, E., Lace, B., Dagyte, E., Grigalioniene, K., Utkus, A., Krumina, Z., Rozentale, J., Adomaitiene, I., Stavusis, J., Pliss, L., Inashkina, I. (2018) Complete mtDNA sequencing reveals mutations m.9185T>C and m.13513G>A in three patients with Leigh syndrome Mitochondrial DNA. Part A, DNA Mapping, Sequencing, and Analysis . 29 (7): 1115-1120 . |
23 | 29467576 | 2018 | Volobueva, A. S., Melnichenko, A. A., Grechko, A. V., Orekhov, A. N. (2018) Mitochondrial genome variability: the effect on cellular functional activity [Review] Therapeutics and Clinical Risk Management . 14 (): 237-245 |
24 | 30128709 | 2018 | Wei, Y., Cui, L., Peng, B. (2018) Mitochondrial DNA mutations in late-onset Leigh syndrome Journal of Neurology . 265 (10): 2388-2395 . |
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 | 30461153 | 2019 | Kuleva, M., Ben Miled, S., Steffann, J., Bonnefont, J. P., Rondeau, S., Ville, Y., Munnich, A., Salomon, L. J. (2019) Increased incidence of obstetric complications in women carrying mitochondrial DNA mutations: a retrospective cohort study in a single tertiary centre BJOG . 126 (11): 1372-1379 . |
27 | 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 . |
28 | 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 . |
29 | 31500933 | 2020 | Takada, R., Tozawa, T., Kondo, H., Kizaki, Z., Kishita, Y., Okazaki, Y., Murayama, K., Ohtake, A., Chiyonobu, T. (2020) Early infantile-onset Leigh syndrome complicated with infantile spasms associated with the m.9185T>C variant in the MT-ATP6 gene: Expanding the clinical spectrum Brain and Development . 42 (1): 69-72 . |
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 . |
32 | NA | 2021 | Bakare, A. B., Daniel, J., Stabach, J., Rojas, A., Bell, A., Henry, B., Iyer, S. (2021) Quantifying mitochondrial dynamics in patient fibroblasts with multiple developmental defects and mitochondrial disorders International Journal of Molecular Sciences . 22 (12): 6263 . |
33 | 33717984 | 2021 | Loos, M. A., Gomez, G., Mayorga, L., Caraballo, R. H., Eiroa, H. D., Obregon, M. G., Rugilo, C., Lubieniecki, F., Taratuto, A. L., Saccoliti, M., Alonso, C. N., Araoz, H. V. (2021) Clinical and molecular characterization of mitochondrial DNA disorders in a group of Argentinian pediatric patients Molecular Genetics and Metabolism Reports . 27 (): 100733 . |
34 | 34329598 | 2021 | Palombo, F., Peron, C., Caporali, L., Iannielli, A., Maresca, A., Di Meo, I., Fiorini, C., Segnali, A., Sciacca, F. L., Rizzo, A., Levi, S., Suomalainen, A., Prigione, A., Broccoli, V., Carelli, V., Tiranti, V. (2021) The relevance of mitochondrial DNA variants fluctuation during reprogramming and neuronal differentiation of human iPSCs Stem Cell Reports . 16 (8): 1953-1967 . |