Index | PMID | Date | Reference |
---|---|---|---|
1 | 14520668 | 2003 | Solano, A., Roig, M., Vives-Bauza, C., Hernandez-Pena, J., Garcia-Arumi, E., Playan, A., Lopez-Perez, M. J., Andreu, A. L., Montoya, J. (2003) Bilateral striatal necrosis associated with a novel mutation in the mitochondrial ND6 gene Annals of Neurology . 54 (4): 527-530 . |
2 | 14595656 | 2003 | Ugalde, C., Triepels, R. H., Coenen, M. J., van den Heuvel, L. P., Smeets, R., Uusimaa, J., Briones, P., Campistol, J., Majamaa, K., Smeitink, J. A., Nijtmans, L. G. (2003) Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene Annals of Neurology . 54 (5): 665-669 . |
3 | 14684687 | 2003 | Lebon, S., Chol, M., Benit, P., Mugnier, C., Chretien, D., Giurgea, I., Kern, I., Girardin, E., Hertz-Pannier, L., de Lonlay, P., Rotig, A., Rustin, P., Munnich, A. (2003) Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency Journal of Medical Genetics . 40 (12): 896-899 . |
4 | 15576045 | 2004 | Bugiani, M., Invernizzi, F., Alberio, S., Briem, E., Lamantea, E., Carrara, F., Moroni, I., Farina, L., Spada, M., Donati, M. A., Uziel, G., Zeviani, M. (2004) Clinical and molecular findings in children with complex I deficiency Biochimica et Biophysica Acta . 1659 (40577): 136-147 . |
5 | 15625630 | 2004 | Raspall-Chaure, M., Solano, A., Vazquez, E., Macaya-Ruiz, A., del Toro-Riera, M., Cabezuelo-Briones, A., Montoya, J., Andreu, A., Roig-Quilis, M. (2004) [A patient with bilateral lesion in the striatum and slowly progressive dystonia secondary to T14487C mutation in the ND6 gene of complex I of the mitochondrial respiratory chain] Revista de Neurologia . 39 (12): 1129-1132 . |
6 | 16044424 | 2005 | Esteitie, N., Hinttala, R., Wibom, R., Nilsson, H., Hance, N., Naess, K., Tear-Fahnehjelm, K., von Dobeln, U., Majamaa, K., Larsson, N. G. (2005) Secondary metabolic effects in complex I deficiency Annals of Neurology . 58 (4): 544-552 . |
7 | 16337195 | 2005 | Gonzalo, R., Garcia-Arumi, E., Llige, D., Marti, R., Solano, A., Montoya, J., Arenas, J., Andreu, A. L. (2005) Free radicals-mediated damage in transmitochondrial cells harboring the T14487C mutation in the ND6 gene of mtDNA FEBS Letters . 579 (30): 6909-6913 . |
8 | 15972314 | 2006 | Mitchell, A. L., Elson, J. L., Howell, N., Taylor, R. W., Turnbull, D. M. (2006) Sequence variation in mitochondrial complex I genes: mutation or polymorphism? Journal of Medical Genetics . 43 (2): 175-179 . |
9 | 17535832 | 2007 | Malfatti, E., Bugiani, M., Invernizzi, F., de Souza, C. F., Farina, L., Carrara, F., Lamantea, E., Antozzi, C., Confalonieri, P., Sanseverino, M. T., Giugliani, R., Uziel, G., Zeviani, M. (2007) Novel mutations of ND genes in complex I deficiency associated with mitochondrial encephalopathy Brain . 130 (Pt 7): 1894-1904 . |
10 | 18402672 | 2008 | Alvarez-Iglesias, V., Barros, F., Carracedo, A., Salas, A. (2008) Minisequencing mitochondrial DNA pathogenic mutations [METHODS] BMC Medical Genetics . 9 (-): 26 . |
11 | 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 . |
12 | 19062322 | 2009 | Wang, J., Brautbar, A., Chan, A. K., Dzwiniel, T., Li, F. Y., Waters, P. J., Graham, B. H., Wong, L. J. (2009) Two mtDNA mutations 14487T>C (M63V, ND6) and 12297T>C (tRNA Leu) in a Leigh syndrome family Molecular Genetics and Metabolism . 96 (2): 59-65 . |
13 | 19103152 | 2009 | Naess, K., Freyer, C., Bruhn, H., Wibom, R., Malm, G., Nennesmo, I., von Dobeln, U., Larsson, N. G. (2009) MtDNA mutations are a common cause of severe disease phenotypes in children with Leigh syndrome Biochimica et Biophysica Acta . 1787 (5): 484-490 . |
14 | 20019223 | 2010 | Dermaut, B., Seneca, S., Dom, L., Smets, K., Ceulemans, L., Smet, J., De Paepe, B., Tousseyn, S., Weckhuysen, S., Gewillig, M., Pals, P., Parizel, P., De Bleecker, J. L., Boon, P., De Meirleir, L., De Jonghe, P., Van Coster, R., Van Paesschen, W., Santens, P. (2010) Progressive myoclonic epilepsy as an adult-onset manifestation of Leigh syndrome due to m.14487T>C Journal of Neurology, Neurosurgery and Psychiatry . 81 (1): 90-93 . |
15 | 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 . |
16 | 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 . |
17 | 21196529 | 2011 | Leshinsky-Silver, E., Shuvalov, R., Inbar, S., Cohen, S., Lev, D., Lerman-Sagie, T. (2011) Juvenile Leigh syndrome, optic atrophy, ataxia, dystonia, and epilepsy due to T14487C mutation in the mtDNA-ND6 gene: a mitochondrial syndrome presenting from birth to adolescence Journal of Child Neurology . 26 (4): 476-481 . |
18 | 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 . |
19 | 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 . |
20 | 23010433 | 2012 | Martinelli, D., Catteruccia, M., Piemonte, F., Pastore, A., Tozzi, G., Dionisi-Vici, C., Pontrelli, G., Corsetti, T., Livadiotti, S., Kheifets, V., Hinman, A., Shrader, W. D., Thoolen, M., Klein, M. B., Bertini, E., Miller, G. (2012) EPI-743 reverses the progression of the pediatric mitochondrial disease--genetically defined Leigh Syndrome Molecular Genetics and Metabolism . 107 (3): 383-388 . |
21 | 23813926 | 2013 | Tarnopolsky, M., Meaney, B., Robinson, B., Sheldon, K., Boles, R. G. (2013) Severe infantile leigh syndrome associated with a rare mitochondrial ND6 mutation, m.14487T>C American Journal of Medical Genetics. Part A . 161A (8): 2020-2023 . |
22 | 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 . |
23 | 24126373 | 2013 | Spyropoulos, A., Manford, M., Horvath, R., Alston, C. L., Yu-Wai-Man, P., He, L., Taylor, R. W., Chinnery, P. F. (2013) Near-identical segregation of mtDNA heteroplasmy in blood, muscle, urinary epithelium, and hair follicles in twins with optic atrophy, ptosis, and intractable epilepsy JAMA Neurolology . 70 (12): 1552-1555 . |
24 | 26530508 | 2015 | Eckenweiler, M., Catarino, C. B., Gallenmueller, C., Klopstock, T., Lagreze, W. A., Korinthenberg, R., Kirschner, J. (2015) Mitochondrial DNA mutation 14487T>C manifesting as Leber's hereditary optic neuropathy Journal of Neurology . 262 (12): 2776-2779 . |
25 | 27338358 | 2016 | Sun, D., Li, B., Qiu, R., Fang, H., Lyu, J. (2016) Cell type-specific modulation of respiratory chain supercomplex organization International Journal of Molecular Sciences . 17 (6): . |
26 | NA | 2017 | Lloria, X., Catarino, C., Downes, S., Vincent, A., Matloob, S., Silva, M., Klopstock, T. (2017) Clinical experience with idebenone in the treatment of patients harboring rare mutations related to Leber's hereditary optic neuropathy (LHON) Acta Ophthalmologica . 95 (S259): Abstract from the 2017 European Association for Vision and Eye Research Conference . |
27 | 28122886 | 2017 | Sallevelt, S. C., Dreesen, J. C., Drusedau, M., Hellebrekers, D. M., Paulussen, A. D., Coonen, E., van Golde, R. J., Geraedts, J. P., Gianaroli, L., Magli, M. C., Zeviani, M., Smeets, H. J., de Die-Smulders, C. E. (2017) PGD for the m.14487 T>C mitochondrial DNA mutation resulted in the birth of a healthy boy Human Reproduction . 32 (3): 698-703 . |
28 | 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 . |
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31 | 30128709 | 2018 | Wei, Y., Cui, L., Peng, B. (2018) Mitochondrial DNA mutations in late-onset Leigh syndrome Journal of Neurology . 265 (10): 2388-2395 . |
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