| Index | PMID | Date | Reference |
|---|---|---|---|
| 1 | 9299505 | 1997 | Santorelli, F.M., Tanji, K., Kulikova, R., Shanske, S., Vilarinho, L., Hays, A.P., DiMauro, S. (1997) Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS Biochemical and Biophysical Research Communications . 238 (2): 326-328 . |
| 2 | 10589546 | 1999 | Pulkes, T., Eunson, L., Patterson, V., Siddiqui, A., Wood, N. W., Nelson, I. P., Morgan-Hughes, J. A., Hanna, M. G. (1999) The mitochondrial DNA G13513A transition in ND5 is associated with a LHON/MELAS overlap syndrome and may be a frequent cause of MELAS Annals of Neurology . 46 (6): 916-919 . |
| 3 | 10908920 | 2000 | Penisson-Besnier, I., Reynier, P., Asfar, P., Douay, O., Sortais, A., Dubas, F., Emile, J., Malthiery, Y. (2000) Recurrent brain hematomas in MELAS associated with an ND5 gene mitochondrial mutation Neurology . 55 (2): 317-318 . |
| 4 | 11198278 | 2001 | Corona, P., Antozzi, C., Carrara, F., D'Incerti, L., Lamantea, E., Tiranti, V., Zeviani, M. (2001) A novel mtDNA mutation in the ND5 subunit of complex I in two MELAS patients Annals of Neurology . 49 (1): 106-110 . |
| 5 | 12624137 | 2003 | Chol, M., Lebon, S., Benit, P., Chretien, D., de Lonlay, P., Goldenberg, A., Odent, S., Hertz-Pannier, L., Vincent-Delorme, C., Cormier-Daire, V., Rustin, P., Rotig, A., Munnich, A. (2003) The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency Journal of Human Genetics . 40 (3): 188-191 . |
| 6 | 14520659 | 2003 | Kirby, D. M., Boneh, A., Chow, C. W., Ohtake, A., Ryan, M. T., Thyagarajan, D., Thorburn, D. R. (2003) Low mutant load of mitochondrial DNA G13513A mutation can cause Leigh's disease Annals of Neurology . 54 (4): 473-478 . |
| 7 | 14730434 | 2004 | Sudo, A., Honzawa, S., Nonaka, I., Goto, Y. (2004) Leigh syndrome caused by mitochondrial DNA G13513A mutation: frequency and clinical features in Japan Journal of Human Genetics . 49 (2): 92-96 . |
| 8 | 15382008 | 2004 | Achilli, A., Rengo, C., Magri, C., Battaglia, V., Olivieri, A., Scozzari, R., Cruciani, F., Zeviani, M., Briem, E., Carelli, V., Moral, P., Dugoujon, J. M., Roostalu, U., Loogvali, E. L., Kivisild, T., Bandelt, H. J., Richards, M., Villems, R., Santachiara-Benerecetti, A. S., Semino, O., Torroni, A. (2004) The molecular dissection of mtDNA haplogroup H confirms that the Franco-Cantabrian glacial refuge was a major source for the European gene pool American Journal of Human Genetics . 75 (5): 910-918 . |
| 9 | 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 . |
| 10 | 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 . |
| 11 | 16483543 | 2006 | Cassandrini, D., Calevo, M. G., Tessa, A., Manfredi, G., Fattori, F., Meschini, M. C., Carrozzo, R., Tonoli, E., Pedemonte, M., Minetti, C., Zara, F., Santorelli, F. M., Bruno, C. (2006) A new method for analysis of mitochondrial DNA point mutations and assess levels of heteroplasmy Biochemical and Biophysical Research Communications . 342 (2): 387-393 . |
| 12 | 17400793 | 2007 | Blok, M. J., Spruijt, L., de Coo, I. F., Schoonderwoerd, K., Hendrickx, A., Smeets, H. J. (2007) Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation disease Journal of Medical Genetics . 44 (4): e74 . |
| 13 | 18332249 | 2008 | Shanske, S., Coku, J., Lu, J., Ganesh, J., Krishna, S., Tanji, K., Bonilla, E., Naini, A. B., Hirano, M., DiMauro, S. (2008) The G13513A mutation in the ND5 gene of mitochondrial DNA as a common cause of MELAS or Leigh syndrome: evidence from 12 cases Archives of Neurology . 65 (3): 368-372 . |
| 14 | 18402672 | 2008 | Alvarez-Iglesias, V., Barros, F., Carracedo, A., Salas, A. (2008) Minisequencing mitochondrial DNA pathogenic mutations [METHODS] BMC Medical Genetics . 9 (-): 26 . |
| 15 | 18495510 | 2008 | Brautbar, A., Wang, J., Abdenur, J. E., Chang, R. C., Thomas, J. A., Grebe, T. A., Lim, C., Weng, S. W., Graham, B. H., Wong, L. J. (2008) The mitochondrial 13513G>A mutation is associated with Leigh disease phenotypes independent of complex I deficiency in muscle Molecular Genetics and Metabolism . 94 (4): 485-490 . |
| 16 | 18674747 | 2008 | Elliott, H. R., Samuels, D. C., Eden, J. A., Relton, C. L., Chinnery, P. F. (2008) Pathogenic mitochondrial DNA mutations are common in the general population American Journal of Human Genetics . 83 (2): 254-260 . |
| 17 | 19054921 | 2008 | Wang, S. B., Weng, W. C., Lee, N. C., Hwu, W. L., Fan, P. C., Lee, W. T. (2008) Mutation of mitochondrial DNA G13513A presenting with Leigh syndrome, Wolff-Parkinson-White syndrome and cardiomyopathy Pediatrics and Neonatology . 49 (4): 145-149 . |
| 18 | 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 . |
| 19 | 19268652 | 2009 | Carelli, V., La Morgia, C., Valentino, M. L., Barboni, P., Ross-Cisneros, F. N., Sadun, A. A. (2009) Retinal ganglion cell neurodegeneration in mitochondrial inherited disorders Biochimica et Biophysica Acta . 1787 (5): 518-528 . |
| 20 | 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 . |
| 21 | 19617458 | 2009 | Lim, B. C., Park, J. D., Hwang, H., Kim, K. J., Hwang, Y. S., Chae, J. H., Cheon, J. E., Kim, I. O., Lee, R., Moon, H. K. (2009) Mutations in ND subunits of complex I are an important genetic cause of childhood mitochondrial encephalopathies Journal of Child Neurology . 24 (7): 828-832 . |
| 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 | 20408961 | 2010 | Wang, Z., Qi, X. K., Yao, S., Chen, B., Luan, X., Zhang, W., Han, M., Yuan, Y. (2010) Phenotypic patterns of MELAS/LS overlap syndrome associated with m.13513G>A mutation, and neuropathological findings in one autopsy case Neuropathology . 30 (6): 606-614 . |
| 24 | 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 . |
| 25 | 21174521 | 2011 | Hsieh, Y. T., Yang, M. T., Peng, Y. J., Hsu, W. C. (2011) Central retinal vein occlusion as the initial manifestation of LHON / MELAS overlap syndrome with mitochondrial DNA G13513A mutation--case report and literature review Ophthalmic Genetics . 32 (1): 31-38 . |
| 26 | 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 . |
| 27 | 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 . |
| 28 | 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 . |
| 29 | 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 . |
| 30 | 23874496 | 2013 | Sobenin, I. A., Sazonova, M. A., Postnov, A. Y., Salonen, J. T., Bobryshev, Y. V., Orekhov, A. N. (2013) Association of mitochondrial genetic variation with carotid atherosclerosis PLoS One . 8 (7): e68070 . |
| 31 | 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 . |
| 32 | 24931247 | 2014 | Liu, Y., Xue, J., Zhao, D., Chen, L., Yuan, Y., Wang, Z. (2014) Audiological evaluation in Chinese patients with mitochondrial encephalomyopathies Chinese Medical Journal (English) . 127 (12): 2304-2309 . |
| 33 | 25192510 | 2014 | Haas, R. H., Zolkipli, Z. (2014) Mitochondrial disorders affecting the nervous system Seminars in Neurology . 32 (3): 321-340 . |
| 34 | 24667782 | 2015 | Seneca, S., Vancampenhout, K., Van Coster, R., Smet, J., Lissens, W., Vanlander, A., De Paepe, B., Jonckheere, A., Stouffs, K., De Meirleir, L. (2015) Analysis of the whole mitochondrial genome: translation of the Ion Torrent Personal Genome Machine system to the diagnostic bench? European Journal of Human Genetics . 23 (1): 41-48 . |
| 35 | 27919073 | 2016 | Kang, E., Wu, J., Gutierrez, N. M., Koski, A., Tippner-Hedges, R., Agaronyan, K., Platero-Luengo, A., Martinez-Redondo, P., Ma, H., Lee, Y., Hayama, T., Van Dyken, C., Wang, X., Luo, S., Ahmed, R., Li, Y., Ji, D., Kayali, R., Cinnioglu, C., Olson, S., Jensen, J., Battaglia, D., Lee, D., Wu, D., Huang, T., Wolf, D. P., Temiakov, D., Belmonte, J. C., Amato, P., Mitalipov, S. (2016) Mitochondrial replacement in human oocytes carrying pathogenic mitochondrial DNA mutations Nature . 540 (7632): 270-275 [2016 author correction (2016) at doi.org/10.1038/s41586-019-0876-1; comment (2019) at doi.org/10.1038/s41586-019-1623-3] . |
| 36 | 27450679 | 2017 | Sallevelt, S. C., de Die-Smulders, C. E., Hendrickx, A. T., Hellebrekers, D. M., de Coo, I. F., Alston, C. L., Knowles, C., Taylor, R. W., McFarland, R., Smeets, H. J. (2017) De novo mtDNA point mutations are common and have a low recurrence risk Journal of Medical Genetics . 54 (2): 73-83 . |
| 37 | 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 . |
| 38 | 28951770 | 2017 | Sazonova, M. A., Sinyov, V. V., Ryzhkova, A. I., Galitsyna, E. V., Khasanova, Z. B., Postnov, A. Y., Yarygina, E. I., Orekhov, A. N., Sobenin, I. A. (2017) Role of mitochondrial genome mutations in pathogenesis of carotid atherosclerosis Oxidative Medicine and Cellular Longevity . 2017 (): 6934394 . |
| 39 | 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 . |
| 40 | 29428506 | 2018 | Ganetzky, R. D., Falk, M. J. (2018) 8-year retrospective analysis of intravenous arginine therapy for acute metabolic strokes in pediatric mitochondrial disease Molecular Genetics and Metabolism . 123 (3): 301-308 . |
| 41 | 29670672 | 2018 | Sazonova, M. A., Ryzhkova, A. I., Sinyov, V. V., Galitsyna, E. V., Melnichenko, A. A., Demakova, N. A., Sobenin, I. A., Shkurat, T. P., Orekhov, A. N. (2018) Mitochondrial genome mutations associated with myocardial infarction Disease Markers . 2018 (): 9749457 . |
| 42 | 30095618 | 2018 | Ma, Y. Y., Li, X. Y., Li, Z. Q., Song, J. Q., Hou, J., Li, J. H., Sun, L., Jiang, J., Yang, Y. L. (2018) Clinical, biochemical, and genetic analysis of the mitochondrial respiratory chain complex I deficiency Medicine (Baltimore) . 97 (32): e11606 . |
| 43 | 30128709 | 2018 | Wei, Y., Cui, L., Peng, B. (2018) Mitochondrial DNA mutations in late-onset Leigh syndrome Journal of Neurology . 265 (10): 2388-2395 . |
| 44 | 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 . |
| 45 | 30950033 | 2019 | Galera-Monge, T., Zurita-Diaz, F., Garesse, R., Gallardo, M. E. (2019) The mutation m.13513G>A impairs cardiac function, favoring a neuroectoderm commitment, in a mutant-load dependent way Journal of Cellular Physiology . 234 (11): 19511-19522 . |
| 46 | 31669237 | 2020 | Krylova, T. D., Sheremet, N. L., Tabakov, V. Y., Lyamzaev, K. G., Itkis, Y. S., Tsygankova, P. G., Andreeva, N. A., Shmelkova, M. S., Nevinitsyna, T. A., Kadyshev, V. V., Zakharova, E. Y. (2020) Three rare pathogenic mtDNA substitutions in LHON patients with low heteroplasmy Mitochondrion . 50 (): 139-144 . |
| 47 | 31996177 | 2020 | Danhelovska, T., Kolarova, H., Zeman, J., Hansikova, H., Vaneckova, M., Lambert, L., Kucerova-Vidrova, V., Berankova, K., Honzik, T., Tesarova, M. (2020) Multisystem mitochondrial diseases due to mutations in mtDNA-encoded subunits of complex I BMC Pediatr . 20 (1): 41 . |
| 48 | 32220313 | 2020 | Russell, O. M., Gorman, G. S., Lightowlers, R. N., Turnbull, D. M. (2020) Mitochondrial diseases: hope for the future Cell . 181 (1): 168-188 . |
| 49 | 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 . |
| 50 | 33746872 | 2021 | Sun, C. B., Bai, H. X., Xu, D. N., Xiao, Q., Liu, Z. (2021) Mitochondrial 13513G>A mutation with low mutant load presenting as isolated Leber's hereditary optic neuropathy assessed by next generation sequencing Frontiers in Neurology . 12 (): 601307 . |
| 51 | 34146515 | 2021 | Ng, Y. S., Bindoff, L. A., Gorman, G. S., Klopstock, T., Kornblum, C., Mancuso, M., McFarland, R., Sue, C. M., Suomalainen, A., Taylor, R. W., Thorburn, D. R., Turnbull, D. M. (2021) Mitochondrial disease in adults: recent advances and future promise [Review] Lancet Neurology . 20 (7): 573-584 . |
| 52 | 34670906 | 2022 | Hirosawa, H., Nukui, T., Noguchi, K., Nakatsuji, Y. (2022) Adult-onset Leigh syndrome due to an m.13513G>A mutation Internal Medicine . 61 (10): 1627-1628 . |