| Index | PMID | Date | Reference |
|---|---|---|---|
| 1 | NA | 1994 | Jun, A.S., Trounce, I.A., Brown, M.D., Shoffner, J.M., Kim, Y.L., Wallace, D.C. (1994) Marked complex I deficiency in patients harboring the np14459 ND6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy and dystonia American Journal of Human Genetics . 55 (Suppl): A225 (Abst.1311) . |
| 2 | 8016139 | 1994 | Jun, A.S., Brown, M.D., Wallace, D.C. (1994) A mitochondrial DNA mutation at np 14459 of the ND6 gene associated with maternally inherited Leber's hereditary optic neuropathy and dystonia Proceedings of the National Academy of Sciences of the United States of America . 91 (13): 6206-6210 . |
| 3 | 7654063 | 1995 | Shoffner, J.M., Brown, M.D., Stugard, C., Jun, A.S., Pollok, S., Haas, R.H., Kaufman, A., Koontz, D., Kim, Y., Graham, J., Smith, E., Dixon, J., Wallace, D.C. (1995) Leber's hereditary optic neuropathy plus dystonia is caused by a mitochondrial DNA point mutation in a complex I subunit Annals of Neurology . 38 (2): 163-169 . |
| 4 | 7760326 | 1995 | Riordan-Eva, P., Harding, A.E. (1995) Leber's hereditary optic neuropathy: the clinical relevance of different mitochondrial DNA mutations Journal of Medical Genetics . 32 (2): 81-87 . |
| 5 | 8680405 | 1995 | Brown, M.D., Torroni, A., Reckord, C.L., Wallace, D.C. (1995) Phylogenetic analysis of Leber's hereditary optic neuropathy mitochondrial DNA's indicates multiple independent occurrences of the common mutations Human Mutation . 6 (4): 311-325 . |
| 6 | 8622678 | 1996 | Jun, A.S., Trounce, I.A., Brown, M.D., Shoffner, J.M., Wallace, D.C. (1996) Use of transmitochondrial cybrids to assign a complex I defect to the mitochondrial DNA-encoded NADH dehydrogenase subunit 6 gene mutation at nucleotide pair 14459 that causes Leber hereditary optic neuropathy and dystonia Molecular and Cellular Biology . 16 (3): 771-777 . |
| 7 | 10072046 | 1999 | Carelli, V., Ghelli, A., Bucchi, L., Montagna, P., De Negri, A., Leuzzi, V., Carducci, C., Lenaz, G., Lugaresi, E., Degli Esposti, M. (1999) Biochemical features of mtDNA 14484 (ND6/M64V) point mutation associated with Leber's hereditary optic neuropathy Annals of Neurology . 45 (3): 320-328 . |
| 8 | 10426138 | 1999 | Brown, M. D. (1999) The enigmatic relationship between mitochondrial dysfunction and Leber's hereditary optic neuropathy Journal of the Neurological Sciences . 165 (1): 1-5 . |
| 9 | 10894222 | 2000 | Kirby, D. M., Kahler, S. G., Freckmann, M. L., Reddihough, D., Thorburn, D. R. (2000) Leigh disease caused by the mitochondrial DNA G14459A mutation in unrelated families Annals of Neurology . 48 (1): 102-104 . |
| 10 | 12205655 | 2002 | Funalot, B., Reynier, P., Vighetto, A., Ranoux, D., Bonnefont, J. P., Godinot, C., Malthiery, Y., Mas, J.L. (2002) Leigh-like encephalopathy complicating Leber's hereditary optic neuropathy Annals of Neurology . 52 (3): 374-377 . |
| 11 | 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 . |
| 12 | 14735584 | 2004 | Tarnopolsky, M. A., Baker, S. K., Myint, T., Maxner, C. E., Robitaille, J., Robinson, B. H. (2004) Clinical variability in maternally inherited Leber hereditary optic neuropathy with the G14459A mutation American Journal of Medical Genetics . 124A (4): 372-376 . |
| 13 | 14735585 | 2004 | Gropman, A., Chen, T. J., Perng, C. L., Krasnewich, D., Chernoff, E., Tifft, C., Wong, L. J. (2004) Variable clinical manifestation of homoplasmic G14459A mitochondrial DNA mutation American Journal of Medical Genetics . 124A (4): 377-182 . |
| 14 | 15126312 | 2004 | Houshmand, M., Sharifpanah, F., Tabasi, A., Sanati, M. H., Vakilian, M., Lavasani, S. H., Joughehdoust, S. (2004) Leber's hereditary optic neuropathy: the spectrum of mitochondrial DNA mutations in Iranian patients Annals of the New York Academy of Sciences . 1011 (-): 345-349 . |
| 15 | 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 . |
| 16 | 18402672 | 2008 | Alvarez-Iglesias, V., Barros, F., Carracedo, A., Salas, A. (2008) Minisequencing mitochondrial DNA pathogenic mutations [METHODS] BMC Medical Genetics . 9 (-): 26 . |
| 17 | 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 . |
| 18 | 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 . |
| 19 | 19714555 | 2009 | Gutierrez, A., Saldana-Martinez, A., Garcia-Ramirez, R., Rayo-Mares, D., Carreras, M., Lopez-Perez, M. J., Ruiz-Pesini, E., Montoya, J., Montiel-Sosa, J. F. (2009) [Leigh syndrome caused by the mitochondrial DNA G14459A mutation in a Mexican family] Revue Neurologique (Paris) . 49 (5): 248-250 . |
| 20 | 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 . |
| 21 | 21067478 | 2010 | Bosley, T. M., Abu-Amero, K. K. (2010) Assessing mitochondrial DNA nucleotide changes in spontaneous optic neuropathies Ophthalmic Genetics . 31 (4): 163-172 . |
| 22 | 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 . |
| 23 | 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 . |
| 24 | 21749722 | 2011 | Ronchi, D., Cosi, A., Tonduti, D., Orcesi, S., Bordoni, A., Fortunato, F., Rizzuti, M., Sciacco, M., Collotta, M., Cagdas, S., Capovilla, G., Moggio, M., Berardinelli, A., Veggiotti, P., Comi, G. P. (2011) Clinical and molecular features of an infant patient affected by Leigh Disease associated to m.14459G>A mitochondrial DNA mutation: a case report BMC Neurology . 11 (): 85 . |
| 25 | 22879922 | 2012 | Achilli, A., Iommarini, L., Olivieri, A., Pala, M., Kashani, B. H., Reynier, P., La Morgia, C., Valentino, M. L., Liguori, R., Pizza, F., Barboni, P., Sadun, F., De Negri, A., Zeviani, M., Dollfus, H., Moulignier, A., Ducos, G., Orssaud, C., Bonneau, D., Procaccio, V., Leo-Kottler, B., Fauser, S., Wissinger, B., Amati-Bonneau, P., Torroni, A., Carelli, V. (2012) Rare primary mitochondrial DNA mutations and synergistic variants in Leber's hereditary optic neuropathy PLOS One . 7 (8): e42242 . |
| 26 | 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 . |
| 27 | 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 . |
| 28 | 24398099 | 2014 | Liang, M., Jiang, P., Li, F., Zhang, J., Ji, Y., He, Y., Xu, M., Zhu, J., Meng, X., Zhao, F., Tong, Y., Liu, X., Sun, Y., Zhou, X., Mo, J. Q., Qu, J., Guan, M. X. (2014) Frequency and spectrum of mitochondrial ND6 mutations in 1218 Han Chinese subjects with Leber's hereditary optic neuropathy Investigative Ophthalmology and Visual Science . 55 (3): 1321-1331 . |
| 29 | 25834827 | 2015 | Sazonova, M. A., Sinyov, V. V., Barinova, V. A., Ryzhkova, A. I., Zhelankin, A. V., Postnov, A. Y., Sobenin, I. A., Bobryshev, Y. V., Orekhov, A. N. (2015) Mosaicism of mitochondrial genetic variation in atherosclerotic lesions of the human aorta BioMed Research International . 2015 (): 825468 . |
| 30 | 26741492 | 2016 | Kohda, M., Tokuzawa, Y., Kishita, Y., Nyuzuki, H., Moriyama, Y., Mizuno, Y., Hirata, T., Yatsuka, Y., Yamashita-Sugahara, Y., Nakachi, Y., Kato, H., Okuda, A., Tamaru, S., Borna, N. N., Banshoya, K., Aigaki, T., Sato-Miyata, Y., Ohnuma, K., Suzuki, T., Nagao, A., Maehata, H., Matsuda, F., Higasa, K., Nagasaki, M., Yasuda, J., Yamamoto, M., Fushimi, T., Shimura, M., Kaiho-Ichimoto, K., Harashima, H., Yamazaki, T., Mori, M., Murayama, K., Ohtake, A., Okazaki, Y. (2016) A comprehensive genomic analysis reveals the genetic landscape of mitochondrial respiratory chain complex deficiencies PLoS Genetics . 12 (1): e1005679 . |
| 31 | 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 . |
| 32 | 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 . |
| 33 | 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 . |
| 34 | 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 . |
| 35 | 29987491 | 2018 | O'Keefe, H., Queen, R. A., Meldau, S., Lord, P., Elson, J. L. (2018) Haplogroup context is less important in the penetrance of mitochondrial DNA complex I mutations compared to mt-tRNA mutations Journal of Molecular Evolution . 86 (6): 395-403 . |
| 36 | 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 . |
| 37 | 30128709 | 2018 | Wei, Y., Cui, L., Peng, B. (2018) Mitochondrial DNA mutations in late-onset Leigh syndrome Journal of Neurology . 265 (10): 2388-2395 . |
| 38 | 29408632 | 2019 | Brady, L., Sadikovic, B., Rupar, C. A., Tarnopolsky, M. A. (2019) Complete elimination of a pathogenic homoplasmic mtDNA mutation in one generation Mitochondrion . 45 (): 18-21 . |
| 39 | 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 . |
| 40 | 31221418 | 2019 | Mahoui, S., Belkhamsa, O., Ait Kaci, I., Abada Bendib, M., Castelnovo, G. (2019) Leber optic hereditary neuropathy plus dystonia Revue Neurologique (Paris) . 175 (7-8): 483-484 . |
| 41 | 32045392 | 2020 | Cui, S., Yang, L., Jiang, H., Peng, J., Shang, J., Wang, J., Zhang, X. (2020) Clinical features of Chinese sporadic Leber hereditary optic neuropathy caused by rare primary mtDNA mutations Journal of Neuro-Ophthalmology . 40 (1): 30-36 . |
| 42 | 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 . |
| 43 | 20301353 | 2021 | Yu-Wai-Man, P., Chinnery, P. F. (2021) Leber hereditary optic neuropathy [updated 2021 Mar 11] GeneReviews® M. P. Adam, H. H. Ardinger, R. A. Pagon, S. E. Wallace, L. J. H. Bean, G. Mirza, A. Amemiya (): https://www.ncbi.nlm.nih.gov/books/NBK1174/ . |
| 44 | 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 . |
| 45 | 37038312 | 2023 | Ardissone, A., Ferrera, G., Lamperti, C., Tiranti, V., Ghezzi, D., Moroni, I., Lamantea, E. (2023) Phenotyping mitochondrial DNA-related diseases in childhood: A cohort study of 150 patients European Journal of Neurology . 30 (7): 2079-2091 . |