MITOMAP References for Variant G-A at 3460

Download PMID list

PMID Reference
17003408 Abu-Amero, K. K., Bosley, T. M. (2006) Mitochondrial abnormalities in patients with LHON-like optic neuropathies Investigative Ophthalmology and Visual Science . 47 (10): 4211-4220 .
14750573 Acaroglu, G., Kansu, T., Dogulu, C. F. (2001) Visual recovery patterns in children with Leber's hereditary optic neuropathy International Ophthalmology . 24 (6): 349-355 .
18402672 Alvarez-Iglesias, V., Barros, F., Carracedo, A., Salas, A. (2008) Minisequencing mitochondrial DNA pathogenic mutations [METHODS] BMC Medical Genetics . 9 (-): 26 .
33159657 Amore, G., Romagnoli, M., Carbonelli, M., Barboni, P., Carelli, V., La Morgia, C. (2021) Therapeutic options in hereditary optic neuropathies Drugs . 81 (1): 57-86 .
32105823 Bahr, T., Welburn, K., Donnelly, J., Bai, Y. (2020) Emerging model systems and treatment approaches for Leber's hereditary optic neuropathy: Challenges and opportunities Biochimica et Biophysica Acta. Molecular Basis of Disease . 1866 (6): 165743 .
23847141 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 .
15883259 Baracca, A., Solaini, G., Sgarbi, G., Lenaz, G., Baruzzi, A., Schapira, A. H., Martinuzzi, A., Carelli, V. (2005) Severe impairment of complex I-driven adenosine triphosphate synthesis in Leber hereditary optic neuropathy cybrids Archives of Neurology . 62 (5): 730-736 .
15629831 Barboni, P., Savini, G., Valentino, M. L., Montagna, P., Cortelli, P., De Negri, A. M., Sadun, F., Bianchi, S., Longanesi, L., Zanini, M., de Vivo, A., Carelli, V. (2005) Retinal nerve fiber layer evaluation by optical coherence tomography in Leber's hereditary optic neuropathy Ophthalmology . 112 (1): 120-126 .
17122117 Barboni, P., Savini, G., Valentino, M. L., La Morgia, C., Bellusci, C., De Negri, A. M., Sadun, F., Carta, A., Carbonelli, M., Sadun, A. A., Carelli, V. (2006) Leber's hereditary optic neuropathy with childhood onset Investigative Ophthalmology and Visual Science . 47 (12): 5303-5309 .
15342361 Beretta, S., Mattavelli, L., Sala, G., Tremolizzo, L., Schapira, A. H., Martinuzzi, A., Carelli, V., Ferrarese, C. (2004) Leber hereditary optic neuropathy mtDNA mutations disrupt glutamate transport in cybrid cell lines Brain . 127 (Pt 10): 2183-2192 .
20599858 Bi, R., Zhang, A. M., Yu, D., Chen, D., Yao, Y. G. (2010) Screening the three LHON primary mutations in the general Chinese population by using an optimized multiplex allele-specific PCR Clinica Chimica Acta . 411 (21-22): 1671-1674 .
27787713 Bi, R., Logan, I., Yao, Y. G. (2017) Leber hereditary optic neuropathy: a mitochondrial disease unique in many ways Handbook of Experimental Pharmacology . 240 (): 309-336 .
30572950 Bianco, A., Valletti, A., Longo, G., Bisceglia, L., Montoya, J., Emperador, S., Guerriero, S., Petruzzella, V. (2018) Mitochondrial DNA copy number in affected and unaffected LHON mutation carriers BMC Research Notes . 11 (1): 911; data tables at https://figshare.com/articles/Data_Set_1_xlsx/7093559, https://figshare.com/articles/Data_Set_2_xlsx/7093619, and https://figshare.com/articles/Data_Set_3_xlsx/7093643 .
30053855 Bianco, A., Bisceglia, L., De Caro, M. F., Galeandro, V., De Bonis, P., Tullo, A., Zoccolella, S., Guerriero, S., Petruzzella, V. (2018) Leber's hereditary optic neuropathy, intellectual disability and epilepsy presenting with variable penetrance associated to the m.3460G >A mutation and a heteroplasmic expansion of the microsatellite in MTRNR1 gene - case report BMC Medical Genetics . 19 (1): 129 .
NA 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 .
21067478 Bosley, T. M., Abu-Amero, K. K. (2010) Assessing mitochondrial DNA nucleotide changes in spontaneous optic neuropathies Ophthalmic Genetics . 31 (4): 163-172 .
33584522 Botelho, G. I. S., Salomao, S. R., Tengan, C. H., Karanjia, R., Moura, F. V., Rocha, D. M., da Silva, P. B. E., Fernandes, A. G., Watanabe, S. E. S., Sacai, P. Y., Belfort, R., Jr., Carelli, V., Sadun, A. A., Berezovsky, A. (2020) Impaired ganglion cell function objectively assessed by the photopic negative response in affected and asymptomatic members from Brazilian families with Leber's hereditary optic neuropathy Frontiers in Neurology . 11 (): 628014 .
1732158 Brown, M.D., Voljavec, A.S., Lott, M.T., Torroni, A., Yang, C.-C., Wallace, D.C. (1992) Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy Genetics . 130 (1): 163-173 .
10426138 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 .
10976107 Brown, M.D., Trounce, I.A., Jun, A.S., Allen, J.C., Wallace, D.C. (2000) Functional analysis of lymphoblast and cybrid mitochondria containing the 3460, 11778, or 14484 Leber's hereditary optic neuropathy mtDNA mutation Journal of Biological Chemistry . 275 (51): 39831-39836 .
9012411 Brown, M.D., Sun, F., Wallace, D.C. (1997) Clustering of Caucasian Leber hereditary optic neuropathy patients containing the 11778 or 14484 mutations on an mtDNA lineage American Journal of Human Genetics . 60 (2): 381-387 .
8680405 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 .
20123042 Cao, Y., Ma, Y., Zhang, Y., Li, Y., Fang, F., Wang, S., Bu, D., Xu, Y., Pei, P., Li, L., Xiao, Y., Wu, H., Yang, Y., Zou, L., Qi, Y. (2010) Detection of eight frequently encountered point mutations in mitochondria in Chinese patients suggestive of mitochondrial encephalomyopathies Mitochondrion . 10 (4): 330-334 .
29444077 Caporali, L., Iommarini, L., La Morgia, C., Olivieri, A., Achilli, A., Maresca, A., Valentino, M. L., Capristo, M., Tagliavini, F., Del Dotto, V., Zanna, C., Liguori, R., Barboni, P., Carbonelli, M., Cocetta, V., Montopoli, M., Martinuzzi, A., Cenacchi, G., De Michele, G., Testa, F., Nesti, A., Simonelli, F., Porcelli, A. M., Torroni, A., Carelli, V. (2018) Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber's hereditary optic neuropathy PLoS Genetics . 14 (2): e1007210 .
28716668 Caporali, L., Maresca, A., Capristo, M., Del Dotto, V., Tagliavini, F., Valentino, M. L., La Morgia, C., Carelli, V. (2017) Incomplete penetrance in mitochondrial optic neuropathies Mitochondrion . 36 (): 130-137 .
8941270 Melberg, A., Arnell, H., Dahl, N., Stalberg, E., Raininko, R., Oldfors, A., Bakall, B., Lundberg, P. O., Holme, E. (1996) Anticipation of autosomal dominant progressive external ophthalmoplegia with hypogonadism Muscle and Nerve . 19 (12): 1561-1569 .
15282189 Carelli, V., Rugolo, M., Sgarbi, G., Ghelli, A., Zanna, C., Baracca, A., Lenaz, G., Napoli, E., Martinuzzi, A., Solaini, G. (2004) Bioenergetics shapes cellular death pathways in Leber's hereditary optic neuropathy: a model of mitochondrial neurodegeneration Biochimica et Biophysica Acta . 1658 (40545): 172-179 .
16532388 Carelli, V., Achilli, A., Valentino, M. L., Rengo, C., Semino, O., Pala, M., Olivieri, A., Mattiazzi, M., Pallotti, F., Carrara, F., Zeviani, M., Leuzzi, V., Carducci, C., Valle, G., Simionati, B., Mendieta, L., Salomao, S., Belfort, R., Sadun, A. A., Torroni, A. (2006) Haplogroup effects and recombination of mitochondrial DNA: novel clues from the analysis of Leber hereditary optic neuropathy pedigrees American Journal of Human Genetics . 78 (4): 564-574 .
17479363 Carelli, V., La Morgia, C., Iommarini, L., Carroccia, R., Mattiazzi, M., Sangiorgi, S., Farne, S., Maresca, A., Foscarini, B., Lanzi, L., Amadori, M., Bellan, M., Valentino, M. L. (2007) Mitochondrial optic neuropathies: how two genomes may kill the same cell type? Bioscience Reports . 27 (40546): 173-184 .
19268652 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 .
21810891 Carelli, V., La Morgia, C., Valentino, M. L., Rizzo, G., Carbonelli, M., De Negri, A. M., Sadun, F., Carta, A., Guerriero, S., Simonelli, F., Sadun, A. A., Aggarwal, D., Liguori, R., Avoni, P., Baruzzi, A., Zeviani, M., Montagna, P., Barboni, P. (2011) Idebenone treatment In Leber's hereditary optic neuropathy Brain . 134 (9): e188 .
12711217 Carelli, V., Giordano, C., d'Amati, G. (2003) Pathogenic expression of homoplasmic mtDNA mutations needs a complex nuclear-mitochondrial interaction Trends in Genetics . 19 (5): 257-262 .
28991104 Carelli, V., Carbonelli, M., de Coo, I. F., Kawasaki, A., Klopstock, T., Lagreze, W. A., La Morgia, C., Newman, N. J., Orssaud, C., Pott, J. W. R., Sadun, A. A., van Everdingen, J., Vignal-Clermont, C., Votruba, M., Yu-Wai-Man, P., Barboni, P. (2017) International consensus statement on the clinical and therapeutic management of Leber hereditary optic neuropathy Journal of Neuro-Ophthalmology . 37 (4): 371-381 .
16120372 Carrara, F., Chinnery, P. F., Man, P. Y. W., Zeviani, M., Tiranti, V. (2004) Pitfalls in restriction fragment length polymorphism analysis of Leber's hereditary optic neuropathy patients Mitochondrion . 4 (1): 37-39 .
32991388 Catarino, C. B., von Livonius, B., Priglinger, C., Banik, R., Matloob, S., Tamhankar, M. A., Castillo, L., Friedburg, C., Halfpenny, C. A., Lincoln, J. A., Traber, G. L., Acaroglu, G., Black, G. C. M., Doncel, C., Fraser, C. L., Jakubaszko, J., Landau, K., Langenegger, S. J., Munoz-Negrete, F. J., Newman, N. J., Poulton, J., Scoppettuolo, E., Subramanian, P., Toosy, A. T., Vidal, M., Vincent, A. L., Votruba, M., Zarowski, M., Zermansky, A., Lob, F., Rudolph, G., Mikazans, O., Silva, M., Lloria, X., Metz, G., Klopstock, T. (2020) Real-world clinical experience with idebenone in the treatment of Leber hereditary optic neuropathy Journal of Neuro-Ophthalmology . 40 (4): 558-565 .
8659512 Chalmers, R.M., Davis, M.B., Sweeney, M.G., Wood, N.W., Harding, A.E. (1996) Evidence against an X-linked visual loss susceptibility locus in Leber hereditary optic neuropathy American Journal of Human Genetics . 59 (1): 103-108 .
8931573 Charlmers, R. M., Harding, A. E. (1996) A case-control study of Leber's hereditary optic neuropathy Brain . 119 (Pt 5): 1481-1486 .
29587845 Chin, R. M., Panavas, T., Brown, J. M., Johnson, K. K. (2018) Patient-derived lymphoblastoid cell lines harboring mitochondrial DNA mutations as tool for small molecule drug discovery BMC Research Notes . 11 (1): 205 .
10939569 Chinnery, P. F., Johnson, M. A., Wardell, T. M., Singh-Kler, R., Hayes, C., Brown, D. T., Taylor, R. W., Bindoff, L. A., Turnbull, D. M. (2000) The epidemiology of pathogenic mitochondrial DNA mutations Annals of Neurology . 48 (2): 188-193 .
30369864 Chinnery, P. F., Gomez-Duran, A. (2018) Oldies but goldies mtDNA population variants and neurodegenerative diseases Frontiers in Neuroscience . 12 (): 682 .
11074292 Chinnery, P. F., Thorburn, D. R., Samuels, D. C., White, S. L., Dahl, H. M., Turnbull, D. M., Lightowlers, R. N., Howell, N. (2000) The inheritance of mitochondrial DNA heteroplasmy: random drift, selection or both? Trends in Genetics . 16 (11): 500-505 .
10426140 Cock, H.R., Cooper, J.M., Schapira, A.H. (1999) Functional consequences of the 3460-bp mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy Journal of the Neurological Sciences . 165 (1): 10-17 .
31040363 Coussa, R. G., Merat, P., Levin, L. A. (2019) Propagation and selectivity of axonal loss in Leber hereditary optic neuropathy Scientific Reports . 9 (1): 6720 .
25909222 Cruz-Bermudez, A., Vallejo, C. G., Vicente-Blanco, R. J., Gallardo, M. E., Fernandez-Moreno, M. A., Quintanilla, M., Garesse, R. (2015) Enhanced tumorigenicity by mitochondrial DNA mild mutations Oncotarget . 6 (15): 13628-13643 .
29387390 Dai, Y., Wang, C., Nie, Z., Han, J., Chen, T., Zhao, X., Ai, C., Ji, Y., Gao, T., Jiang, P. (2018) Mutation analysis of Leber's hereditary optic neuropathy using a multi-gene panel Biomedical Reports . 8 (1): 51-58 .
15728653 Danielson, S. R., Carelli, V., Tan, G., Martinuzzi, A., Schapira, A. H., Savontaus, M. L., Cortopassi, G. A. (2005) Isolation of transcriptomal changes attributable to LHON mutations and the cybridization process Brain . 128 (Pt 5): 1026-1037 .
32887465 Dawod, P. G. A., Jancic, J., Marjanovic, A., Brankovic, M., Jankovic, M., Samardzic, J., Potkonjak, D., Djuric, V., Mesaros, S., Novakovic, I., Abdel Motaleb, F. I., Kostic, V. S., Nikolic, D. (2020) Whole mitochondrial genome analysis in Serbian cases of Leber's hereditary optic neuropathy Genes (Basel) . 11 (9): 1037 .
25338955 Dimitriadis, K., Leonhardt, M., Yu-Wai-Man, P., Kirkman, M. A., Korsten, A., De Coo, I. F., Chinnery, P. F., Klopstock, T. (2014) Leber's hereditary optic neuropathy with late disease onset: clinical and molecular characteristics of 20 patients Orphanet Journal of Rare Diseases . 9 (): 158 .
33552719 Ding, Y., Zhuo, G., Guo, Q., Li, M. (2021) Leber's hereditary optic neuropathy: the roles of mitochondrial transfer RNA variants PeerJ . 9 (): e10651 .
19370763 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 .
11339587 Dogulu, C. F., Kansu, T., Seyrantepe, V., Ozguc, M., Topaloglu, H., Johns, D. R. (2001) Mitochondrial DNA analysis in the Turkish Leber's hereditary optic neuropathy population Eye (London) . 15 (Pt 2): 183-188 .
21694444 Du, W. D., Chen, G., Cao, H. M., Jin, Q. H., Liao, R. F., He, X. C., Chen, D. B., Huang, S. R., Zhao, H., Lv, Y. M., Tang, H. Y., Tang, X. F., Wang, Y. Q., Sun, S., Zhao, J. L., Zhang, X. J. (2011) A simple oligonucleotide biochip capable of rapidly detecting known mitochondrial DNA mutations in Chinese patients with Leber's hereditary optic neuropathy (LHON) Disease Markers . 30 (4): 181-190 .
18214789 Eichhorn-Mulligan, K., Cestari, D. M. (2008) The genetics of leber hereditary optic neuropathy--prototype of an inherited optic neuropathy with mitochondrial dysfunction Seminars in Ophthalmology . 23 (1): 27-37 .
18674747 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 .
26605371 Eustace Ryan, S., Ryan, F., Barton, D., O'Dwyer, V., Neylan, D. (2015) Development and validation of a novel PCR-RFLP based method for the detection of 3 primary mitochondrial mutations in Leber's hereditary optic neuropathy patients Eye and Vision (London, England) . 2 (): 18 .
19319978 Ferre, M., Bonneau, D., Milea, D., Chevrollier, A., Verny, C., Dollfus, H., Ayuso, C., Defoort, S., Vignal, C., Zanlonghi, X., Charlin, J. F., Kaplan, J., Odent, S., Hamel, C. P., Procaccio, V., Reynier, P., Amati-Bonneau, P. (2009) Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations Human Mutation . 30 (7): E692-705 .
11329546 Finsterer, J., Stollberger, C., Kopsa, W., Jaksch, M. (2001) Wolff-Parkinson-White syndrome and isolated left ventricular abnormal trabeculation as a manifestation of Leber's hereditary optic neuropathy Canadian Journal of Cardiology . 17 (4): 464-466 .
15720387 Floreani, M., Napoli, E., Martinuzzi, A., Pantano, G., De Riva, V., Trevisan, R., Bisetto, E., Valente, L., Carelli, V., Dabbeni-Sala, F. (2005) Antioxidant defences in cybrids harboring mtDNA mutations associated with Leber's hereditary optic neuropathy The FEBS Journal . 272 (5): 1124-1135 .
32504279 Formichi, P., Cardone, N., Taglia, I., Cardaioli, E., Salvatore, S., Gerfo, A. L., Simoncini, C., Montano, V., Siciliano, G., Mancuso, M., Malandrini, A., Federico, A., Dotti, M. T. (2020) Fibroblast growth factor 21 and grow differentiation factor 15 are sensitive biomarkers of mitochondrial diseases due to mitochondrial transfer-RNA mutations and mitochondrial DNA deletions Neurological Sciences . 41 (12): 3653-3662 .
20471050 Fraser, J. A., Biousse, V., Newman, N. J. (2010) The neuro-ophthalmology of mitochondrial disease Survey of Ophthalmology . 55 (4): 299-334 .
12205655 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 .
33477675 Garcia-Lopez, M., Arenas, J., Gallardo, M. E. (2021) Hereditary optic neuropathies: induced pluripotent stem cell-based 2D/3D approaches Genes (Basel) . 12 (1): 112 .
17652639 Genasetti, A., Valentino, M. L., Carelli, V., Vigetti, D., Viola, M., Karousou, E. G., Melzi d'Eril, G. V., De Luca, G., Passi, A., Pallotti, F. (2007) Assessing heteroplasmic load in Leber's hereditary optic neuropathy mutation 3460G->A/MT-ND1 with a real-time PCR quantitative approach Journal of Molecular Diagnostics . 9 (4): 538-545 .
12446713 Ghelli, A., Zanna, C., Porcelli, A. M., Schapira, A. H., Martinuzzi, A., Carelli, V., Rugolo, M. (2003) Leber's hereditary optic neuropathy (LHON) pathogenic mutations induce mitochondrial-dependent apoptotic death in transmitochondrial cells incubated with galactose medium Journal of Biological Chemistry . 278 (6): 4145-4150 .
18235013 Ghelli, A., Porcelli, A. M., Zanna, C., Martinuzzi, A., Carelli, V., Rugolo, M. (2008) Protection against oxidant-induced apoptosis by exogenous glutathione in Leber hereditary optic neuropathy cybrids Investigative Ophthalmology and Visual Science . 49 (2): 671-676 .
8571959 Ghosh, S.S., Fahy, E., Bodis-Wollner, I., Sherman, J., Howell, N. (1996) Longitudinal study of a heteroplasmic 3460 Leber hereditary optic neuropathy family by multiplexed primer-extension analysis and nucleotide sequencing American Journal of Human Genetics . 58 (2): 325-334 .
20943885 Giordano, C., Montopoli, M., Perli, E., Orlandi, M., Fantin, M., Ross-Cisneros, F. N., Caparrotta, L., Martinuzzi, A., Ragazzi, E., Ghelli, A., Sadun, A. A., d'Amati, G., Carelli, V. (2011) Oestrogens ameliorate mitochondrial dysfunction in Leber's hereditary optic neuropathy Brain . 134 (Pt 1): 220-234 .
24369379 Giordano, C., Iommarini, L., Giordano, L., Maresca, A., Pisano, A., Valentino, M. L., Caporali, L., Liguori, R., Deceglie, S., Roberti, M., Fanelli, F., Fracasso, F., Ross-Cisneros, F. N., D'Adamo, P., Hudson, G., Pyle, A., Yu-Wai-Man, P., Chinnery, P. F., Zeviani, M., Salomao, S. R., Berezovsky, A., Belfort, R., Jr., Ventura, D. F., Moraes, M., Moraes Filho, M., Barboni, P., Sadun, F., De Negri, A., Sadun, A. A., Tancredi, A., Mancini, M., d'Amati, G., Loguercio Polosa, P., Cantatore, P., Carelli, V. (2014) Efficient mitochondrial biogenesis drives incomplete penetrance in Leber's hereditary optic neuropathy Brain . 137 (Pt 2): 335-353 .
7853025 Govan, G.G., Smith, P.R., Kellar-Wood, H., Schapira, A.H., Harding, A.E. (1994) HLA class II genotypes in Leber's hereditary optic neuropathy Journal of the Neurological Sciences . 126 (2): 193-196 .
25192510 Haas, R. H., Zolkipli, Z. (2014) Mitochondrial disorders affecting the nervous system Seminars in Neurology . 32 (3): 321-340 .
34122299 Hage, R., Vignal-Clermont, C. (2021) Leber hereditary optic neuropathy: review of treatment and management Frontiers in Neurology . 12 (): 651639 .
32219779 Handzic, A., Pless, M. L. (2020) The slowly progressive, bilaterally simultaneous variety of Leber hereditary optic neuropathy Klinische Monatsblatter fur Augenheilkunde . 237 (4): 519-520 .
7770132 Hanefeld, F.A., Ernst, B.P., Wilichowski, E., Christen, H.J. (1994) Leber's hereditary optic neuropathy mitochondrial DNA mutations in childhood multiple sclerosis Neuropediatrics . 25 (6): 331 .
7611298 Harding, A.E., Sweeney, M.G., Govan, G.G., Riordan-Eva, P. (1995) Pedigree analysis in Leber hereditary optic neuropathy families with a pathogenic mtDNA mutation American Journal of Human Genetics . 57 (1): 77-86 .
16738010 Hinttala, R., Smeets, R., Moilanen, J. S., Ugalde, C., Uusimaa, J., Smeitink, J. A., Majamaa, K. (2006) Analysis of mitochondrial DNA sequences in children with isolated or combined oxidative phosphorylation system deficiency Journal of Medical Genetics . 43 (11): 881-886 .
29980632 Hirano, M., Emmanuele, V., Quinzii, C. M. (2018) Emerging therapies for mitochondrial diseases Essays in Biochemistry . 62 (3): 467-481 .
9302261 Hofmann, S., Jaksch, M., Bezold, R., Mertens, S., Aholt, S., Paprotta, A., Gerbitz, K.D. (1997) Population genetics and disease susceptibility: characterization of central European haplogroups by mtDNA gene mutations, correlation with D loop variants and association with disease Human Molecular Genetics . 6 (11): 1835-1846 .
14671420 Houshmand, M., Sanati, M. H., Rashedi, I., Sharifpanah, F., Asghari, E., Lotfi, J. (2004) Lack of association between Leber's hereditary optic neuropathy primary point mutations and multiple sclerosis in Iran European Neurology . 51 (2): 68-71 .
15126312 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 .
7635294 Howell, N., Kubacka, I., Halvorson, S., Howell, B., McCullough, D. A., Mackey, D. (1995) Phylogenetic analysis of the mitochondrial genomes from Leber hereditary optic neuropathy pedigrees Genetics . 140 (1): 285-302 .
1928099 Howell, N., Bindoff, L. A., McCullough, D. A., Kubacka, I., Poulton, J., Mackey, D., Taylor, L., Turnbull, D. M. (1991) Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees American Journal of Human Genetics . 49 (5): 939-950 .
1734726 Howell, N., McCullough, D., Bodis-Wollner, I. (1992) Molecular genetic analysis of a sporadic case of Leber hereditary optic neuropathy American Journal of Human Genetics . 50 (2): 443-446 .
16380918 Hudson, G., Keers, S., Yu Wai Man, P., Griffiths, P., Huoponen, K., Savontaus, M. L., Nikoskelainen, E., Zeviani, M., Carrara, F., Horvath, R., Karcagi, V., Spruijt, L., de Coo, I. F., Smeets, H. J., Chinnery, P. F. (2005) Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorder American Journal of Human Genetics . 77 (6): 1086-1091
21397051 Hudson, G., Yu-Wai-Man, P., Griffiths, P. G., Horvath, R., Carelli, V., Zeviani, M., Chinnery, P. F. (2011) Variation in MAPT is not a contributing factor to the incomplete penetrance in LHON Mitochondrion . 11 (4): 620-622 .
1674640 Huoponen, K., Vilkki, J., Aula, P., Nikoskelainen, E.K., Savontaus, M.L. (1991) A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy American Journal of Human Genetics . 48 (6): 1147-1153 .
7901141 Huoponen, K., Lamminen, T., Juvonen, V., Aula, P., Nikoskelainen, E., Savontaus, J.L. (1993) The spectrum of mitochondrial DNA mutations in families with Leber hereditary optic neuroretinopathy Human Genetics . 92 (4): 379-384 .
11523562 Huoponen, K. (2001) Leber hereditary optic neuropathy: clinical and molecular genetic findings Neurogenetics . 3 (3): 119-125 .
11906302 Huoponen, K., Puomila, A., Savontaus, M. L., Mustonen, E., Kronqvist, E., Nikoskelainen, E. (2002) Genetic counseling in Leber hereditary optic neuropathy (LHON) Acta Ophthalmologica Scandinavica . 80 (1): 38-43 .
7924787 Jackson, M.J., Bindoff, L.A., Weber, K., Wilson, J.N., Ince, P., Alberti, K.G., Turnbull, D.M. (1994) Biochemical and molecular studies of mitochondrial function in diabetes insipidus, diabetes mellitus, optic atrophy, and deafness Diabetes Care . 17 (7): 728-733 .
27847334 Jankauskaite, E., Bartnik, E., Kodron, A. (2017) Investigating Leber's hereditary optic neuropathy: Cell models and future perspectives Mitochondrion . 32 (): 19-26 .
17942074 Ji, Y., Jia, X., Zhang, Q., Yao, Y. G. (2007) mtDNA haplogroup distribution in Chinese patients with Leber's hereditary optic neuropathy and G11778A mutation Biochemical and Biophysical Research Communications . 364 (2): 238-242 .
27177320 Ji, Y., Liang, M., Zhang, J., Zhu, L., Zhang, Z., Fu, R., Liu, X., Zhang, M., Fu, Q., Zhao, F., Tong, Y., Sun, Y., Jiang, P., Guan, M. X. (2016) Mitochondrial ND1 Variants in 1281 Chinese Subjects With Leber's hereditary optic neuropathy Investigative Ophthalmology and Visual Science . 57 (6): 2377-2789 .
16972023 Jia, X., Li, S., Xiao, X., Guo, X., Zhang, Q. (2006) Molecular epidemiology of mtDNA mutations in 903 Chinese families suspected with Leber hereditary optic neuropathy Journal of Human Genetics . 51 (10): 851-856 .
1550131 Johns, D. R. (1992) Mitochondrial ND-1 mutation in Leber hereditary optic neuropathy American Journal of Human Genetics . 50 (4): 872-874 .
1444915 Johns, D. R., Smith, K. H., Miller, N. R. (1992) Leber's hereditary optic neuropathy. Clinical manifestations of the 3460 mutation Archives of Ophthalmology . 110 (11): 1577-1581 .
8213820 Johns, D. R., Neufeld, M. (1993) Pitfalls in the molecular genetic diagnosis of Leber hereditary optic neuropathy (LHON) American Journal of Human Genetics . 53 (4): 916-20 .
8270249 Juvonen, V., Huoponen, K., Syvanen, A.C., Nikoskelainen, E., Savontaus, M.L. (1994) Quantification of point mutations associated with Leber hereditary optic neuroretinopathy by solid-phase minisequencing Human Genetics . 93 (1): 16-20 .
8024249 Kellar-Wood, H., Robertson, N., Govan, G.G., Compston, D.A., Harding, A.E. (1994) Leber's hereditary optic neuropathy mitochondrial DNA mutations in multiple sclerosis Annals of Neurology . 36 (1): 109-112 .
11124301 Kerrison, J. B., Miller, N. R., Hsu, F., Beaty, T. H., Maumenee, I. H., Smith, K. H., Savino, P. J., Stone, E. M., Newman, N. J. (2000) A case-control study of tobacco and alcohol consumption in Leber hereditary optic neuropathy American Journal of Ophthalmology . 130 (6): 803-812 .
19525327 Kirkman, M. A., Yu-Wai-Man, P., Korsten, A., Leonhardt, M., Dimitriadis, K., De Coo, I. F., Klopstock, T., Chinnery, P. F. (2009) Gene-environment interactions in Leber hereditary optic neuropathy Brain . 132 (Pt 9): 2317-2326 .
19255150 Kirkman, M. A., Korsten, A., Leonhardt, M., Dimitriadis, K., De Coo, I. F., Klopstock, T., Griffiths, P. G., Hudson, G., Chinnery, P. F., Yu-Wai-Man, P. (2009) Quality of life in patients with Leber hereditary optic neuropathy Investigative Ophthalmology and Visual Science . 50 (7): 3112-315 .
21788663 Klopstock, T., Yu-Wai-Man, P., Dimitriadis, K., Rouleau, J., Heck, S., Bailie, M., Atawan, A., Chattopadhyay, S., Schubert, M., Garip, A., Kernt, M., Petraki, D., Rummey, C., Leinonen, M., Metz, G., Griffiths, P. G., Meier, T., Chinnery, P. F. (2011) A randomized placebo-controlled trial of idebenone in Leber's hereditary optic neuropathy Brain . 134 (9): 2677-2686 .
31584786 Kodron, A., Hajieva, P., Kulicka, A., Paterczyk, B., Jankauskaite, E., Bartnik, E. (2019) Analysis of BNIP3 and BNIP3L/Nix expression in cybrid cell lines harboring two LHON-associated mutations Acta Biochimica Polonica . 66 (4): 427-435 .
30081212 Kogachi, K., Ter-Zakarian, A., Asanad, S., Sadun, A., Karanjia, R. (2019) Toxic medications in Leber's hereditary optic neuropathy Mitochondrion 46 (): 270-277 .
21253496 Koilkonda, R. D., Guy, J. (2011) Leber's hereditary optic neuropathy - gene therapy: from benchtop to bedside Journal of Ophthalmology . 2011 (-): 179412 .
20454697 Kumar, M., Tanwar, M., Saxena, R., Sharma, P., Dada, R. (2010) Identification of novel mitochondrial mutations in Leber's hereditary optic neuropathy Molecular Vision . 16 (-): 782-792 .
18216301 La Morgia, C., Achilli, A., Iommarini, L., Barboni, P., Pala, M., Olivieri, A., Zanna, C., Vidoni, S., Tonon, C., Lodi, R., Vetrugno, R., Mostacci, B., Liguori, R., Carroccia, R., Montagna, P., Rugolo, M., Torroni, A., Carelli, V. (2008) Rare mtDNA variants in Leber hereditary optic neuropathy families with recurrence of myoclonus Neurology . 70 (10): 762-770 .
9412783 Lamminen, T., Huoponen, K., Sistonen, P., Juvonen, V., Lahermo, P., Aula, P., Nikoskelainen, E., Savontaus, M.L. (1997) mtDNA haplotype analysis in Finnish families with Leber Hereditary Optic Neuroretinopathy European Journal of Human Genetics . 5 (5): 271-279 .
15282179 Lenaz, G., Baracca, A., Carelli, V., D'Aurelio, M., Sgarbi, G., Solaini, G. (2004) Bioenergetics of mitochondrial diseases associated with mtDNA mutations Biochimica et Biophysica Acta . 1658 (1-2): 89-94 .
26404827 Lightowlers, R. N., Taylor, R. W., Turnbull, D. M. (2015) Mutations causing mitochondrial disease: What is new and what challenges remain? Science . 349 (6255): 1494-1499 .
12023431 Lodi, R., Carelli, V., Cortelli, P., Iotti, S., Valentino, M. L., Barboni, P., Pallotti, F., Montagna, P., Barbiroli, B. (2002) Phosphorus MR spectroscopy shows a tissue specific in vivo distribution of biochemical expression of the G3460A mutation in Leber's hereditary optic neuropathy Journal of Neurology, Neurosurgery and Psychiatry . 72 (6): 805-807 .
29991444 Lopez-Gallardo, E., Emperador, S., Hernandez-Ainsa, C., Montoya, J., Bayona-Bafaluy, M. P., Ruiz-Pesini, E. (2018) Food derived respiratory complex I inhibitors modify the effect of Leber hereditary optic neuropathy mutations Food and Chemical Toxicology . 120 (): 89-97 .
27071925 Lyseng-Williamson, K. A. (2016) Idebenone: a review in Leber's hereditary optic neuropathy Drugs . 76 (7): 805-813 .
7821467 Mackey, D.A. (1994) Three subgroups of patients from the United Kingdom with Leber hereditary optic neuropathy Eye . 8 (Pt 4): 431-436 .
8755941 Mackey, D. A., Oostra, R. J., Rosenberg, T., Nikoskelainen, E., Bronte-Stewart, J., Poulton, J., Harding, A. E., Govan, G., Bolhuis, P. A., Norby, S. (1996) Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy American Journal of Human Genetics . 59 (2): 481-485 .
28314831 Majander, A., Bowman, R., Poulton, J., Antcliff, R. J., Reddy, M. A., Michaelides, M., Webster, A. R., Chinnery, P. F., Votruba, M., Moore, A. T., Yu-Wai-Man, P. (2017) Childhood-onset Leber hereditary optic neuropathy British Journal of Ophthalmology . 101 (11): 1505-1509 .
1959619 Majander, A., Huoponen, K., Savontaus, M.L., Nikoskelainen, E., Wikstrom, M. (1991) Electron transfer properties of NADH:ubiquinone reductase in the ND1/3460 and the ND4/11778 mutations of the Leber hereditary optic neuroretinopathy (LHON) FEBS Letters . 292 (40545): 289-292 .
15060117 Man, P. Y., Howell, N., Mackey, D. A., Norby, S., Rosenberg, T., Turnbull, D. M., Chinnery, P. F. (2004) Mitochondrial DNA haplogroup distribution within Leber hereditary optic neuropathy pedigrees Journal of Medical Genetics . 41 (4): e41 .
29426449 Manfready, R. A., Hedges, T. R., 3rd, Mendoza-Santiesteban, C. E. (2018) Structural and functional degeneration of retinal nerves in sibling carriers of a Leber's hereditary optic neuropathy mutation Canadian Journal of Ophthalmology . 53 (1): e1-e4 .
20628600 Marella, M., Seo, B. B., Thomas, B. B., Matsuno-Yagi, A., Yagi, T. (2010) Successful amelioration of mitochondrial optic neuropathy using the yeast NDI1 gene in a rat animal model PLoS One . 5 (7): e11472 .
14748908 Marotta, R., Chin, J., Quigley, A., Katsabanis, S., Kapsa, R., Byrne, E., Collins, S. (2004) Diagnostic screening of mitochondrial DNA mutations in Australian adults 1990-2001 Internal Medicine Journal . 34 (40545): 10-19 .
11001192 Mashima, Y., Kigasawa, K., Wakakura, M., Oguchi, Y. (2000) Do idebenone and vitamin therapy shorten the time to achieve visual recovery in Leber hereditary optic neuropathy? Journal of Neuro-ophthalmology . 20 (3): 166-170 .
9852675 Matsumoto, M., Hayasaka, S., Hotta, Y., Fujiki, K., Fujimaki, T., Takeda, M., Ishida, N., Endo, S., Kanai, A. (1998) Mitochondrial DNA mutations in Japanese patients with optic neuropathy unassociated with a mutation at nucleotide position 11,778 Journal of Human Genetics . 43 (4): 242-245 .
10520236 Matsumoto, M., Hayasaka, S., Kadoi, C., Hotta, Y., Fujiki, K., Fujimaki, T., Takeda, M., Ishida, N., Endo, S., Kanai, A. (1999) Secondary mutations of mitochondrial DNA in Japanese patients with Leber's hereditary optic neuropathy Ophthalmic Genetics . 20 (3): 153-160 .
25053773 Matthews, L., Enzinger, C., Fazekas, F., Rovira, A., Ciccarelli, O., Dotti, M. T., Filippi, M., Frederiksen, J. L., Giorgio, A., Kuker, W., Lukas, C., Rocca, M. A., De Stefano, N., Toosy, A., Yousry, T., Palace, J., on behalf of the Magnims network (2015) MRI in Leber's hereditary optic neuropathy: the relationship to multiple sclerosis Journal of Neurology, Neurosurgery and Psychiatry . 86 (5): 537-542 .
30591017 Mauri, E., Dilena, R., Boccazzi, A., Ronchi, D., Piga, D., Triulzi, F., Gagliardi, D., Brusa, R., Faravelli, I., Bresolin, N., Magri, F., Corti, S., Comi, G. P. (2018) Subclinical Leber's hereditary optic neuropathy with pediatric acute spinal cord onset: more than meets the eye BMC Neurology . 18 (1): 220 .
8556281 Meire, F. M., Van Coster, R., Cochaux, P., Obermaier-Kusser, B., Candaele, C., Martin, J. J. (1995) Neurological disorders in members of families with Leber's hereditary optic neuropathy (LHON) caused by different mitochondrial mutations Ophthalmic Genetics . 16 (3): 119-126 .
15972314 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 .
18647627 Muravchick, S. (2008) Clinical implications of mitochondrial disease Advanced Drug Delivery Reviews . 60 (13-14): 1553-1560 .
18320530 Nemes, A., De Coo, I. F., Spruijt, L., Smeets, H. J., Chinnery, P. F., Soliman, O. I., Geleijnse, M. L., Ten Cate, F. J. (2008) Is there alteration in aortic stiffness in Leber hereditary optic neuropathy? European Journal of Ophthalmology . 18 (2): 309-312 .
16083845 Newman, N. J. (2005) Hereditary optic neuropathies: from the mitochondria to the optic nerve American Journal of Ophthalmology . 140 (3): 517-523 .
19710181 Newman, N. J. (2009) Leber hereditary optic neuropathy: bad habits, bad vision? Brain . 132 (Pt 9): 2306-2308 .
16083844 Newman, N. J., Biousse, V., David, R., Bhatti, M. T., Hamilton, S. R., Farris, B. K., Lesser, R. L., Newman, S. A., Turbin, R. E., Chen, K., Keaney, R. P. (2005) Prophylaxis for second eye involvement in leber hereditary optic neuropathy: an open-labeled, nonrandomized multicenter trial of topical brimonidine purite American Journal of Ophthalmology . 140 (3): 407-415 .
21859767 Newman, N. J. (2011) Treatment of Leber hereditary optic neuropathy Brain . 134 (Pt 9): 2447-2450 .
7710535 Newman, N.J., Torroni, A., Brown, M.D., Lott, M.T., Wallace, D.C., Philen, R., Roman, G.C. (1995) Cuban optic neuropathy [letter; comment] Neurology . 45 (2): 397 .
7629530 Nikoskelainen, E.K., Marttila, R.J., Huoponen, K., Juvonen, V., Lamminen, T., Sonninen, P., Savontaus, M.L. (1995) Leber's 'plus': neurological abnormalities in patients with Leber's hereditary optic neuropathy Journal of Neurology, Neurosurgery and Psychiatry . 59 (2): 160-164 .
8600429 Nikoskelainen, E. K., Huoponen, K., Juvonen, V., Lamminen, T., Nummelin, K., Savontaus, M. L. (1996) Ophthalmologic findings in Leber hereditary optic neuropathy, with special reference to mtDNA mutations Ophthalmology . 103 (3): 504-514 .
20064630 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 .
8401538 Norby, S. (1993) Screening for the two most frequent mutations in Leber's hereditary optic neuropathy by duplex PCR based on allele-specific amplification Human Mutation . 2 (4): 309-313 .
7977345 Obermaier-Kusser, B., Lorenz, B., Schubring, S., Paprotta, A., Zerres, K., Meitinger, T., Meire, F., Cochaux, P., Blankenagel, A., Kommerell, G., Jaksch, M., Gerbitz, K. D. (1994) Features of mtDNA mutation patterns in European pedigrees and sporadic cases with Leber hereditary optic neuropathy American Journal of Human Genetics . 55 (5): 1063-1066 .
8071952 Oostra, R.J., Bolhuis, P.A., Wijburg, F.A., Zorn-Ende, G., Bleeker-Wagemakers, E.M. (1994) Leber's hereditary optic neuropathy: correlations between mitochondrial genotype and visual outcome Journal of Medical Genetics . 31 (4): 280-286 .
19800080 Palace, J. (2009) Multiple sclerosis associated with Leber's hereditary optic neuropathy Journal of the Neurological Sciences . 286 (40545): 24-27 .
22079202 Patsi, J., Maliniemi, P., Pakanen, S., Hinttala, R., Uusimaa, J., Majamaa, K., Nystrom, T., Kervinen, M., Hassinen, I. E. (2012) LHON/MELAS overlap mutation in ND1 subunit of mitochondrial complex I affects ubiquinone binding as revealed by modeling in Escherichia coli NDH-1 Biochimica et Biophysica Acta . 1817 (2): 312-318 .
8496715 Paulus, W., Straube, A., Bauer, W., Harding, A., E. (1993) Central nervous system involvement in Leber's optic neuropathy Journal of Neurology . 240 (4): 251-253 .
18806273 Pello, R., Martin, M. A., Carelli, V., Nijtmans, L. G., Achilli, A., Pala, M., Torroni, A., Gomez-Duran, A., Ruiz-Pesini, E., Martinuzzi, A., Smeitink, J. A., Arenas, J., Ugalde, C. (2008) Mitochondrial DNA background modulates the assembly kinetics of OXPHOS complexes in a cellular model of mitochondrial disease Human Molecular Genetics . 17 (24): 4001-4011 .
21457906 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 .
34168607 Peron, C., Maresca, A., Cavaliere, A., Iannielli, A., Broccoli, V., Carelli, V., Di Meo, I., Tiranti, V. (2021) Exploiting hiPSCs in Leber's hereditary optic neuropathy (LHON): present achievements and future perspectives Frontiers in Neurology . 12 (): 812 .
17292333 Petruzzella, V., Tessa, A., Torraco, A., Fattori, F., Dotti, M. T., Bruno, C., Cardaioli, E., Papa, S., Federico, A., Santorelli, F. M. (2007) The NDUFB11 gene is not a modifier in Leber hereditary optic neuropathy Biochemical and Biophysical Research Communications . 355 (1): 181-187 .
28040497 Pilz, Y. L., Bass, S. J., Sherman, J. (2016) A review of mitochondrial optic neuropathies: from inherited to acquired forms Journal of Optometry . 10 (4): 205-214 .
31932089 Poincenot, L., Pearson, A. L., Karanjia, R. (2020) Demographics of a large international population of patients affected by Leber's hereditary optic neuropathy Ophthalmology . 127 (5): 679-688 .
16050984 Povalko, N., Zakharova, E., Rudenskaia, G., Akita, Y., Hirata, K., Toyojiro, M., Koga, Y. (2005) A new sequence variant in mitochondrial DNA associated with high penetrance of Russian Leber hereditary optic neuropathy Mitochondrion . 5 (3): 194-199 .
12409182 Puomila, A., Viitanen, T., Savontaus, M. L., Nikoskelainen, E., Huoponen, K. (2002) Segregation of the ND4/11778 and the ND1/3460 mutations in four heteroplasmic LHON families Journal of the Neurological Sciences . 205 (1): 41-45 .
17406640 Puomila, A., Hamalainen, P., Kivioja, S., Savontaus, M. L., Koivumaki, S., Huoponen, K., Nikoskelainen, E. (2007) Epidemiology and penetrance of Leber hereditary optic neuropathy in Finland European Journal of Human Genetics . 15 (10): 1079-1089 .
33706792 Rabenstein, A., Catarino, C. B., Rampeltshammer, V., Schindler, D., Gallenmuller, C., Priglinger, C., Pogarell, O., Ruther, T., Klopstock, T. (2021) Smoking and alcohol, health-related quality of life and psychiatric comorbidities in Leber's hereditary optic neuropathy mutation carriers: a prospective cohort study Orphanet Journal of Rare Diseases . 16 (1): 127 .
19098324 Ramos, C. d. V. F., Bellusci, C., Savini, G., Carbonelli, M., Berezovsky, A., Tamaki, C., Cinoto, R., Sacai, P. Y., Moraes-Filho, M. N., Miura, H. M., Valentino, M. L., Iommarini, L., De Negri, A. M., Sadun, F., Cortelli, P., Montagna, P., Salomao, S. R., Sadun, A. A., Carelli, V., Barboni, P. (2009) Association of optic disc size with development and prognosis of Leber's hereditary optic neuropathy Investigative Ophthalmology and Visual Science . 50 (4): 1666-1674 .
21887510 Rance, G., Kearns, L. S., Tan, J., Gravina, A., Rosenfeld, L., Henley, L., Carew, P., Graydon, K., O'Hare, F., Mackey, D. A. (2012) Auditory function in individuals within Leber's hereditary optic neuropathy pedigrees Journal of Neurology . 259 (3): 542-550 .
7760326 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 .
7735876 Riordan-Eva, P., Sanders, M.D., Govan, G.G., Sweeney, M.G., Da Costa, J., Harding, A.E. (1995) The clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation Brain . 118 (Pt 2): 319-337 .
32991883 Rovcanin, B., Jancic, J., Samardzic, J., Rovcanin, M., Nikolic, B., Ivancevic, N., Novakovic, I., Kostic, V. (2020) In silico model of mtDNA mutations effect on secondary and 3D structure of mitochondrial rRNA and tRNA in Leber's hereditary optic neuropathy Experimental Eye Research . 201 (): 108277 .
32220313 Russell, O. M., Gorman, G. S., Lightowlers, R. N., Turnbull, D. M. (2020) Mitochondrial diseases: hope for the future Cell . 181 (1): 168-188 .
27746671 Ryan, S. E., Ryan, F., O'Dwyer, V., Neylan, D. (2016) A real-time ARMS PCR/high-resolution melt curve assay for the detection of the three primary mitochondrial mutations in Leber's hereditary optic neuropathy Molecular Vision . 22 (): 1169-1175 .
22410442 Sadun, A. A., Chicani, C. F., Ross-Cisneros, F. N., Barboni, P., Thoolen, M., Shrader, W. D., Kubis, K., Carelli, V., Miller, G. (2012) Effect of EPI-743 on the clinical course of the mitochondrial disease Leber hereditary optic neuropathy Archives of Neurology . 69 (3): 331-338 .
23297368 Samuels, D. C., Wonnapinij, P., Chinnery, P. F. (2013) Preventing the transmission of pathogenic mitochondrial DNA mutations: can we achieve long-term benefits from germ-line gene transfer? Human Reproduction (Oxford, England) . 28 (3): 554-559 .
15629832 Savini, G., Barboni, P., Valentino, M. L., Montagna, P., Cortelli, P., De Negri, A. M., Sadun, F., Bianchi, S., Longanesi, L., Zanini, M., Carelli, V. (2005) Retinal nerve fiber layer evaluation by optical coherence tomography in unaffected carriers with Leber's hereditary optic neuropathy mutations Ophthalmology . 112 (1): 127-131 .
7599218 Savontaus, M.L. (1995) mtDNA mutations in Leber's hereditary optic neuropathy Biochimica et Biophysica Acta . 1271 (1): 261-263 .
29983856 Sazonova, M. A., Sinyov, V. V., Ryzhkova, A. I., Galitsyna, E. V., Melnichenko, A. A., Postnov, A. Y., Orekhov, A. N., Sobenin, I. A. (2018) Cybrid models of pathological cell processes in different diseases Oxidative Medicine and Cellular Longevity . 2018 (): 4647214 .
15466086 Scaglia, F., Towbin, J. A., Craigen, W. J., Belmont, J. W., Smith, E. O., Neish, S. R., Ware, S. M., Hunter, J. V., Fernbach, S. D., Vladutiu, G. D., Wong, L. J., Vogel, H. (2004) Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease Pediatrics . 114 (4): 925-931 .
17886296 Schaefer, A. M., McFarland, R., Blakely, E. L., He, L., Whittaker, R. G., Taylor, R. W., Chinnery, P. F., Turnbull, D. M. (2007) Prevalence of mitochondrial DNA disease in adults Annals of Neurology . 63 (1): 35-39 .
30304398 Sharma, L. K., Tiwari, M., Rai, N. K., Bai, Y. (2019) Mitophagy activation repairs Leber's hereditary optic neuropathy-associated mitochondrial dysfunction and improves cell survival Human Molecular Genetics . 28 (3): 422-433 .
11331900 Smeitink, J., van den Heuvel, L., DiMauro, S. (2001) The genetics and pathology of oxidative phosphorylation Nature Reviews. Genetics . 2 (5): 342-352 .
8195807 Smith, P.R., Cooper, J.M., Govan, G.G., Harding, A.E., Schapira, A.H. (1994) Platelet mitochondrial function in Leber's hereditary optic neuropathy Journal of the Neurological Sciences . 122 (1): 80-83 .
12807863 Sorajja, P., Sweeney, M. G., Chalmers, R., Sachdev, B., Syrris, P., Hanna, M., Wood, N. D., McKenna, W. J., Elliott, P. M. (2003) Cardiac abnormalities in patients with Leber's hereditary optic neuropathy Heart . 89 (7): 791-792 .
16564802 Spruijt, L., Kolbach, D. N., de Coo, R. F., Plomp, A. S., Bauer, N. J., Smeets, H. J., de Die-Smulders, C. E. (2006) Influence of mutation type on clinical expression of Leber hereditary optic neuropathy American Journal of Ophthalmology . 141 (4): 676-682 .
15638829 Starikovskaya, E. B., Sukernik, R. I., Derbeneva, O. A., Volodko, N. V., Ruiz-Pesini, E., Torroni, A., Brown, M. D., Lott, M. T., Hosseini, S. H., Huoponen, K., Wallace, D. C. (2005) Mitochondrial DNA diversity in indigenous populations of the southern belt of Siberia and its implications for the origins and evolution of Native American haplogroups Annals of Human Genetics . 69 (Pt 1): 67-89 .
31817256 Starikovskaya, E., Shalaurova, S., Dryomov, S., Nazhmidenova, A., Volodko, N., Bychkov, I., Mazunin, I., Sukernik, R. (2019) Mitochondrial DNA Variation of Leber's hereditary optic neuropathy in Western Siberia Cells . 8 (12): e1574 .
28994349 Storoni, M., Robert, M. P., Plant, G. T. (2019) The therapeutic potential of a calorie-restricted ketogenic diet for the management of Leber hereditary optic neuropathy Nutritional Neuroscience . 22 (3): 156-164 .
20809775 Sundaresan, P., Kumar, S. M., Thompson, S., Fingert, J. H. (2010) Reduced frequency of known mutations in a cohort of LHON patients from India Ophthalmic Genetics . 31 (4): 196-199 .
17434142 Tong, Y., Mao, Y., Zhou, X., Yang, L., Zhang, J., Cai, W., Zhao, F., Wang, X., Lu, F., Qu, J., Guan, M. X. (2007) The mitochondrial tRNA(Glu) A14693G mutation may influence the phenotypic manifestation of ND1 G3460A mutation in a Chinese family with Leber's hereditary optic neuropathy Biochemical and Biophysical Research Communications . 357 (2): 524-530 .
20053576 Tong, Y., Sun, Y. H., Zhou, X., Zhao, F., Mao, Y., Wei, Q. P., Yang, L., Qu, J., Guan, M. X. (2010) Very low penetrance of Leber's hereditary optic neuropathy in five Han Chinese families carrying the ND1 G3460A mutation Molecular Genetics and Metabolism . 99 (4): 417-424 .
20211598 Tonska, K., Kodron, A., Bartnik, E. (2010) Genotype-phenotype correlations in Leber hereditary optic neuropathy Biochimica et Biophysica Acta . 1797 (40701): 1119-1123 .
9150158 Torroni, A., Petrozzi, M., D'Urbano, L., Sellitto, D., Zeviani, M., Carrara, F., Carducci, C., Leuzzi, V., Carelli, V., Barboni, P., De Negri, A., Scozzari, R. (1997) Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484 American Journal of Human Genetics . 60 (5): 1107-1121 .
28392196 Ueda, K., Morizane, Y., Shiraga, F., Shikishima, K., Ishikawa, H., Wakakura, M., Nakamura, M. (2017) Nationwide epidemiological survey of Leber hereditary optic neuropathy in Japan Journal of Epidemiology . 27 (9): 447-450 .
11937919 Vaphiades, M. S., Newman, N. J. (2002) Optic nerve enhancement in Leber hereditary optic neuropathy: four years later Journal of Neuro-Ophthalmology . 22 (1): 66-67 .
10608675 Vaphiades, M. S., Newman, N. J. (1999) Optic nerve enhancement on orbital magnetic resonance imaging in Leber's hereditary optic neuropathy Journal of Neuro-Ophthalmology . 19 (4): 238-239 .
16523671 Volod'ko, N. V., L'Vova, M. A., Starikovskaya, E. B., Derbeneva, O. A., Bychkov, I. Y., Mikhailovskaya, I. E., Pogozheva, I. V., Fedotov, F. F., Soyan, G. V., Procaccio, V., Wallace, D. C., Sukernik, R. I. (2006) [Spectrum of pathogenic mtDNA mutations in Leber's hereditary optic neuropathy families from Siberia] Genetika (Russian Journal of Genetics) . 42 (1): 76-83 .
28233183 Wallace, D. C., Lott, M. T. (2017) Leber hereditary optic neuropathy: exemplar of an mtDNA disease Handbook of Experimental Pharmacology . 240 (): 339-376 .
29253894 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 .
10545708 Went, L. N. (1999) Leber hereditary optic neuropathy (LHON): a mitochondrial disease with unresolved complexities Cytogenetics and Cell Genetics . 86 (2): 153-156 .
32704028 Xue, B., Li, Y., Wang, X., Li, R., Zeng, X., Yang, M., Xu, X., Ye, T., Bao, L., Huang, Y. (2020) TaqMan-MGB probe quantitative PCR assays to genotype and quantify three mtDNA mutations of Leber hereditary optic neuropathy Scientific Reports . 10 (1): 12264 .
11579587 Yamada, K., Mashima, Y., Hiida, Y., Oguchi, Y. (2001) [DNA diagnosis of Leber's hereditary optic neuropathy performed at Keio University Hospital] Nippon Ganka Gakkai Zasshi . 105 (9): 608-613 .
16829155 Yen, M. Y., Wang, A. G., Wei, Y. H. (2006) Leber's hereditary optic neuropathy: a multifactorial disease [Review] Progress in Retinal and Eye Research . 25 (4): 381-396 .
11853713 Yen, M. Y., Wang, A. G., Chang, W. L., Hsu, W. M., Liu, J. H., Wei, Y. H. (2002) Leber's hereditary optic neuropathy--the spectrum of mitochondrial DNA mutations in Chinese patients Japanese Journal of Ophthalmology . 46 (1): 45-51 .
20232220 Yu, D., Jia, X., Zhang, A. M., Guo, X., Zhang, Y. P., Zhang, Q., Yao, Y. G. (2010) Molecular characterization of six Chinese families with m.3460G>A and Leber hereditary optic neuropathy Neurogenetics . 11 (3): 349-356 .
20301353 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/ .
18070226 Yu-Wai-Man, P., Elliott, C., Griffiths, P. G., Johnson, I. J., Chinnery, P. F. (2008) Investigation of auditory dysfunction in Leber hereditary optic neuropathy Acta Ophthalmologica (Copenhagen) . 86 (6): 630-633 .
19001017 Yu-Wai-Man, P., Griffiths, P. G., Hudson, G., Chinnery, P. F. (2009) Inherited mitochondrial optic neuropathies [Review] Journal of Medical Genetics . 46 (3): 145-158 .
28481993 Yu-Wai-Man, P., Newman, N. J. (2017) Inherited eye-related disorders due to mitochondrial dysfunction Human Molecular Genetics . 26 (R1): R12-R20 .
12518276 Yu-Wai-Man, P., Griffiths, P. G., Brown, D. T., Howell, N., Turnbull, D. M., Chinnery, P. F. (2003) The epidemiology of Leber hereditary optic neuropathy in the North East of England American Journal of Human Genetics . 72 (2): 333-339 .
33911213 Yu-Wai-Man, P., Newman, N. J., Carelli, V., La Morgia, C., Biousse, V., Bandello, F. M., Clermont, C. V., Campillo, L. C., Leruez, S., Moster, M. L., Cestari, D. M., Foroozan, R., Sadun, A., Karanjia, R., Jurkute, N., Blouin, L., Taiel, M., Sahel, J. A., LHON Reality Study Group (2021) Natural history of patients with Leber hereditary optic neuropathy-results from the REALITY study Eye (London) . ePub ahead of print, http://doi.org/10.1038/s41433-021-01535-9 (): 165-172 .
15033723 Zanna, C., Ghelli, A., Porcelli, A. M., Carelli, V., Martinuzzi, A., Rugolo, M. (2003) Apoptotic cell death of cybrid cells bearing Leber's hereditary optic neuropathy mutations is caspase independent Annals of the New York Academy of Sciences . 1010 (.): 213-217 .
29189152 Zhang, Y., Tian, Z., Yuan, J., Liu, C., Liu, H. L., Ma, S. Q., Li, B. (2017) The progress of gene therapy for Leber's Optic Hereditary Neuropathy Current Gene Therapy . 17 (4): 320-326 .
34673906 Mejia-Vergara, A. J., Sadun, A. A., Chen, A. F., Smith, M. F., Wall, M., Karanjia, R. (2021) Benefit of stimulus size V perimetry for patients with a dense central scotoma from Leber's hereditary optic neuropathy Translational Vision Science and Technology . 10 (12): 31 .