MITOMAP References for Variant G-A at 11778

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 .
19726426 Abu-Amero, K. K., Jaber, M., Hellani, A., Bosley, T. M. (2010) Genome-wide expression profile of LHON patients with the 11778 mutation British Journal of Ophthalmology . 94 (2): 256-259 .
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 .
22194643 Amaral-Fernandes, M. S., Marcondes, A. M., Miranda, P. M., Maciel-Guerra, A. T., Sartorato, E. L. (2011) Mutations for Leber hereditary optic neuropathy in patients with alcohol and tobacco optic neuropathy Molecular Vision . 17 (): 3175-3179 .
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 .
7617199 Barbiroli, B., Montagna, P., Cortelli, P., Iotti, S., Lodi, R., Barboni, P., Monari, L., Lugaresi, E., Frassineti, C., Zaniol, P. (1995) Defective brain and muscle energy metabolism shown by in vivo 31P magnetic resonance spectroscopy in nonaffected carriers of 11778 mtDNA mutation Neurology . 45 (7): 1364-1369 .
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 .
17573650 Barnils, N., Mesa, E., Munoz, S., Ferrer-Artola, A., Arruga, J. (2007) [Response to idebenone and multivitamin therapy in Leber's hereditary optic neuropathy] Archivos de la Sociedad Espanola de Oftalmologia . 82 (6): 377-80 .
15548492 Battisti, C., Formichi, P., Cardaioli, E., Bianchi, S., Mangiavacchi, P., Tripodi, S. A., Tosi, P., Federico, A. (2004) Cell response to oxidative stress induced apoptosis in patients with Leber's hereditary optic neuropathy Journal of Neurology, Neurosurgery, and Psychiatry . 75 (12): 1731-1736 .
22108605 Bedford, F. L. (2012) Sephardic signature in haplogroup T mitochondrial DNA European Journal of Human Genetics . 20 (4): 441-448 .
31776719 Berardo, A., Emmanuele, V., Vargas, W., Tanji, K., Naini, A., Hirano, M. (2020) Leber hereditary optic neuropathy plus dystonia, and transverse myelitis due to double mutations in MT-ND4 and MT-ND6 Journal of Neurology . 267 (3): 823-829 .
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 .
2390098 Bolhuis, P.A., Bleeker-Wagemakers, E.M., Ponne, N.J., Van Schooneveld, M.J., Westerveld, A., Van den Bogert, C., Tabak, H.F. (1990) Rapid shift in genotype of human mitochondrial DNA in a family with Leber's hereditary optic neuropathy Biochemical and Biophysical Research Communications . 170 (3): 994-997 .
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 .
18676632 Bosley, T. M., Brodsky, M., Glasier, C. M., Abu-Amero, K. K. (2008) Sporadic bilateral optic neuropathy in children: the role of mitochondrial abnormalities Investigative Ophthalmology and Visual Science . 49 (12): 5250-5256 .
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 .
31896800 Bouzidi, A., Aboussair, N., Charif, M., Amalou, G., Goudenege, D., Desquiret-Dumas, V., Bris, C., Sifeddine, N., Nahili, H., Elqabli, M., Dafir, K., Kandil, M., Amati-Bonneau, P., Procaccio, V., Barakat, A., Lenaers, G. (2020) First characterization of LHON pedigrees in North Africa Eye (London, England) . 34 (11): 2138-2139 .
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 .
11754070 Brown, M. D., Allen, J. C., Van Stavern, G. P., Newman, N. J., Wallace, D. C. (2001) Clinical, genetic, and biochemical characterization of a Leber hereditary optic neuropathy family containing both the 11778 and 14484 primary mutations American Journal of Medical Genetics . 104 (4): 331-338 .
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 .
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 .
1937476 Carducci, C., Leuzzi, V., Scuderi, M., DeNegri, A.M., Gabrieli, C.B., Antonozzi, I., Pontecorvi, A. (1991) Mitochondrial DNA mutation in an Italian family with Leber hereditary optic neuropathy Human Genetics . 87 (6): 725-727 .
12379308 Carelli, V., Vergani, L., Bernazzi, B., Zampieron, C., Bucchi, L., Valentino, M., Rengo, C., Torroni, A., Martinuzzi, A. (2002) Respiratory function in cybrid cell lines carrying European mtDNA haplogroups: implications for Leber's hereditary optic neuropathy Biochimica et Biophysica Acta . 1588 (1): 7-14 .
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 .
17366829 Carelli, V., Franceschini, F., Venturi, S., Barboni, P., Savini, G., Barbieri, G., Pirro, E., La Morgia, C., Valentino, M. L., Zanardi, F., Violante, F. S., Mattioli, S. (2007) Grand rounds: could occupational exposure to n-hexane and other solvents precipitate visual failure in leber hereditary optic neuropathy? Environmental Health Perspectives . 115 (1): 113-115 .
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 .
27721048 Catarino, C. B., Ahting, U., Gusic, M., Iuso, A., Repp, B., Peters, K., Biskup, S., von Livonius, B., Prokisch, H., Klopstock, T. (2017) Characterization of a Leber's hereditary optic neuropathy (LHON) family harboring two primary LHON mutations m.11778G>A and m.14484T>C of the mitochondrial DNA Mitochondrion . 36 (): 15-20 .
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 .
8448903 Cavelier, L., Gyllensten, U., Dahl, N. (1993) Intrafamilial variation in Leber hereditary optic neuropathy revealed by direct mutation analysis Clinical Genetics . 43 (2): 69-72 .
15026512 Ceranic, B., Luxon, L. M. (2004) Progressive auditory neuropathy in patients with Leber's hereditary optic neuropathy Journal of Neurology, Neurosurgery and Psychiatry . 75 (4): 626-630 .
22669418 Chadderton, N., Palfi, A., Millington-Ward, S., Gobbo, O., Overlack, N., Carrigan, M., O'Reilly, M., Campbell, M., Ehrhardt, C., Wolfrum, U., Humphries, P., Kenna, P. F., Farrar, G. J. (2013) Intravitreal delivery of AAV-NDI1 provides functional benefit in a murine model of Leber hereditary optic neuropathy European Journal of Human Genetics . 21 (1): 62-68 .
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 .
14620678 Chang, C. W., Chang, C. H., Peng, M. L. (2003) Leber's hereditary opric neuropathy: a case report The Kaohsiung Journal of Medical Sciences . 19 (10): 516-521 .
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 .
11169561 Chinnery, P. F., Andrews, R. M., Turnbull, D. M., Howell, N. N. (2001) Leber hereditary optic neuropathy: Does heteroplasmy influence the inheritance and expression of the G11778A mitochondrial DNA mutation? American Journal of Medical Genetics . 98 (3): 235-243 .
16120317 Chinnery, P. F. (2002) Inheritance of mitochondrial disorders Mitochondrion . 2 (40545): 149-55 .
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 .
11754915 Chuenkongkaew, W. L., Lertrit, P., Poonyathalang, A., Sura, T., Ruangvaravate, N., Atchaneeyasakul, L., Suphavilai, R. (2001) Leber's hereditary optic neuropathy in Thailand Japanese Journal of Ophthalmology . 45 (6): 665-668 .
15804271 Chuenkongkaew, W. L., Lertrit, P., Limwongse, C., Nilanont, Y., Boonyapisit, K., Sangruchi, T., Chirapapaisan, N., Suphavilai, R. (2005) An unusual family with Leber's hereditary optic neuropathy and facioscapulohumeral muscular dystrophy European Journal of Neurology . 12 (5): 388-391 .
16148621 Chuenkongkaew, W. L., Suphavilai, R., Vaeusorn, L., Phasukkijwatana, N., Lertrit, P., Suktitipat, B. (2005) Proportion of 11778 mutant mitochondrial DNA and clinical expression in a Thai population with Leber hereditary optic neuropathy Journal of Neuro-ophthalmology . 25 (3): 173-175 .
33709232 Editors, Japanese Journal of Ophthalmology (2021) Characteristics of Japanese patients with Leber’s hereditary optic neuropathy and idebenone trial: a prospective, interventional, non-comparative study Japanese Journal of Ophthalmology . 65 (): 313–314
1866007 Cortelli, P., Montagna, P., Avoni, P., Sangiorgi, S., Bresolin, N., Moggio, M., Zaniol, P., Mantovani, V., Barboni, P., Barbiroli, B., Lugaresi, E. (1991) Leber's hereditary optic neuropathy: genetic, biochemical, and phosphorus magnetic resonance spectroscopy study in an Italian family Neurology . 41 (8): 1211-1215 .
9125387 Cortelli, P., Montagna, P., Pierangeli, G., Lodi, R., Barboni, P., Liguori, R., Carelli, V., Iotti, S., Zaniol, P., Lugaresi, E., Barbiroli, B. (1997) Clinical and brain bioenergetics improvement with idebenone in a patient with Leber's hereditary optic neuropathy: a clinical and 31P-MRS study Journal of the Neurological Sciences . 148 (1): 25-31 .
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 .
29554000 Cui, S., Jiang, H., Peng, J., Wang, J., Zhang, X. (2019) Evaluation of Vision-Related Quality of Life in Chinese Patients With Leber hereditary optic neuropathy and the G11778A Mutation Journal of Neuro-Ophthalmology . 39 (1): 56-59 .
8240101 Cullom, M.E., Heher, K.L., Miller, N.R., Savino, P.J., Johns, D.R. (1993) Leber's hereditary optic neuropathy masquerading as tobacco-alcohol amblyopia Archives of Ophthalmology . 111 (11): 1482-1485 .
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 .
7926004 Degli Esposti, M., Carelli, V., Ghelli, A., Ratta, M., Crimi, M., Sangiorgi, S., Montagna, P., Lenaz, G., Lugaresi, E., Cortelli, P. (1994) Functional alterations of the mitochondrially encoded ND4 subunit associated with Leber's hereditary optic neuropathy FEBS Letters . 352 (3): 375-379 .
31718067 DiMauro, S. (2019) A brief history of mitochondrial pathologies International Journal of Molecular Sciences . 20 (22): .
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 .
28219504 Dimopoulos, I. S., Xu, M. (2017) Re: Feuer et al.: Gene therapy for Leber hereditary optic neuropathy: initial results (Ophthalmology 2016;123:558-570) Ophthalmology . 124 (3): e22 .
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 .
24404670 Du, Y., Jiang, B., Li, K., Chen, Y., He, J. (2013) Leber hereditary optic neuropathy in a boy with fibrous boney dysplasia Eye Science . 28 (1): 48-50 .
16331570 Du, P. J., Zhou, J. W., Jin, X. M., Li, X. W., Wang, P. (2005) [Study on five point mutations in mitochondrial DNA in patients with Leber's hereditary optic neuropathy] Zhonghua Yi Xue Yi Chuan Xue Za Zhi . 22 (6): 675-678 .
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 .
18771762 Ellouze, S., Augustin, S., Bouaita, A., Bonnet, C., Simonutti, M., Forster, V., Picaud, S., Sahel, J. A., Corral-Debrinski, M. (2008) Optimized allotopic expression of the human mitochondrial ND4 prevents blindness in a rat model of mitochondrial dysfunction American Journal of Human Genetics . 83 (3): 373-387 .
31226990 Emperador, S., Lopez-Gallardo, E., Hernandez-Ainsa, C., Habbane, M., Montoya, J., Bayona-Bafaluy, M. P., Ruiz-Pesini, E. (2019) Ketogenic treatment reduces the percentage of a LHON heteroplasmic mutation and increases mtDNA amount of a LHON homoplasmic mutation Orphanet Journal of Rare Diseases . 14 (1): 150 .
8457609 Erickson, C.E., Castora, F.J. (1993) PCR amplification using a single cell allows the detection of the mtDNA lesion associated with Leber's hereditary optic neuropathy Biochimica et Biophysica Acta . 1181 (1): 77-82 .
16044424 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 .
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 .
26606867 Feuer, W. J., Schiffman, J. C., Davis, J. L., Porciatti, V., Gonzalez, P., Koilkonda, R. D., Yuan, H., Lalwani, A., Lam, B. L., Guy, J. (2016) Gene therapy for Leber hereditary optic neuropathy: initial results Ophthalmology . 123 (3): 558-570 .
32259370 Finsterer, J. (2020) Factors determining the early beneficial effect of unilateral gene therapy in Leber's hereditary optic neuropathy patients carrying variant m.11778G>A Acta Ophthalmologica . 98 (6): e788 .
8255489 Flanigan, K.M., Johns, D.R. (1993) Association of the 11778 mitochondrial DNA mutation and demyelinating disease Neurology . 43 (12): 2720-2722 .
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 .
21414825 Fruhman, G., Landsverk, M. L., Lotze, T. E., Hunter, J. V., Wangler, M. F., Adesina, A. M., Wong, L. J., Scaglia, F. (2011) Atypical presentation of Leigh syndrome associated with a Leber hereditary optic neuropathy primary mitochondrial DNA mutation Molecular Genetics and Metabolism . 103 (2): 153-160 .
7707093 Funakawa, I., Kato, H., Terao, A., Ichihashi, K., Kawashima, S., Hayashi, T., Mitani, K., Miyazaki, S. (1995) Cerebellar ataxia in patients with Leber's hereditary optic neuropathy Journal of Neurology . 242 (2): 75-77 .
29428506 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 .
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 .
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 .
19936068 Ghelli, A., Porcelli, A. M., Zanna, C., Vidoni, S., Mattioli, S., Barbieri, A., Iommarini, L., Pala, M., Achilli, A., Torroni, A., Rugolo, M., Carelli, V. (2009) The background of mitochondrial DNA haplogroup J increases the sensitivity of Leber's hereditary optic neuropathy cells to 2,5-hexanedione toxicity PLoS One . 4 (11): e7922 .
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 .
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 .
12402249 Guy, J., Qi, X., Pallotti, F., Schon, E. A., Manfredi, G., Carelli, V., Martinuzzi, A., Hauswirth, W. W., Lewin, A. S. (2002) Rescue of a mitochondrial deficiency causing Leber hereditary optic neuropathy Annals of Neurology . 52 (5): 534-542 .
28647203 Guy, J., Feuer, W. J., Davis, J. L., Porciatti, V., Gonzalez, P. J., Koilkonda, R. D., Yuan, H., Hauswirth, W. W., Lam, B. L. (2017) Gene therapy for Leber hereditary optic neuropathy: low- and medium-dose visual results Ophthalmology . 124 (11): 1621-1634 .
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 .
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 .
16120433 Herrnstadt, C., Howell, N. (2004) An evolutionary perspective on pathogenic mtDNA mutations: haplogroup associations of clinical disorders Mitochondrion . 4 (40669): 791-798 .
1895564 Hiida, Y., Mashima, Y., Oguchi, Y., Uemura, Y., Kudoh, J., Sakai, K., Shimizu, N. (1991) Mitochondrial DNA analysis of Leber's hereditary optic neuropathy Japanese Journal of Ophthalmology . 35 (1): 102-106 .
NA Hiida, Y., Mashima, Y., Oguchi, Y., Kudoh, J., Sakai, K., Shimizu, N. (1992) Analysis of mitochondrial DNA in Leber's hereditary optic neuropathy Molecular Approaches to the Study and Treatment of Human Diseases Yoshida, T.O., Wilson, J.M. (.): 69-71 Elsevier Science Publishers
29980632 Hirano, M., Emmanuele, V., Quinzii, C. M. (2018) Emerging therapies for mitochondrial diseases Essays in Biochemistry . 62 (3): 467-481 .
8662757 Hofhaus, G., Johns, D. R., Hurko, O., Attardi, G., Chomyn, A. (1996) Respiration and growth defects in transmitochondrial cell lines carrying the 11778 mutation associated with Leber's hereditary optic neuropathy Journal of Biological Chemistry . 271 (22): 13155-13161 .
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 .
2575667 Holt, I.J., Miller, D.H., Harding, A.E. (1989) Genetic heterogeneity and mitochondrial DNA heteroplasmy in Leber's hereditary optic neuropathy Journal of Medical Genetics . 26 (12): 739-743 .
2817063 Hotta, Y., Hayakawa, M., Saito, K., Kanai, A., Nakajima, A., Fujiki, K. (1989) Diagnosis of Leber's optic neuropathy by means of polymerase chain reaction amplification American Journal of Ophthalmology . 108 (5): 601-602 .
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 .
8023847 Howell, N., Xu, M., Halvorson, S., Bodis-Wollner, I., Sherman, J. (1994) A heteroplasmic LHON family: tissue distribution and transmission of the 11778 mutation American Journal of Human Genetics . 55 (1): 203-206 .
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 .
12464729 Howell, N., Miller, N. R., Mackey, D. A., Arnold, A., Herrnstadt, C., Williams, I. M., Kubacka, I. (2002) Lightning strikes twice: Leber hereditary optic neuropathy families with two pathogenic mtDNA mutations Journal of Neuro-ophthalmology . 22 (4): 262-269 .
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 .
28640805 Castellana, S., Fusilli, C., Mazzoccoli, G., Biagini, T., Capocefalo, D., Carella, M., Vescovi, A. L., Mazza, T. (2017) High-confidence assessment of functional impact of human mitochondrial non-synonymous genome variations by APOGEE PLoS Computational Biology . 13 (6): e1005628 .
11937918 Huang, C. C., Kuo, H. C., Chu, C. C., Kao, L. Y. (2002) Rapid visual recovery after coenzyme Q10 treatment of Leber hereditary optic neuropathy Journal of Neuro-Ophthalmology . 22 (1): 66 .
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 .
27127184 Hung, S. S., Van Bergen, N. J., Jackson, S., Liang, H., Mackey, D. A., Hernandez, D., Lim, S. Y., Hewitt, A. W., Trounce, I., Pebay, A., Wong, R. C. (2016) Study of mitochondrial respiratory defects on reprogramming to human induced pluripotent stem cells Aging (Albany NY) . 8 (5): 945-957 .
2286378 Huoponen, K., Vilkki, J., Savontaus, M.L., Aula, P., Nikoskelainen, E.K. (1990) Analysis of mitochondrial ND4 gene DNA sequence in Finnish families with Leber hereditary optic neuroretinopathy Genomics . 8 (3): 583-585 .
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 .
8118464 Huoponen, K., Juvonen, V., Iitia, A., Dahlen, P., Siitari, H., Aula, P., Nikoskelainen, E., Savontaus, M.L. (1994) Time-resolved fluorometry in the diagnosis of Leber hereditary optic neuroretinopathy Human Mutation . 3 (1): 29-36 .
11523562 Huoponen, K. (2001) Leber hereditary optic neuropathy: clinical and molecular genetic findings Neurogenetics . 3 (3): 119-125 .
1770665 Isashiki, Y., Nakagawa, M. (1991) Clinical correlation of mitochondrial DNA heteroplasmy and Leber's hereditary optic neuropathy Japanese Journal of Ophthalmology . 35 (3): 259-267 .
8320863 Isashiki, Y., Ohba, N., Uto, M., Nakagawa, M. (1993) Sequence homology of NADH CoQ reductase subunit IV with nucleotide-requiring enzymes Japanese Journal of Ophthalmology . 37 (1): 39-42 .
9541428 Isashiki, Y., Nakagawa, M., Ohba, N., Kamimura, K., Sakoda, Y., Higuchi, I., Izumo, S., Osame, M. (1998) Retinal manifestations in mitochondrial diseases associated with mitochondrial DNA mutation Acta Ophthalmologica Scandinavica . 76 (1): 6-13 .
12815198 Isashiki, Y., Sonoda, S., Izumo, S., Sakamoto, T., Tachikui, H., Inoue, I. (2003) Phylogenetic assessment of the mitochondrial DNA displacement loop haplotype in Japanese patients with Leber's hereditary optic neuropathy harboring the mitochondrial DNA G11778A mutation Ophthalmic Research . 35 (4): 224-231 .
7603534 Ishikawa, S., Ichibe, Y., Yokoe, J., Wakakura, M. (1995) Leber's hereditary optic neuropathy among Japanese Muscle and Nerve . 3 (9): S85-S89 .
15838728 Ishikawa, K., Funayama, T., Ohde, H., Inagaki, Y., Mashima, Y. (2005) Genetic variants of TP53 and EPHX1 in Leber's hereditary optic neuropathy and their relationship to age at onset Japanese Journal of Ophthalmology . 49 (2): 121-126 .
33185792 Ishikawa, H., Masuda, Y., Ishikawa, H., Shikisima, K., Goseki, T., Kezuka, T., Terao, M., Miyazaki, A., Matsumoto, K., Nishikawa, H., Gomi, F., Mimura, O. (2021) Characteristics of Japanese patients with Leber's hereditary optic neuropathy and idebenone trial: a prospective, interventional, non-comparative study Japanese Journal of Ophthalmology . 65 (1): 133-142 .
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 .
29955763 Jacobi, J. E., Leavitt, J. A., Chen, J. J. (2018) A middle-aged woman with vision loss and vecocentral scotoma JAMA Ophthalmology . 136 (9): 1070-1071 .
27847334 Jankauskaite, E., Bartnik, E., Kodron, A. (2017) Investigating Leber's hereditary optic neuropathy: Cell models and future perspectives Mitochondrion . 32 (): 19-26 .
8867076 Jansen, P. H., van der Knaap, M. S., de Coo, I. F. (1996) Leber's hereditary optic neuropathy with the 11 778 mtDNA mutation and white matter disease resembling multiple sclerosis: clinical, MRI and MRS findings Journal of the Neurological Sciences . 135 (2): 176-180 .
NA Jha, R. K., Dawar, C., Hasan, Q., Pujar, A., Gupta, G., Vishnu, V., Y., Kekunnaya, R., Thangaraj, K. (2021) Mitochondrial genetic heterogeneity in Leber’s hereditary optic neuropathy: original study with meta-analysis Genes . 12 (9): 1300 .
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 .
19026397 Ji, Y., Zhang, A. M., Jia, X., Zhang, Y. P., Xiao, X., Li, S., Guo, X., Bandelt, H. J., Zhang, Q., Yao, Y. G. (2008) Mitochondrial DNA haplogroups M7b1'2 and M8a affect clinical expression of leber hereditary optic neuropathy in Chinese families with the m.11778G-->a mutation American Journal of Human Genetics . 83 (6): 760-768 .
21482521 Ji, Y. C., Liu, X. L., Zhao, F. X., Zhang, J. J., Zhang, Y., Zhou, X. T., Qu, J., Guan, M. X. (2011) [The mitochondrial ND5 T12338C mutation may be associated with Leber's hereditary optic neuropathy in two Chinese families] Yi Chuan . 33 (4): 322-328 .
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 .
30597069 Ji, Y., Zhang, J., Yu, J., Wang, Y., Lu, Y., Liang, M., Li, Q., Jin, X., Wei, Y., Meng, F., Gao, Y., Cang, X., Tong, Y., Liu, X., Zhang, M., Jiang, P., Zhu, T., Mo, J. Q., Huang, T., Jiang, P., Guan, M. X. (2019) Contribution of mitochondrial ND1 3394T>C mutation to the phenotypic manifestation of Leber's hereditary optic neuropathy Human Molecular Genetics . 28 (9): 1515-1529 .
32723871 Ji, Y., Zhang, J., Lu, Y., Yi, Q., Chen, M., Xie, S., Mao, X., Xiao, Y., Meng, F., Zhang, M., Yang, R., Guan, M. X. (2020) Complex I mutations synergize to worsen the phenotypic expression of Leber's hereditary optic neuropathy The Journal of Biological Chemistry . 295 (38): 13224-13238 .
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 .
26647310 Jiang, P., Jin, X., Peng, Y., Wang, M., Liu, H., Liu, X., Zhang, Z., Ji, Y., Zhang, J., Liang, M., Zhao, F., Sun, Y. H., Zhang, M., Zhou, X., Chen, Y., Mo, J. Q., Huang, T., Qu, J., Guan, M. X. (2016) The exome sequencing identified the mutation in YARS2 encoding the mitochondrial tyrosyl-tRNA synthetase as a nuclear modifier for the phenotypic manifestation of Leber's hereditary optic neuropathy-associated mitochondrial DNA mutation Human Molecular Genetics . 25 (3): 584-596 .
27427386 Jiang, P., Liang, M., Zhang, C., Zhao, X., He, Q., Cui, L., Liu, X., Sun, Y. H., Fu, Q., Ji, Y., Bai, Y., Huang, T., Guan, M. X. (2016) Biochemical evidence for a mitochondrial genetic modifier in the phenotypic manifestation of Leber's hereditary optic neuropathy-associated mitochondrial DNA mutation Human Molecular Genetics . 25 (16): 3613-3625 .
2222273 Johns, D. R. (1990) The molecular genetics of Leber's hereditary optic neuropathy Archives of Ophthalmology . 108 (10): 1405-1407 .
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 .
8240103 Johns, D. R., Smith, K. H., Miller, N. R., Sulewski, M. E., Bias, W. B. (1993) Identical twins who are discordant for Leber's hereditary optic neuropathy Archives of Ophthalmology . 111 (11): 1491-1494 .
1900003 Johns, D. R., Berman, J. (1991) Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy Biochemical and Biophysical Research Communications . 174 (3): 1324-1330 .
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 .
30936345 Joshi, S., Kermode, A. G. (2019) Harding's disease: an important MS mimic BMJ Case Reports . 12 (3): e228337 .
30516647 Jurkute, N., Harvey, J., Yu-Wai-Man, P. (2019) Treatment strategies for Leber hereditary optic neuropathy Current Opinion in Neurology . 32 (1): 99-104 .
28650878 Jurkute, N., Yu-Wai-Man, P. (2017) Leber hereditary optic neuropathy: bridging the translational gap Current Opinion in Ophthalmology . 28 (5): 403-409 .
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 .
29049835 Karanjia, R., Berezovsky, A., Sacai, P. Y., Cavascan, N. N., Liu, H. Y., Nazarali, S., Moraes-Filho, M. N., Anderson, K., Tran, J. S., Watanabe, S. E., Moraes, M. N., Sadun, F., DeNegri, A. M., Barboni, P., do Val Ferreira Ramos, C., La Morgia, C., Carelli, V., Belfort, R., Jr., Coupland, S. G., Salomao, S. R., Sadun, A. A. (2017) The photopic negative response: an objective measure of retinal ganglion cell function in patients with Leber's hereditary optic neuropathy Investigative Ophthalmology and Visual Science . 58 (6): BIO300-BIO306 .
20111055 Kato, T., Nishigaki, Y., Noguchi, Y., Ueno, H., Hosoya, H., Ito, T., Kimura, Y., Kitamura, K., Tanaka, M. (2010) Extensive and rapid screening for major mitochondrial DNA point mutations in patients with hereditary hearing loss Journal of Human Genetics . 55 (3): 147-154 .
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 .
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 .
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 .
21063443 Kleefstra, T., Wortmann, S. B., Rodenburg, R. J., Bongers, E. M., Hadzsiev, K., Noordam, C., van den Heuvel, L. P., Nillesen, W. M., Hollody, K., Gillessen-Kaesbach, G., Lammens, M., Smeitink, J. A., van der Burgt, I., Morava, E. (2011) Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway European Journal of Human Genetics . 19 (2): 138-144 .
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 .
8023848 Kobayashi, Y., Sharpe, H., Brown, N. (1994) Single-cell analysis of intercellular heteroplasmy of mtDNA in Leber hereditary optic neuropathy American Journal of Human Genetics . 55 (1): 206-209 .
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 .
20625049 Koilkonda, R. D., Chou, T. H., Porciatti, V., Hauswirth, W. W., Guy, J. (2010) Induction of rapid and highly efficient expression of the human ND4 complex I subunit in the mouse visual system by self-complementary adeno-associated virus Archives of Ophthalmology . 128 (7): 876-883 .
20019878 Koilkonda, R. D., Hauswirth, W. W., Guy, J. (2009) Efficient expression of self-complementary AAV in ganglion cells of the ex vivo primate retina Molecular Vision . 15 (): 2796-2802 .
25342621 Koilkonda, R., Yu, H., Talla, V., Porciatti, V., Feuer, W. J., Hauswirth, W. W., Chiodo, V., Erger, K. E., Boye, S. L., Lewin, A. S., Conlon, T. J., Renner, L., Neuringer, M., Detrisac, C., Guy, J. (2014) LHON gene therapy vector prevents visual loss and optic neuropathy induced by G11778A mutant mitochondrial DNA: biodistribution and toxicology profile Investigative Ophthalmology and Visual Science . 55 (12): 7739-7753 .
24457989 Koilkonda, R. D., Yu, H., Chou, T. H., Feuer, W. J., Ruggeri, M., Porciatti, V., Tse, D., Hauswirth, W. W., Chiodo, V., Boye, S. L., Lewin, A. S., Neuringer, M., Renner, L., Guy, J. (2014) Safety and effects of the vector for the Leber hereditary optic neuropathy gene therapy clinical trial JAMA Ophthalmology . 132 (4): 409-420 .
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 .
16705513 Lachmund, U., Mojon, D. S. (2006) [Leber's hereditary optic neuropathy in malnutrition: a case report] Klinische Monatsblatter fur Augenheilkunde . 223 (5): 393-396 .
20837795 Lam, B. L., Feuer, W. J., Abukhalil, F., Porciatti, V., Hauswirth, W. W., Guy, J. (2010) Leber hereditary optic neuropathy gene therapy clinical trial recruitment: year 1 Archives of Ophthalmology . 128 (9): 1129-1135 .
24525545 Lam, B. L., Feuer, W. J., Schiffman, J. C., Porciatti, V., Vandenbroucke, R., Rosa, P. R., Gregori, G., Guy, J. (2014) Trial end points and natural history in patients with G11778A Leber hereditary optic neuropathy : preparation for gene therapy clinical trial JAMA Ophthalmology . 132 (4): 428-436 .
27631475 Lam, B. L., Burke, S. P., Wang, M. X., Nadayil, G. A., Rosa, P. R., Gregori, G., Feuer, W. J., Cuprill-Nilson, S., Vandenbroucke, R., Zhang, X., Guy, J. (2016) Macular retinal sublayer thicknesses in G11778A Leber hereditary optic neuropathy Ophthalmic Surgery, Lasers and Imaging Retina . 47 (9): 802-810 .
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 .
1763894 Larsson, N.G.,ersen, O., Holme, E., Oldfors, A., Wahlstrom, J. (1991) Leber's hereditary optic neuropathy and complex I deficiency in muscle Annals of Neurology . 30 (5): 701-708 .
12402246 Larsson, N. G. (2002) Leber hereditary optic neuropathy: a nuclear solution of a mitochondrial problem Annals of Neurology . 52 (5): 529-530 .
30831606 Lazdinyte, S., Schorderet, D. F., Schaller, A., Valmaggia, C., Todorova, M. G. (2019) Analysis of inherited optic neuropathies Klinische Monatsblatter fur Augenheilkunde . 236 (4): 451-461 .
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 .
10087740 Lertrit, P., Ruangvaravate, N., Trongpanich, Y., Imsumran, A., Mungkornkarn, C., Neungton, N. (1999) Leber's hereditary optic neuropathy (LHON) with mitochondrial ND4 gene mutation (11778) in a Thai patient Journal of the Medical Association of Thailand . 82 (1): 59-64 .
29454364 Leruez, S., Verny, C., Bonneau, D., Procaccio, V., Lenaers, G., Amati-Bonneau, P., Reynier, P., Scherer, C., Prundean, A., Orssaud, C., Zanlonghi, X., Rougier, M. B., Tilikete, C., Milea, D. (2018) Cyclosporine A does not prevent second-eye involvement in Leber's hereditary optic neuropathy Orphanet Journal of Rare Diseases . 13 (1): 33 .
16624503 Li, R., Qu, J., Zhou, X., Tong, Y., Hu, Y., Qian, Y., Lu, F., Mo, J. Q., West, C. E., Guan, M. X. (2006) The mitochondrial tRNA(Thr) A15951G mutation may influence the phenotypic expression of the LHON-associated ND4 G11778A mutation in a Chinese family Gene . 376 (1): 79-86 .
NA Li, B. (2018) Clinical Trial "Efficacy Study of Gene Therapy for The Treatment of Acute LHON Onset Within Three Months (LHON)" Online . ePub (https://clinicaltrials.gov/ct2/show/NCT03428178): .
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 .
30558558 Lin, Y. H., Wang, N. K., Yeung, L., Lai, C. C., Chuang, L. H. (2018) Juvenile open-angle glaucoma associated with Leber's hereditary optic neuropathy: a case report and literature review BMC Ophthalmology . 18 (1): 323 .
32096343 Liu, H. L., Yuan, J. J., Zhang, Y., Tian, Z., Li, X., Wang, D., Du, Y. Y., Song, L., Li, B. (2020) Factors associated with rapid improvement in visual acuity in patients with Leber's hereditary optic neuropathy after gene therapy Acta Ophthalmologica (Copenhagen) . 98 (6): e730–e733 .
2346190 Lott, M.T., Voljavec, A.S., Wallace, D.C. (1990) Variable genotype of Leber's hereditary optic neuropathy patients American Journal of Ophthalmology . 109 (6): 625-631 .
29116953 Lu, Q., Guo, Y., Yi, J., Deng, X., Yang, Z., Yuan, X., Deng, H. (2017) Identification of an ND4 Mutation in Leber hereditary optic neuropathy Optometry and Vision Science . 94 (12): 1090-1094 .
29427840 Lu, H. E., Yang, Y. P., Chen, Y. T., Wu, Y. R., Wang, C. L., Tsai, F. T., Hwang, D. K., Lin, T. C., Chen, S. J., Wang, A. G., Hsieh, P. C. H., Chiou, S. H. (2018) Generation of patient-specific induced pluripotent stem cells from Leber's hereditary optic neuropathy Stem Cell Research . 28 (): 56-60 .
16120371 Luca, C. C., Lam, B. L., Moraes, C. T. (2004) Erythromycin as a potential precipitating agent in the onset of Leber's hereditary optic neuropathy Mitochondrion . 4 (1): 31-36 .
10636656 Luke, C., Cornely, O. A., Fricke, J., Lehrer, E., Bartz-Schmidt, K. U. (1999) Late onset of Leber's hereditary optic neuropathy in HIV infection British Journal of Ophthalmology . 83 (10): 1204-1205 .
9685604 Lunardi, J., Darrouzet, E., Dupuis, A., Issartel, J.P. (1998) The nuoM arg368his mutation in NADH:ubiquinone oxidoreductase from Rhodobacter capsulatus: a model for the human nd4-11778 mtDNA mutation associated with Leber's hereditary optic neuropathy Biochimica et Biophysica Acta . 1407 (2): 114-124 .
27071925 Lyseng-Williamson, K. A. (2016) Idebenone: a review in Leber's hereditary optic neuropathy Drugs . 76 (7): 805-813 .
17724295 McFarland, R., Chinnery, P. F., Blakely, E. L., Schaefer, A. M., Morris, A. A., Foster, S. M., Tuppen, H. A., Ramesh, V., Dorman, P. J., Turnbull, D. M., Taylor, R. W. (2007) Homoplasmy, heteroplasmy, and mitochondrial dystonia Neurology . 69 (9): 911-916 .
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 .
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 .
16617593 Martin-Kleiner, I., Gabrilovac, J., Bradvica, M., Vidovic, T., Cerovski, B., Fumic, K., Boranic, M. (2006) Leber's hereditary optic neuroretinopathy (LHON) associated with mitochondrial DNA point mutation G11778A in two Croatian families Collegium Antropologicum . 30 (1): 171-174 .
1353825 Mashima, Y., Hiida, Y., Oguchi, Y. (1992) Remission of Leber's hereditary optic neuropathy with idebenone Lancet . 340 (8815): 368-369 .
8103501 Mashima, Y., Hiida, Y., Oguchi, Y., Kudoh, J., Shimizu, N. (1993) High frequency of mutations at position 11778 in mitochondrial ND4 gene in Japanese families with Leber's hereditary optic neuropathy Human Genetics . 92 (1): 101-102 .
8250088 Mashima, Y., Hiida, Y., Kubota, R., Oguchi, Y., Kudoh, J., Shimizu, N. (1994) DNA diagnosis of Leber's hereditary optic neuropathy using dried blood specimens American Journal of Ophthalmology . 116 (6): 773-774 .
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 .
29047345 Mashima, Y., Kigasawa, K., Shinoda, K., Wakakura, M., Oguchi, Y. (2017) Visual prognosis better in eyes with less severe reduction of visual acuity one year after onset of Leber hereditary optic neuropathy caused by the 11,778 mutation BMC Ophthalmology 17 (1): 192 .
7832241 Mashima, Y., Hiida, Y., Saga, M., Oguchi, Y., Kudoh, J., Shimizu, N. (1995) Risk of false-positive molecular genetic diagnosis of Leber's hereditary optic neuropathy American Journal of Ophthalmology . 119 (2): 245-246 .
7601652 Mashima, Y., Saga, M., Hiida, Y., Oguchi, Y., Wakakura, M., Kudoh, J., Shimizu, N. (1995) Quantitative determination of heteroplasmy in Leber's hereditary optic neuropathy by single-strand conformation polymorphism Investigative Ophthalmology and Visual Science . 36 (8): 1714-1720 .
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 .
7649539 Matthews, P.M., Brown, R.M., Morten, K., Marchington, D., Poulton, J., Brown, G. (1995) Intracellular heteroplasmy for disease-associated point mutations in mtDNA: implications for disease expression and evidence for mitotic segregation of heteroplasmic units of mtDNA Human Genetics . 96 (3): 261-268 .
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 .
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 .
19015050 Melberg, A., Moslemi, A. R., Palm, O., Raininko, R., Stalberg, E., Oldfors, A. (2009) A patient with two mitochondrial DNA mutations causing PEO and LHON European Journal of Medical Genetics . 52 (1): 47-48 .
12560876 Mimaki, M., Ikota, A., Sato, A., Komaki, H., Akanuma, J., Nonaka, I., Goto, Y. (2003) A double mutation (G11778A and G12192A) in mitochondrial DNA associated with Leber's hereditary optic neuropathy and cardiomyopathy Journal of Human Genetics . 48 (1): 47-50 .
10611124 Mirabella, M., Di Giovani, S., Silvestri, G., Tonali, P., Servidei, S. (2000) Apoptosis in mitochondrial encephalomyopathies with mitochondrial DNA mutations: A potential pathogenic mechanism. Brain . 123 (Pt 1): 93-104 .
29133642 Mishra, A., Devi, S., Saxena, R., Gupta, N., Kabra, M., Chowdhury, M. R. (2017) Frequency of primary mutations of Leber's hereditary optic neuropathy patients in North Indian population Indian Journal of Ophthalmology . 65 (11): 1156-1160 .
9541429 Mitani, I., Miyazaki, S., Hayashi, T., Fukidome, Y., Shimo-oku, M. (1998) Detection of mitochondrial DNA nucleotide 11778 point mutation of Leber hereditary optic neuropathy from archival stained histopathological preparations Acta Ophthalmologica Scandinavica . 76 (1): 14-19 .
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 .
7745422 Montagna, P., Plazzi, G., Cortelli, P., Carelli, V., Lugaresi, E., Barboni, P., Fiocchi, M. (1995) Abnormal lactate after effort in healthy carriers of Leber's hereditary optic neuropathy Journal of Neurology, Neurosurgery and Psychiatry . 58 (5): 640-641 .
8474822 Moorman, C.M., Elston, J.S., Matthews, P. (1993) Leber's hereditary optic neuropathy as a cause of severe visual loss in childhood Pediatrics . 91 (5): 988-989 .
7823072 Morrissey, S.P., Borruat, F.X., Miller, D.H., Moseley, I.F., Sweeney, M.G., Govan, G.G., Kelly, M.A., Francis, D.A., Harding, A.E., McDonald, W.I. (1995) Bilateral simultaneous optic neuropathy in adults: clinical, imaging, serological, and genetic studies Journal of Neurology, Neurosurgery and Psychiatry . 58 (1): 70-74 .
34310464 Moster, M. L., Sergott, R. C., Newman, N. J., Yu-Wai-Man, P., Carelli, V., Bryan, M. S., Smits, G., Biousse, V., Vignal-Clermont, C., Klopstock, T., Sadun, A. A., DeBusk, A. A., Carbonelli, M., Hage, R., Priglinger, S., Karanjia, R., Blouin, L., Taiel, M., Katz, B., Sahel, J. A., group, L. s. (2021) Cross-sectional analysis of baseline visual parameters in subjects recruited into the RESCUE and REVERSE ND4-LHON gene therapy studies Journal of Neuro-Ophthalmology . 41 (3): 298-308 .
18647627 Muravchick, S. (2008) Clinical implications of mitochondrial disease Advanced Drug Delivery Reviews . 60 (13-14): 1553-1560 .
1635296 Nakamura, M., Ara, F., Yamada, M., Hotta, Y., Hayakawa, M., Fujiki, K., Kanai, A., Sakai, J., Inoue, M., Yamamoto, M., Fujiwara, Y., Umoto, A., Miyazaki, S., Shimo-Oku, M., Furuyama, J.-I., Nakajima, A., Imachi, J. (1992) High frequency of mitochondrial ND4 gene mutation in Japanese pedigrees with Leber hereditary optic neuropathy Japanese Journal of Ophthalmology . 36 (1): 56-61 .
8449667 Nakamura, M., Fujiwara, Y., Yamamoto, M. (1993) Homoplasmic and exclusive ND4 gene mutation in Japanese pedigrees with Leber's disease Investigative Ophthalmology and Visual Science . 34 (3): 488-495 .
8165962 Nakamura, M., Yamamoto, M. (1994) [Genetic characteristics of Japanese pedigrees with Leber's hereditary optic neuropathy] Nippon Ganka Gakkai Zasshi . 98 (4): 319-326 .
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 .
8489411 Newman, N.J. (1993) Leber's hereditary optic neuropathy. New genetic considerations Archives of Neurology . 50 (5): 540-548 .
12464728 Newman, N. J. (2002) From genotype to phenotype in Leber hereditary optic neuropathy: still more questions than answers Journal of Neuro-ophthalmology . 22 (4): 257-261 .
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 .
32969847 Newman, N. J., Carelli, V., Taiel, M., Yu-Wai-Man, P. (2020) Visual outcomes in Leber hereditary optic neuropathy patients with the m.11778G>A (MTND4) mitochondrial DNA mutation Journal of Neuro-Ophthalmology . 40 (4): 547-557 .
34108929 Newman, N. J., Yu-Wai-Man, P., Carelli, V., Biousse, V., Moster, M. L., Vignal-Clermont, C., Sergott, R. C., Klopstock, T., Sadun, A. A., Girmens, J.-F., La Morgia, C., DeBusk, A. A., Jurkute, N., Priglinger, C., Karanjia, R., Josse, C., Salzmann, J., Montestruc, F., Roux, M., Taiel, M., Sahel, J.-A. (2021) Intravitreal gene therapy vs. natural history in patients with Leber hereditary optic neuropathy carrying the m.11778G>A ND4 mutation: systematic review and indirect comparison Frontiers in Neurology . 12 (580): .
33451738 Newman, N. J., Yu-Wai-Man, P., Carelli, V., Moster, M. L., Biousse, V., Vignal-Clermont, C., Sergott, R. C., Klopstock, T., Sadun, A. A., Barboni, P., DeBusk, A. A., Girmens, J. F., Rudolph, G., Karanjia, R., Taiel, M., Blouin, L., Smits, G., Katz, B., Sahel, J. A., Group, L. S. (2021) Efficacy and safety of intravitreal gene therapy for Leber hereditary optic neuropathy treated within 6 months of disease onset Ophthalmology . 128 (5): 649-660 .
2039048 Newman, N.J., Lott, M.T., Wallace, D.C. (1991) The clinical characteristics of pedigrees of Leber's hereditary optic neuropathy with the 11778 mutation American Journal of Ophthalmology . 111 (6): 750-762 .
8053461 Newman, N.J., Torroni, A., Brown, M.D., Lott, M.T., Fernandez, M.M., Wallace, D.C., the Cuba Neuropathy Field Investigation Team (1994) Epidemic neuropathy in Cuba not associated with mitochondrial DNA mutations found in Leber's hereditary optic neuropathy patients American Journal of Ophthalmology . 118 (2): 158-168 .
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 .
2346203 Newman, N.J., Wallace, D.C. (1990) Mitochondria and Leber's hereditary optic neuropathy American Journal of Ophthalmology . 109 (6): 726-730 .
34146515 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 .
21145289 Niehusmann, P., Surges, R., von Wrede, R. D., Elger, C. E., Wellmer, J., Reimann, J., Urbach, H., Vielhaber, S., Bien, C. G., Kunz, W. S. (2011) Mitochondrial dysfunction due to Leber's hereditary optic neuropathy as a cause of visual loss during assessment for epilepsy surgery Epilepsy and Behavior . 20 (1): 38-43 .
7916404 Nikoskelainen, E.K., Savontaus, M.L., Huoponen, K., Antila, K., Hartiala, J. (1994) Pre-excitation syndrome in Leber's hereditary optic neuropathy Lancet . 344 (8926): 857-858 .
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 .
7617193 Nishimura, M., Obayashi, H., Ohta, M., Uchiyama, T., Hao, Q., Saida, T. (1995) No association of the 11778 mitochondrial DNA mutation and multiple sclerosis in Japan Neurology . 45 (7): 1333-1334 .
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 .
8101084 Norby, S. (1993) Mutation-specific PCR: a rapid and inexpensive diagnostic method, as exemplified by mitochondrial DNA analysis in Leber's hereditary optic neuropathy DNA and Cell Biology . 12 (6): 549-552 .
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 .
9175737 Oexle, K., Zwirner, A. (1997) Advanced telomere shortening in respiratory chain disorders Human Molecular Genetics . 6 (6): 905-908 .
7639060 Olsen, N.K., Hansen, A.W., Norby, S., Edal, A.L., Jorgensen, J.R., Rosenberg, T. (1995) Leber's hereditary optic neuropathy associated with a disorder indistinguishable from multiple sclerosis in a male harbouring the mitochondrial DNA 11778 mutation Acta Neurologica Scandinavica . 91 (5): 326-329 .
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 .
1575231 Ortiz, R.G., Newman, N.J., Manoukian, S.V., Diesenhouse, M.C., Lott, M.T., Wallace, D.C. (1992) Optic disk cupping and electrocardiographic abnormalities in an American pedigree with Leber's hereditary optic neuropathy American Journal of Ophthalmology . 113 (5): 561-566 .
19800080 Palace, J. (2009) Multiple sclerosis associated with Leber's hereditary optic neuropathy Journal of the Neurological Sciences . 286 (40545): 24-27 .
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 .
18848389 Perez, F., Anne, O., Debruxelles, S., Menegon, P., Lambrecq, V., Lacombe, D., Martin-Negrier, M. L., Brochet, B., Goizet, C. (2009) Leber's optic neuropathy associated with disseminated white matter disease: a case report and review Clinical Neurology and Neurosurgery . 111 (1): 83-86 .
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 .
17072496 Phasukkijwatana, N., Chuenkongkaew, W. L., Suphavilai, R., Luangtrakool, K., Kunhapan, B., Lertrit, P. (2006) Transmission of heteroplasmic G11778A in extensive pedigrees of Thai Leber hereditary optic neuropathy Journal of Human Genetics . 51 (12): 1110-1117 .
16477364 Phasukkijwatana, N., Chuenkongkaew, W. L., Suphavilai, R., Suktitipat, B., Pingsuthiwong, S., Ruangvaravate, N., Atchaneeyasakul, L. O., Warrasak, S., Poonyathalang, A., Sura, T., Lertrit, P. (2006) The unique characteristics of Thai Leber hereditary optic neuropathy: analysis of 30 G11778A pedigrees Journal of Human Genetics . 51 (4): 298-304 .
20407791 Phasukkijwatana, N., Kunhapan, B., Stankovich, J., Chuenkongkaew, W. L., Thomson, R., Thornton, T., Bahlo, M., Mushiroda, T., Nakamura, Y., Mahasirimongkol, S., Tun, A. W., Srisawat, C., Limwongse, C., Peerapittayamongkol, C., Sura, T., Suthammarak, W., Lertrit, P. (2010) Genome-wide linkage scan and association study of PARL to the expression of LHON families in Thailand Human Genetics . 128 (1): 39-49 .
NA van Oven, M., Kayser, M. (2014) . http://www.phylotree.org . Variants appear in tree, sequence(s) available. Phylotree (Build 16): 19 Feb .
8071960 Pilz, D., Quarrell, O.W., Jones, E.W. (1994) Mitochondrial mutation commonly associated with Leber's hereditary optic neuropathy observed in a patient with Wolfram syndrome (DIDMOAD) Journal of Medical Genetics . 31 (4): 328-330 .
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 .
32740724 Piotrowska-Nowak, A., Krawczynski, M. R., Kosior-Jarecka, E., Ambroziak, A. M., Korwin, M., Oldak, M., Tonska, K., Bartnik, E. (2020) Mitochondrial genome variation in male LHON patients with the m.11778G >A mutation Metabolic Brain Disease . 35 (8): 1317-1327 .
26410888 Pisano, A., Preziuso, C., Iommarini, L., Perli, E., Grazioli, P., Campese, A. F., Maresca, A., Montopoli, M., Masuelli, L., Sadun, A. A., d'Amati, G., Carelli, V., Ghelli, A., Giordano, C. (2015) Targeting estrogen receptor beta as preventive therapeutic strategy for Leber's hereditary optic neuropathy Human Molecular Genetics . 24 (24): 6921-6931 .
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 .
1770533 Poulton, J., Deadman, M.E., Bronte-Stewart, J., Foulds, W.S., Gardiner, R.M. (1991) Analysis of mitochondrial DNA in Leber's hereditary optic neuropathy Journal of Medical Genetics . 28 (11): 765-770 .
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 .
17296905 Qi, X., Sun, L., Hauswirth, W. W., Lewin, A. S., Guy, J. (2007) Use of mitochondrial antioxidant defenses for rescue of cells with a Leber hereditary optic neuropathy-causing mutation Archives of Ophthalmology . 125 (2): 268-272 .
17197509 Qi, X., Sun, L., Lewin, A. S., Hauswirth, W. W., Guy, J. (2007) The mutant human ND4 subunit of complex I induces optic neuropathy in the mouse Investigative Ophthalmology and Visual Science . 48 (1): 1-10 .
15896721 Qian, Y., Zhou, X., Hu, Y., Tong, Y., Li, R., Lu, F., Yang, H., Mo, J. Q., Qu, J., Guan, M. X. (2005) Clinical evaluation and mitochondrial DNA sequence analysis in three Chinese families with Leber's hereditary optic neuropathy Biochemical and Biophysical Research Communications . 332 (2): 614-621 .
15707996 Qu, J., Li, R., Tong, Y., Hu, Y., Zhou, X., Qian, Y., Lu, F., Guan, M. X. (2005) Only male matrilineal relatives with Leber's hereditary optic neuropathy in a large Chinese family carrying the mitochondrial DNA G11778A mutation Biochemical and Biophysical Research Communications . 328 (4): 1139-1145 .
16431939 Qu, J., Li, R., Zhou, X., Tong, Y., Lu, F., Qian, Y., Hu, Y., Mo, J. Q., West, C. E., Guan, M. X. (2006) The novel A4435G mutation in the mitochondrial tRNAMet may modulate the phenotypic expression of the LHON-associated ND4 G11778A mutation Investigative Ophthalmology and Visual Science . 47 (2): 475-483 .
17300996 Qu, J., Li, R., Zhou, X., Tong, Y., Yang, L., Chen, J., Zhao, F., Lu, C., Qian, Y., Lu, F., Guan, M. X. (2007) Cosegregation of the ND4 G11696A mutation with the LHON-associated ND4 G11778A mutation in a four generation Chinese family Mitochondrion . 7 (40545): 140-146 .
20435583 Qu, J., Wang, Y., Tong, Y., Zhou, X., Zhao, F., Yang, L., Zhang, S., Zhang, J., West, C. E., Guan, M. X. (2010) Leber's hereditary optic neuropathy affects only female matrilineal relatives in two Chinese families Investigative Ophthalmology and Visual Science . 51 (10): 4906-4912 .
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 .
26959136 Rasool, N., Lessell, S., Cestari, D. M. (2016) Leber hereditary optic neuropathy: bringing the lab to the clinic Seminars in Ophthalmology . 31 (1-2): 107-116 .
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 .
20676915 Sacai, P. Y., Salomao, S. R., Carelli, V., Pereira, J. M., Belfort, R., Jr., Sadun, A. A., Berezovsky, A. (2010) Visual evoked potentials findings in non-affected subjects from a large Brazilian pedigree of 11778 Leber's hereditary optic neuropathy Documenta Ophthalmologica. Advances in Ophthalmology . 121 (2): 147-154 .
12888043 Sadun, A. A., Carelli, V., Salomao, S. R., Berezovsky, A., Quiros, P. A., Sadun, F., DeNegri, A. M., Andrade, R., Moraes, M., Passos, A., Kjaer, P., Pereira, J., Valentino, M. L., Schein, S., Belfort, R. (2003) Extensive investigation of a large Brazilian pedigree of 11778/haplogroup J Leber hereditary optic neuropathy American Journal of Ophthalmology . 136 (2): 231-238 .
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 .
34584057 Sahel, J. A., Newman, N. J., Yu-Wai-Man, P., Vignal-Clermont, C., Carelli, V., Biousse, V., Moster, M. L., Sergott, R., Klopstock, T., Sadun, A. A., Blouin, L., Katz, B., Taiel, M. (2021) Gene therapies for the treatment of Leber hereditary optic neuropathy International Ophthalmology Clinics . 61 (4): 195-208 .
7814218 Salmaggi, A., Carrara, F., Zeviani, M. (1994) Remarkable recovery of visual function in a patient with Leber's optic neuropathy and multiple mutations of mitochondrial DNA International Journal of Neuroscience . 77 (40606): 261-266 .
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 .
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 .
4003041 Seedorff, T. (1985) The inheritance of Leber's disease. A genealogical follow-up study Acta Ophthalmologica (Copenhagen) 63 (2): 135-145
19247386 Seo, J. H., Hwang, J. M., Park, S. S. (2010) Comparison of retinal nerve fibre layers between 11778 and 14484 mutations in Leber's hereditary optic neuropathy Eye (London) . 24 (1): 107-111 .
11162998 Shaikh, S., Ta, C., Basham, A. A., Mansour, S. (2001) Leber hereditary optic neuropathy associated with antiretroviral therapy for human immunodeficiency virus infection American Journal of Ophthalmology . 131 (1): 143-145 .
18363168 Shankar, S. P., Fingert, J. H., Carelli, V., Valentino, M. L., King, T. M., Daiger, S. P., Salomao, S. R., Berezovsky, A., Belfort, R., Jr., Braun, T. A., Sheffield, V. C., Sadun, A. A., Stone, E. M. (2008) Evidence for a novel x-linked modifier locus for leber hereditary optic neuropathy Ophthalmic Genetics . 29 (1): 17-24 .
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 .
2566116 Singh, G., Lott, M.T., Wallace, D.C. (1989) A mitochondrial DNA mutation as a cause of Leber's hereditary optic neuropathy New England Journal of Medicine . 320 (20): 1300-1305 .
11331900 Smeitink, J., van den Heuvel, L., DiMauro, S. (2001) The genetics and pathology of oxidative phosphorylation Nature Reviews. Genetics . 2 (5): 342-352 .
8240102 Smith, K.H., Johns, D.R., Heher, K.L., Miller, N.R. (1993) Heteroplasmy in Leber's hereditary optic neuropathy Archives of Ophthalmology . 111 (11): 1486-1490 .
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 .
27119776 Souren, N. Y., Gerdes, L. A., Kumpfel, T., Lutsik, P., Klopstock, T., Hohlfeld, R., Walter, J. (2016) Mitochondrial DNA variation and heteroplasmy in monozygotic twins clinically discordant for multiple sclerosis Human Mutation . 37 (8): 765-775 .
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 .
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 .
1977373 Stone, E.M., Coppinger, J.M., Kardon, R.H., Donelson, J. (1990) Mae III positively detects the mitochondrial mutation associated with type I Leber's hereditary optic neuropathy Archives of Ophthalmology . 108 (10): 1417-1420 .
1532593 Stone, E.M., Newman, N.J., Miller, N.R., Johns, D.R., Lott, M.T., Wallace, D.C. (1992) Visual recovery in patients with Leber's hereditary optic neuropathy and the 11778 mutation Journal of Clinical Neuro-ophthalmology . 12 (1): 10-14 .
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 .
1352537 Sudoyo, H., Marzuki, S., Mastaglia, F., Carroll, W. (1992) Molecular genetics of Leber's hereditary optic neuropathy: study of a six-generation family from Western Australia Journal of the Neurological Sciences . 108 (1): 7-17 .
12436196 Sudoyo, H., Suryadi, H., Lertrit, P., Pramoonjago, P., Lyrawati, D., Marzuki, S. (2002) Asian-specific mtDNA backgrounds associated with the primary G11778A mutation of Leber's hereditary optic neuropathy Journal of Human Genetics . 47 (11): 594-604 .
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 .
7801223 Swartz, N., Savino, P.J. (1994) Is all nondefinable optic atrophy Leber's hereditary optic neuropathy? Survey of Ophthalmology . 39 (2): 146-150 .
17204919 Tharaphan, P., Chuenkongkaew, W. L., Luangtrakool, K., Sanpachudayan, T., Suktitipat, B., Suphavilai, R., Srisawat, C., Sura, T., Lertrit, P. (2006) Mitochondrial DNA haplogroup distribution in pedigrees of Southeast Asian G11778A Leber hereditary optic neuropathy Journal of Neuro-Ophthalmology . 26 (4): 264-267 .
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 .
10216058 Tsao, K., Aitken, P. A., Johns, D. R. (1999) Smoking as an aetiological factor in a pedigree with Leber's hereditary optic neuropathy British Journal of Ophthalmology . 83 (5): 577-581 .
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 .
29890302 Uittenbogaard, M., Brantner, C. A., Fang, Z., Wong, L. J., Gropman, A., Chiaramello, A. (2019) The m.11778 A>G variant associated with the coexistence of Leber's hereditary optic neuropathy and multiple sclerosis-like illness dysregulates the metabolic interplay between mitochondrial oxidative phosphorylation and glycolysis Mitochondrion . 46 (): 187-194 .
17460303 Ventura, D. F., Gualtieri, M., Oliveira, A. G., Costa, M. F., Quiros, P., Sadun, F., de Negri, A. M., Salomao, S. R., Berezovsky, A., Sherman, J., Sadun, A. A., Carelli, V. (2007) Male prevalence of acquired color vision defects in asymptomatic carriers of Leber's hereditary optic neuropathy Investigative Ophthalmology and Visual Science . 48 (5): 2362-2370 .
7763260 Vergani, L., Martinuzzi, A., Carelli, V., Cortelli, P., Montagna, P., Schievano, G., Carrozzo, R., Angelini, C., Lugaresi, E. (1995) MtDNA mutations associated with Leber's hereditary optic neuropathy: studies on cytoplasmic hybrid (cybrid) cells Biochemical and Biophysical Research Communications . 210 (3): 880-888 .
2757028 Vilkki, J., Savontaus, M.L., Nikoskelainen, E.K. (1989) Genetic heterogeneity in Leber hereditary optic neuroretinopathy revealed by mitochondrial DNA polymorphism American Journal of Human Genetics . 45 (2): 206-211 .
7612556 Wakakura, M., Yokoe, J. (1995) Evidence for preserved direct pupillary light response in Leber's hereditary optic neuropathy British Journal of Ophthalmology . 79 (5): 442-446 .
28233183 Wallace, D. C., Lott, M. T. (2017) Leber hereditary optic neuropathy: exemplar of an mtDNA disease Handbook of Experimental Pharmacology . 240 (): 339-376 .
3201231 Wallace, D.C., Singh, G., Lott, M.T., Hodge, J.A., Schurr, T.G., Lezza, A.M., Elsas, L.J., Nikoskelainen, E.K. (1988) Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy Science . 242 (4884): 1427-1430 .
26892229 Wan, X., Pei, H., Zhao, M. J., Yang, S., Hu, W. K., He, H., Ma, S. Q., Zhang, G., Dong, X. Y., Chen, C., Wang, D. W., Li, B. (2016) Efficacy and safety of rAAV2-ND4 treatment for Leber's hereditary optic neuropathy Scientific Reports 6 (): 21587 .
18619472 Wang, H. W., Jia, X., Ji, Y., Kong, Q. P., Zhang, Q., Yao, Y. G., Zhang, Y. P. (2008) Strikingly different penetrance of LHON in two Chinese families with primary mutation G11778A is independent of mtDNA haplogroup background and secondary mutation G13708A Mutation Research . 643 (40545): 48-53 .
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 .
8489402 Weiner, N.C., Newman, N.J., Lessell, S., Johns, D.R., Lott, M.T., Wallace, D.C. (1993) Atypical Leber's hereditary optic neuropathy with molecular confirmation Archives of Neurology . 50 (5): 470-473 .
31727544 Weissig, V. (2020) Drug development for the therapy of mitochondrial diseases Trends in Molecular Medicine 26 (1): 40-57 .
10545708 Went, L. N. (1999) Leber hereditary optic neuropathy (LHON): a mitochondrial disease with unresolved complexities Cytogenetics and Cell Genetics . 86 (2): 153-156 .
27159682 Xie, S., Zhang, J., Sun, J., Zhang, M., Zhao, F., Wei, Q. P., Tong, Y., Liu, X., Zhou, X., Jiang, P., Ji, Y., Guan, M. X. (2017) Mitochondrial haplogroup D4j specific variant m.11696G > a(MT-ND4) may increase the penetrance and expressivity of the LHON-associated m.11778G > a mutation in Chinese pedigrees Mitochondrial DNA. Part A, DNA mapping, sequencing, and analysis . 28 (3): 434-441 .
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 .
27426279 Yang, S., Ma, S. Q., Wan, X., He, H., Pei, H., Zhao, M. J., Chen, C., Wang, D. W., Dong, X. Y., Yuan, J. J., Li, B. (2016) Long-term outcomes of gene therapy for the treatment of Leber's hereditary optic neuropathy EBioMedicine . 10 (): 258-268 .
34467602 Yang, Z., Slone, J., Wang, X., Zhan, J., Huang, Y., Namjou, B., Kaufman, K. M., Pauciulo, M., Harley, J. B., Muglia, L. J., Chepelev, I., Huang, T. (2021) Validation of low-coverage whole-genome sequencing for mitochondrial DNA variants suggests mitochondrial DNA as a genetic cause of preterm birth Human Mutation ePub ahead of print, http://doi.org/10.1002/humu.24279 (): .
27749593 Yang, S., Yang, H., Ma, S. Q., Wang, S. S., He, H., Zhao, M. J., Li, B. (2016) Evaluation of Leber's hereditary optic neuropathy patients prior to a gene therapy clinical trial Medicine (Baltimore) . 95 (40): e5110 .
32277753 Yang, T. C., Yarmishyn, A. A., Yang, Y. P., Lu, P. C., Chou, S. J., Wang, M. L., Lin, T. C., Hwang, D. K., Chou, Y. B., Chen, S. J., Yu, W. K., Wang, A. G., Hsu, C. C., Chiou, S. H. (2020) Mitochondrial transport mediates survival of retinal ganglion cells in affected LHON patients Human Molecular Genetics . 29 (9): 1454-1464 .
16528519 Yao, Y. G., Salas, A., Bravi, C. M., Bandelt, H. J. (2006) A reappraisal of complete mtDNA variation in East Asian families with hearing impairment Human Genetics . 119 (5): 505-515 .
10413253 Yen, M.Y., Lee, H.C., Wang, A.G., Chang, W.L., Liu, J.H., Wei, Y.H. (1999) Exclusive homoplasmic 11778 mutation in mitochondrial DNA of Chinese patients with Leber's hereditary optic neuropathy Japanese Journal of Ophthalmology . 43 (3): 196-200 .
12185132 Yen, M. Y., Chen, C. S., Wang, A. G., Wei, Y. H. (2002) Increase of mitochondrial DNA in blood cells of patients with Leber's hereditary optic neuropathy with 11778 mutation British Journal of Ophthalmology . 86 (9): 1027-1030 .
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 .
2566021 Yoneda, M., Tsuji, S., Yamauchi, T., Inuzuka, T., Miyatake, T., Horai, S., Ozawa, T. (1989) Mitochondrial DNA mutation in family with Leber's hereditary optic neuropathy Lancet . 1 (8646): 1076-1077 .
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 .
26438859 Yu, H., Koilkonda, R. D., Chou, T. H., Porciatti, V., Mehta, A., Hentall, I. D., Chiodo, V. A., Boye, S. L., Hauswirth, W. W., Lewin, A. S., Guy, J. (2015) Consequences of zygote injection and germline transfer of mutant human mitochondrial DNA in mice Proceedings of the National Academy of Sciences of the United States of America . 112 (42): E5689-E5698 .
32516135 Yu, J., Liang, X., Ji, Y., Ai, C., Liu, J., Zhu, L., Nie, Z., Jin, X., Wang, C., Zhang, J., Zhao, F., Mei, S., Zhao, X., Zhou, X., Zhang, M., Wang, M., Huang, T., Jiang, P., Guan, M. X. (2020) PRICKLE3 linked to ATPase biogenesis manifested Leber's hereditary optic neuropathy The Journal of Clinical Investigation . 130 (9): 4935-4946 .
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/ .
22523243 Yu, H., Koilkonda, R. D., Chou, T. H., Porciatti, V., Ozdemir, S. S., Chiodo, V., Boye, S. L., Boye, S. E., Hauswirth, W. W., Lewin, A. S., Guy, J. (2012) Gene delivery to mitochondria by targeting modified adenoassociated virus suppresses Leber's hereditary optic neuropathy in a mouse model Proceedings of the National Academy of Sciences of the United States of America . 109 (20): E1238-1247 .
29649796 Yuan, J. J., Zhang, Y., Wang, L. L., Cheng, M. S., Ma, S. Q., Gao, Q., Li, B. (2018) Visual field variability after gene therapy for Leber's hereditary optic neuropathy Ophthalmic Research . 60 (3): 176-184 .
32284191 Yuan, J., Zhang, Y., Liu, H., Wang, D., Du, Y., Tian, Z., Li, X., Yang, S., Pei, H., Wan, X., Xiao, S., Song, L., Xiao, X., Sun, J., Wang, Z., Li, B. (2020) Seven-year follow-up of gene therapy for Leber's hereditary optic neuropathy Ophthalmology . 127 (8): 1125-1127 .
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 .
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 .
28093355 Yu-Wai-Man, P., Soiferman, D., Moore, D. G., Burte, F., Saada, A. (2017) Evaluating the therapeutic potential of idebenone and related quinone analogues in Leber hereditary optic neuropathy Mitochondrion . 36 (): 36-42 .
33298565 Yu-Wai-Man, P., Newman, N. J., Carelli, V., Moster, M. L., Biousse, V., Sadun, A. A., Klopstock, T., Vignal-Clermont, C., Sergott, R. C., Rudolph, G., La Morgia, C., Karanjia, R., Taiel, M., Blouin, L., Burguiere, P., Smits, G., Chevalier, C., Masonson, H., Salermo, Y., Katz, B., Picaud, S., Calkins, D. J., Sahel, J. A. (2020) Bilateral visual improvement with unilateral gene therapy injection for Leber hereditary optic neuropathy Science Translational Medicine . 12 (573): eaaz7423 .
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 .
34415266 Zaslavsky, K., Margolin, E. A. (2021) Leber's hereditary optic neuropathy in older individuals because of increased alcohol consumption during the COVID-19 pandemic Journal of Neuro-Ophthalmology . 41 (3): 316-320 .
18775412 Zhang, A. M., Jia, X., Yao, Y. G., Zhang, Q. (2008) Co-occurrence of A1555G and G11778A in a Chinese family with high penetrance of Leber's hereditary optic neuropathy Biochemical and Biophysical Research Communications . 376 (1): 221-224 .
20728388 Zhang, M., Zhou, X., Li, C., Zhao, F., Zhang, J., Yuan, M., Sun, Y. H., Wang, J., Tong, Y., Liang, M., Yang, L., Cai, W., Wang, L., Qu, J., Guan, M. X. (2010) Mitochondrial haplogroup M9a specific variant ND1 T3394C may have a modifying role in the phenotypic expression of the LHON-associated ND4 G11778A mutation Molecular Genetics and Metabolism . 101 (40577): 192-199 .
22039503 Zhang, A. M., Bandelt, H. J., Jia, X., Zhang, W., Li, S., Yu, D., Wang, D., Zhuang, X. Y., Zhang, Q., Yao, Y. G. (2011) Is mitochondrial tRNA(phe) variant m.593T>C a synergistically pathogenic mutation in Chinese LHON families with m.11778G>A? PLoS One . 6 (10): e26511 .
22110754 Zhang, A. M., Jia, X., Bi, R., Salas, A., Li, S., Xiao, X., Wang, P., Guo, X., Kong, Q. P., Zhang, Q., Yao, Y. G. (2011) Mitochondrial DNA haplogroup background affects LHON, but not suspected LHON, in Chinese patients PLoS One . 6 (11): e27750 .
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 .
30968497 Zhang, Y., Li, X., Yuan, J., Tian, Z., Liu, H., Wang, D., Li, B. (2019) Prognostic factors for visual acuity in patients with Leber's hereditary optic neuropathy after rAAV2-ND4 gene therapy Clinical and Experimental Ophthalmology . 47 (6): 774-778 .
20691156 Zhang, J., Zhou, X., Zhou, J., Li, C., Zhao, F., Wang, Y., Meng, Y., Wang, J., Yuan, M., Cai, W., Tong, Y., Sun, Y. H., Yang, L., Qu, J., Guan, M. X. (2010) Mitochondrial ND6 T14502C variant may modulate the phenotypic expression of LHON-associated G11778A mutation in four Chinese families Biochemical and Biophysical Research Communications . 399 (4): 647-653 .
34417770 Zhao, J., Zhang, Q., Wang, J. (2021) Magnetic resonance imaging findings in the pregeniculate visual pathway in Leber hereditary optic neuropathy Journal of Neuro-Ophthalmology . ePub ahead of print, http://doi.ogr/10.1097/WNO.0000000000001383 (): .
1346348 Zhu, D., Economou, E.P., Antonarakis, S.E., Maumenee, I.H. (1992) Mitochondrial DNA mutation and heteroplasmy in Type I Leber hereditary optic neuropathy American Journal of Medical Genetics . 42 (2): 173-179 .
20632027 Zoccolella, S., Petruzzella, V., Prascina, F., Artuso, L., Pacillo, F., Dell'Aglio, R., Avolio, C., Delle Noci, N., Attimonelli, M., Specchio, L. M. (2010) Late-onset Leber hereditary optic neuropathy mimicking Susac's syndrome Journal of Neurology . 257 (12): 1999-2003 .
34667002 Ueda, K., Kurimoto, T., Takano, F., Murai, Y., Mori, S., Sakamoto, M., Nagai, T., Yamada-Nakanishi, Y., Nakamura, M. (2021) Protocol to test the efficacy and safety of frequent applications of skin electrical stimulation for Leber hereditary optic neuropathy: a single-arm, open-label, non-randomised prospective study BMJ Open . 11 (10): e048814 .
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 .