MITOMAP References for Mutation T-C at 14484

Download PMID list

Index PMID Date Reference
1 2018041 1991 Howell, N., Kubacka, I., Xu, M., McCullough, D. A. (1991) Leber hereditary optic neuropathy: involvement of the mitochondrial ND1 gene and evidence for an intragenic suppressor mutation American Journal of Human Genetics . 48 (5): 935-942 .
2 1417830 1992 Johns, D. R., Neufeld, M. J., Park, R. D. (1992) An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy Biochemical and Biophysical Research Communications . 187 (3): 1551-1557 .
3 1463007 1992 Mackey, D., Howell, N. (1992) A variant of Leber hereditary optic neuropathy characterized by recovery of vision and by an unusual mitochondrial genetic etiology American Journal of Human Genetics . 51 (6): 1218-1228 .
4 1732158 1992 Brown, M.D., Voljavec, A.S., Lott, M.T., Torroni, A., Yang, C.-C., Wallace, D.C. (1992) Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy Genetics . 130 (1): 163-173 .
5 8213820 1993 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 .
6 8470982 1993 Johns, D. R., Heher, K. L., Miller, N. R., Smith, K. H. (1993) Leber's hereditary optic neuropathy. Clinical manifestations of the 14484 mutation Archives of Ophthalmology . 111 (4): 495-498 .
7 7770132 1994 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 .
8 7821467 1994 Mackey, D.A. (1994) Three subgroups of patients from the United Kingdom with Leber hereditary optic neuropathy Eye . 8 (Pt 4): 431-436 .
9 7853025 1994 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 .
10 7877803 1994 Hrynchak, P. K., Spafford, M. M. (1994) Visual recovery in a patient with Leber hereditary optic neuropathy and the 14484 mutation Optometry and Vision Science . 71 (10): 604-612 .
11 7977345 1994 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 .
12 8071952 1994 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 .
13 7599218 1995 Savontaus, M.L. (1995) mtDNA mutations in Leber's hereditary optic neuropathy Biochimica et Biophysica Acta . 1271 (1): 261-263 .
14 7603534 1995 Ishikawa, S., Ichibe, Y., Yokoe, J., Wakakura, M. (1995) Leber's hereditary optic neuropathy among Japanese Muscle and Nerve . 3 (9): S85-S89 .
15 7604366 1995 Hedges, T.R., Sedwick, L.A., Newman, N.J. (1995) Two brothers with bilateral optic neuropathy Survey of Ophthalmology . 39 (5): 417-424 .
16 7611298 1995 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 .
17 7612556 1995 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 .
18 7635294 1995 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 .
19 7735876 1995 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 .
20 7760326 1995 Riordan-Eva, P., Harding, A.E. (1995) Leber's hereditary optic neuropathy: the clinical relevance of different mitochondrial DNA mutations Journal of Medical Genetics . 32 (2): 81-87 .
21 7823072 1995 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 .
22 8533781 1995 Cock, H. R., Cooper, J. M., Schapira, A. H. (1995) The 14484 ND6 mtDNA mutation in Leber hereditary optic neuropathy does not affect fibroblast complex I activity American Journal of Human Genetics . 57 (6): 1501-1502 .
23 8582049 1995 Jaksch, M., Gerbitz, K. D., Kilger, C. (1995) Screening for mitochondrial DNA (mtDNA) point mutations using nonradioactive single strand conformation polymorphism (SSCP) analysis Clinical Biochemistry . 28 (5): 503-509 .
24 8680405 1995 Brown, M.D., Torroni, A., Reckord, C.L., Wallace, D.C. (1995) Phylogenetic analysis of Leber's hereditary optic neuropathy mitochondrial DNA's indicates multiple independent occurrences of the common mutations Human Mutation . 6 (4): 311-325 .
25 8659512 1996 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 .
26 8659531 1996 Torroni, A., Carelli, V., Petrozzi, M., Terracina, M., Barboni, P., Malpassi, P., Wallace, D. C., Scozzari, R. (1996) Detection of the mtDNA 14484 mutation on an African-specific haplotype: implications about its role in causing Leber hereditary optic neuropathy American Journal of Human Genetics . 59 (1): 248-252 .
27 8742999 1996 Chan, C., Mackey, D. A., Byrne, E. (1996) Sporadic Leber hereditary optic neuropathy in Australia and New Zealand Australian and New Zealand Journal of Ophthalmology . 24 (1): 7-14 .
28 8755941 1996 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 .
29 8931573 1996 Charlmers, R. M., Harding, A. E. (1996) A case-control study of Leber's hereditary optic neuropathy Brain . 119 (Pt 5): 1481-1486 .
30 8941270 1996 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 .
31 9012411 1997 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 .
32 9150158 1997 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 .
33 9177303 1997 Wissinger, B., Besch, D., Baumann, B., Fauser, S., Christ-Adler, M., Jurklies, B., Zrenner, E., Leo-Kottler, B. (1997) Mutation analysis of the ND6 gene in patients with Lebers hereditary optic neuropathy Biochemical and Biophysical Research Communications . 234 (2): 511-515 .
34 9302261 1997 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 .
35 9339703 1997 Biousse, V., Brown, M.D., Newman, N.J., Allen, J.C., Rosenfeld, J., Meola, G., Wallace, D.C. (1997) De novo 14484 mitochondrial DNA mutation in monozygotic twins discordant for Leber's hereditary optic neuropathy Neurology . 49 (4): 1136-1138 .
36 9412783 1997 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 .
37 9484365 1998 Macmillan, C., Kirkham, T., Fu, K., Allison, V.,ermann, E., Chitayat, D., Fortier, D., Gans, M., Hare, H., Quercia, N., Zackon, D., Shoubridge, E.A. (1998) Pedigree analysis of French Canadian families with T14484C Leber's hereditary optic neuropathy Neurology . 50 (2): 417-422 .
38 9561832 1998 Mashima, Y., Yamada, K., Wakakura, M., Kigasawa, K., Kudoh, J., Shimizu, N., Oguchi, Y. (1998) Spectrum of pathogenic mitochondrial DNA mutations and clinical features in Japanese families with Leber's hereditary optic neuropathy Current Eye Research . 17 (4): 403-408 .
39 9852675 1998 Matsumoto, M., Hayasaka, S., Hotta, Y., Fujiki, K., Fujimaki, T., Takeda, M., Ishida, N., Endo, S., Kanai, A. (1998) Mitochondrial DNA mutations in Japanese patients with optic neuropathy unassociated with a mutation at nucleotide position 11,778 Journal of Human Genetics . 43 (4): 242-245 .
40 10072046 1999 Carelli, V., Ghelli, A., Bucchi, L., Montagna, P., De Negri, A., Leuzzi, V., Carducci, C., Lenaz, G., Lugaresi, E., Degli Esposti, M. (1999) Biochemical features of mtDNA 14484 (ND6/M64V) point mutation associated with Leber's hereditary optic neuropathy Annals of Neurology . 45 (3): 320-328 .
41 10426138 1999 Brown, M. D. (1999) The enigmatic relationship between mitochondrial dysfunction and Leber's hereditary optic neuropathy Journal of the Neurological Sciences . 165 (1): 1-5 .
42 10520236 1999 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 .
43 10545708 1999 Went, L. N. (1999) Leber hereditary optic neuropathy (LHON): a mitochondrial disease with unresolved complexities Cytogenetics and Cell Genetics . 86 (2): 153-156 .
44 10631164 2000 Macmillan, C., Johns, T. A., Fu, K., Shoubridge, E. A. (2000) Predominance of the T14484C mutation in French-Canadian families with Leber hereditary optic neuropathy is due to a founder effect American Journal of Human Genetics . 66 (1): 332-335 .
45 10976107 2000 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 .
46 11001192 2000 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 .
47 11124301 2000 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 .
48 11331900 2001 Smeitink, J., van den Heuvel, L., DiMauro, S. (2001) The genetics and pathology of oxidative phosphorylation Nature Reviews. Genetics . 2 (5): 342-352 .
49 11339587 2001 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 .
50 11450909 2001 Warner, J. E., Ries, K. M. (2001) Optic neuropathy in a patient with AIDS Journal of Neuro-ophthalmology . 21 (2): 92-94 .
51 11504997 2001 Luzhansky, J. Z., Pierce, A. B., Hoy, J. F., Hall, A. J. (2001) Leber's hereditary optic neuropathy in the setting of nucleoside analogue toxicity AIDS . 15 (12): 1588-1589 .
52 11523562 2001 Huoponen, K. (2001) Leber hereditary optic neuropathy: clinical and molecular genetic findings Neurogenetics . 3 (3): 119-125 .
53 11579587 2001 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 .
54 11754070 2001 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 .
55 11853713 2002 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 .
56 11938495 2002 Herrnstadt, C., Elson, J. L., Fahy, E., Preston, G., Turnbull, D. M., Anderson, C., Ghosh, S. S., Olefsky, J. M., Beal, M. F., Davis, R. E., Howell, N. (2002) Reduced-median-network analysis of complete mitochondrial DNA coding-region sequences for the major African, Asian, and European haplogroups American Journal of Human Genetics . 70 (5): 1152-1171 .
57 12112086 2002 Valentino, M. L., Avoni, P., Barboni, P., Pallotti, F., Rengo, C., Torroni, A., Bellan, M., Baruzzi, A., Carelli, V. (2002) Mitochondrial DNA nucleotide changes C14482G and C14482A in the ND6 gene are pathogenic for Leber's hereditary optic neuropathy Annals of Neurology . 51 (6): 774-778 .
58 12205655 2002 Funalot, B., Reynier, P., Vighetto, A., Ranoux, D., Bonnefont, J. P., Godinot, C., Malthiery, Y., Mas, J.L. (2002) Leigh-like encephalopathy complicating Leber's hereditary optic neuropathy Annals of Neurology . 52 (3): 374-377 .
59 12379308 2002 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 .
60 12436196 2002 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 .
61 12464728 2002 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 .
62 12464729 2002 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 .
63 16120317 2002 Chinnery, P. F. (2002) Inheritance of mitochondrial disorders Mitochondrion . 2 (40545): 149-55 .
64 12446713 2003 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 .
65 12518276 2003 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 .
66 12638016 2003 Kim, J. Y., Hwang, J. M., Chang, B. L., Park, S. S. (2003) Spectrum of the mitochondrial DNA mutations of Leber's hereditary optic neuropathy in Koreans Journal of Neurology . 250 (3): 278-281 .
67 12711217 2003 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 .
68 12724691 2003 Mackey, D. A., Fingert, J. H., Luzhansky, J. Z., McCluskey, P. J., Howell, N., Hall, A. J., Pierce, A. B., Hoy, J. F. (2003) Leber's hereditary optic neuropathy triggered by antiretroviral therapy for human immunodeficiency virus Eye . 17 (3): 312-317 .
69 12749053 2003 Howell, N., Herrnstadt, C., Shults, C., Mackey, D. A. (2003) Low penetrance of the 14484 LHON mutation when it arises in a non- haplogroup J mtDNA background American Journal of Medical Genetics . 119A (2): 147-151 .
70 12807863 2003 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 .
71 12827453 2003 Nishioka, T., Tasaki, M., Soemantri, A., Dyat, M., Susanto, J. C., Tamam, M., Sudarmanto, B., Ishida, T. (2003) Leber's hereditary optic neuropathy with 14484 mutation in Central Java, Indonesia Journal of Human Genetics . 48 (7): 385-389 .
72 15033723 2003 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 .
73 14671420 2004 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 .
74 14748908 2004 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 .
75 15060117 2004 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 .
76 15126312 2004 Houshmand, M., Sharifpanah, F., Tabasi, A., Sanati, M. H., Vakilian, M., Lavasani, S. H., Joughehdoust, S. (2004) Leber's hereditary optic neuropathy: the spectrum of mitochondrial DNA mutations in Iranian patients Annals of the New York Academy of Sciences . 1011 (-): 345-349 .
77 15272763 2004 Chuenkongkaew, W., Lertrit, P., Suphavilai, R. (2004) Case report: A Thai patient with Leber's hereditary optic neuropathy linked to mitochondrial DNA 14484 mutation The Southeast Asian Journal of Tropical Medicine and Public Health . 35 (1): 167-168 .
78 15282179 2004 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 .
79 15282189 2004 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 .
80 15342361 2004 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 .
81 15467980 2004 Palanichamy, M. G., Sun, C., Agrawal, S., Bandelt, H. J., Kong, Q. P., Khan, F., Wang, C. Y., Chaudhuri, T. K., Palla, V., Zhang, Y. P. (2004) Phylogeny of mitochondrial DNA macrohaplogroup N in India, based on complete sequencing: implications for the peopling of South Asia American Journal of Human Genetics . 75 (6): 966-978 .
82 15548492 2004 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 .
83 15635488 2004 Nishioka, T., Soemantri, A., Ishida, T. (2004) mtDNA/nDNA ratio in 14484 LHON mitochondrial mutation carriers Journal of Human Genetics . 49 (12): 701-705 .
84 16120433 2004 Herrnstadt, C., Howell, N. (2004) An evolutionary perspective on pathogenic mtDNA mutations: haplogroup associations of clinical disorders Mitochondrion . 4 (40669): 791-798 .
85 15483043 2005 Kovacs, G. G., Hoftberger, R., Majtenyi, K., Horvath, R., Barsi, P., Komoly, S., Lassmann, H., Budka, H., Jakab, G. (2005) Neuropathology of white matter disease in Leber's hereditary optic neuropathy Brain . 128 (Pt 1): 35-41 .
86 15629831 2005 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 .
87 15629832 2005 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 .
88 15720387 2005 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 .
89 15883259 2005 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 .
90 15954041 2005 Laberge, A. M., Jomphe, M., Houde, L., Vezina, H., Tremblay, M., Desjardins, B., Labuda, D., St-Hilaire, M., Macmillan, C., Shoubridge, E. A., Brais, B. (2005) A "Fille du Roy" introduced the T14484C Leber hereditary optic neuropathy mutation in French Canadians American Journal of Human Genetics . 77 (2): 313-317 .
91 16050984 2005 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 .
92 16083845 2005 Newman, N. J. (2005) Hereditary optic neuropathies: from the mitochondria to the optic nerve American Journal of Ophthalmology . 140 (3): 517-523 .
93 16380918 2005 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
94 15972314 2006 Mitchell, A. L., Elson, J. L., Howell, N., Taylor, R. W., Turnbull, D. M. (2006) Sequence variation in mitochondrial complex I genes: mutation or polymorphism? Journal of Medical Genetics . 43 (2): 175-179 .
95 16523671 2006 Volod'ko, N. V., L'Vova, M. A., Starikovskaya, E. B., Derbeneva, O. A., Bychkov, I. Y., Mikhailovskaya, I. E., Pogozheva, I. V., Fedotov, F. F., Soyan, G. V., Procaccio, V., Wallace, D. C., Sukernik, R. I. (2006) [Spectrum of pathogenic mtDNA mutations in Leber's hereditary optic neuropathy families from Siberia] Genetika (Russian Journal of Genetics) . 42 (1): 76-83 .
96 16532388 2006 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 .
97 16564802 2006 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 .
98 16806060 2006 Sun, Y. H., Wei, Q. P., Zhou, X., Qian, Y., Zhou, J., Lu, F., Qu, J., Guan, M. X. (2006) Leber's hereditary optic neuropathy is associated with the mitochondrial ND6 T14484C mutation in three Chinese families Biochemical and Biophysical Research Communications . 347 (1): 221-225 .
99 16829155 2006 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 .
100 16972023 2006 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 .
101 17122117 2006 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 .
102 17292333 2007 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 .
103 17334960 2007 Cardaioli, E., Da Pozzo, P., Gallus, G. N., Franceschini, R., Rufa, A., Dotti, M. T., Caporossi, A., Federico, A. (2007) Leber's hereditary optic neuropathy associated with cocaine, ecstasy and telithromycin consumption Journal of Neurology . 254 (2): 255-256 .
104 17403843 2007 Debray, F. G., Lambert, M., Chevalier, I., Robitaille, Y., Decarie, J. C., Shoubridge, E. A., Robinson, B. H., Mitchell, G. A. (2007) Long-term outcome and clinical spectrum of 73 pediatric patients with mitochondrial diseases Pediatrics . 119 (4): 722-733 .
105 17406640 2007 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 .
106 17452034 2007 Wei, Q. P., Zhou, X., Yang, L., Sun, Y. H., Zhou, J., Li, G., Jiang, R., Lu, F., Qu, J., Guan, M. X. (2007) The coexistence of mitochondrial ND6 T14484C and 12S rRNA A1555G mutations in a Chinese family with Leber's hereditary optic neuropathy and hearing loss Biochemical and Biophysical Research Communications . 357 (4): 910-916 .
107 17479363 2007 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 .
108 17886296 2007 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 .
109 17899121 2007 Leo-Kottler, B., Jagle, H., Kupker, T., Schimpf, S. (2007) [How to distinguish between autosomal dominant optic atrophy and Leber's hereditary optic neuropathy] Die Ophthalmologie . 104 (12): 1060-1065 .
110 17942074 2007 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 .
111 17894548 2008 Patsi, J., Kervinen, M., Finel, M., Hassinen, I. E. (2008) Leber hereditary optic neuropathy mutations in the ND6 subunit of mitochondrial complex I affect ubiquinone reduction kinetics in a bacterial model of the enzyme Biochemical Journal . 409 (1): 129-137 .
112 18070226 2008 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 .
113 18214789 2008 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 .
114 18235013 2008 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 .
115 18320530 2008 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 .
116 18344382 2008 Parry-Jones, A. R., Mitchell, J. D., Gunarwardena, W. J., Shaunak, S. (2008) Leber's hereditary optic neuropathy associated with multiple sclerosis: Harding's syndrome Practical Neurology . 8 (2): 118-121 .
117 18402672 2008 Alvarez-Iglesias, V., Barros, F., Carracedo, A., Salas, A. (2008) Minisequencing mitochondrial DNA pathogenic mutations [METHODS] BMC Medical Genetics . 9 (-): 26 .
118 18440284 2008 Zhang, S., Wang, L., Hao, Y., Wang, P., Hao, P., Yin, K., Wang, Q. K., Liu, M. (2008) T14484C and T14502C in the mitochondrial ND6 gene are associated with Leber's hereditary optic neuropathy in a Chinese family Mitochondrion . 8 (3): 205-210 .
119 18674747 2008 Elliott, H. R., Samuels, D. C., Eden, J. A., Relton, C. L., Chinnery, P. F. (2008) Pathogenic mitochondrial DNA mutations are common in the general population American Journal of Human Genetics . 83 (2): 254-260 .
120 18806273 2008 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 .
121 19001017 2009 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 .
122 19047048 2009 Porcelli, A. M., Angelin, A., Ghelli, A., Mariani, E., Martinuzzi, A., Carelli, V., Petronilli, V., Bernardi, P., Rugolo, M. (2009) Respiratory complex I dysfunction due to mitochondrial DNA mutations shifts the voltage threshold for opening of the permeability transition pore toward resting levels The Journal of Biological Chemistry . 284 (4): 2045-2052 .
123 19098324 2009 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 .
124 19255150 2009 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 .
125 19268652 2009 Carelli, V., La Morgia, C., Valentino, M. L., Barboni, P., Ross-Cisneros, F. N., Sadun, A. A. (2009) Retinal ganglion cell neurodegeneration in mitochondrial inherited disorders Biochimica et Biophysica Acta . 1787 (5): 518-528 .
126 19319978 2009 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 .
127 19370763 2009 Dobrowolski, S. F., Gray, J., Miller, T., Sears, M. (2009) Identifying sequence variants in the human mitochondrial genome using high-resolution melt (HRM) profiling Human Mutation (Online) . 30 (6): 891-898 .
128 19394449 2009 Yang, J., Zhu, Y., Tong, Y., Zhang, Z., Chen, L., Chen, S., Cao, Z., Liu, C., Xu, J., Ma, X. (2009) The novel G10680A mutation is associated with complete penetrance of the LHON/T14484C family Mitochondrion . 9 (4): 273-278 .
129 19525327 2009 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 .
130 19710181 2009 Newman, N. J. (2009) Leber hereditary optic neuropathy: bad habits, bad vision? Brain . 132 (Pt 9): 2306-2308 .
131 19800080 2009 Palace, J. (2009) Multiple sclerosis associated with Leber's hereditary optic neuropathy Journal of the Neurological Sciences . 286 (40545): 24-27 .
132 19936068 2009 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 .
133 19247386 2010 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 .
134 19733221 2010 Qu, J., Zhou, X., Zhao, F., Liu, X., Zhang, M., Sun, Y. H., Liang, M., Yuan, M., Liu, Q., Tong, Y., Wei, Q. P., Yang, L., Guan, M. X. (2010) Low penetrance of Leber's hereditary optic neuropathy in ten Han Chinese families carrying the ND6 T11484C mutation Biochimica et Biophysica Acta . 1800 (3): 305-312 .
135 20064630 2010 Nishigaki, Y., Ueno, H., Coku, J., Koga, Y., Fujii, T., Sahashi, K., Nakano, K., Yoneda, M., Nonaka, M., Tang, L., Liou, C. W., Paquis-Flucklinger, V., Harigaya, Y., Ibi, T., Goto, Y., Hosoya, H., DiMauro, S., Hirano, M., Tanaka, M. (2010) Extensive screening system using suspension array technology to detect mitochondrial DNA point mutations [METHODS] Mitochondrion . 10 (3): 300-308 .
136 20074547 2010 Mishmar, D., Zhidkov, I. (2010) Evolution and disease converge in the mitochondrion Biochimica et Biophysica Acta . 1797 (40701): 1099-1104 .
137 20123042 2010 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 .
138 20211598 2010 Tonska, K., Kodron, A., Bartnik, E. (2010) Genotype-phenotype correlations in Leber hereditary optic neuropathy Biochimica et Biophysica Acta . 1797 (40701): 1119-1123 .
139 20471050 2010 Fraser, J. A., Biousse, V., Newman, N. J. (2010) The neuro-ophthalmology of mitochondrial disease Survey of Ophthalmology . 55 (4): 299-334 .
140 20491810 2010 Seo, J. H., Hwang, J. M., Park, S. S. (2010) Antituberculosis medication as a possible epigenetic factor of Leber's hereditary optic neuropathy Clinical and Experimental Ophthalmology . 38 (4): 363-366 .
141 20599858 2010 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 .
142 20628600 2010 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 .
143 20809775 2010 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 .
144 20976138 2010 Yu, D., Jia, X., Zhang, A. M., Li, S., Zou, Y., Zhang, Q., Yao, Y. G. (2010) Mitochondrial DNA sequence variation and haplogroup distribution in Chinese patients with LHON and m.14484T>C PLoS One . 5 (10): e13426 .
145 21067478 2010 Bosley, T. M., Abu-Amero, K. K. (2010) Assessing mitochondrial DNA nucleotide changes in spontaneous optic neuropathies Ophthalmic Genetics . 31 (4): 163-172 .
146 20943885 2011 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 .
147 21253496 2011 Koilkonda, R. D., Guy, J. (2011) Leber's hereditary optic neuropathy - gene therapy: from benchtop to bedside Journal of Ophthalmology . 2011 (-): 179412 .
148 21397051 2011 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 .
149 21457906 2011 Pereira, L., Soares, P., Radivojac, P., Li, B., Samuels, D. C. (2011) Comparing phylogeny and the predicted pathogenicity of protein variations reveals equal purifying selection across the global human mtDNA diversity American Journal of Human Genetics . 88 (4): 433-439 .
150 21685233 2011 La Russa, A., Cittadella, R., Andreoli, V., Valentino, P., Trecroci, F., Caracciolo, M., Gallo, O., Gambardella, A., Quattrone, A. (2011) Leber's hereditary optic neuropathy associated with a multiple-sclerosis-like picture in a man Multiple Sclerosis Journal . 17 (6): 763-766 .
151 21694444 2011 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 .
152 21788663 2011 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 .
153 21810891 2011 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 .
154 21859767 2011 Newman, N. J. (2011) Treatment of Leber hereditary optic neuropathy Brain . 134 (Pt 9): 2447-2450 .
155 21928272 2011 Mascialino, B., Leinonen, M., Meier, T. (2011) Meta-analysis of the prevalence of Leber hereditary optic neuropathy mtDNA mutations in Europe European Journal of Ophthalmology . 22 (3): 461-465 .
156 22194643 2011 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 .
157 21887510 2012 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 .
158 22258525 2012 van der Walt, E. M., Smuts, I., Taylor, R. W., Elson, J. L., Turnbull, D. M., Louw, R., van der Westhuizen, F. H. (2012) Characterization of mtDNA variation in a cohort of South African paediatric patients with mitochondrial disease European Journal of Human Genetics . 20 (6): 650-656 .
159 22410442 2012 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 .
160 22749828 2012 Guo, H., Zhuang, X. Y., Zhang, A. M., Zhang, W., Yuan, Y., Guo, L., Yu, D., Liu, J., Yang, D. K., Yao, Y. G. (2012) Presence of mutation m.14484T>C in a Chinese family with maternally inherited essential hypertension but no expression of LHON Biochimica et Biophysica Acta . 1822 (10): 1535-1543 .
161 23063736 2013 Cui, G., Ding, H., Xu, Y., Li, B., Wang, D. W. (2013) Applications of the method of high resolution melting analysis for diagnosis of Leber's disease and the three primary mutation spectrum of LHON in the Han Chinese population Gene . 512 (1): 108-12 .
162 23111160 2013 Hao, X. D., Yang, Y. L., Tang, N. L., Kong, Q. P., Wu, S. F., Zhang, Y. P. (2013) Mitochondrial DNA haplogroup Y is associated to Leigh syndrome in Chinese population Gene . 512 (2): 460-463 .
163 23665487 2013 Zhang, J., Zhao, F., Fu, Q., Liang, M., Tong, Y., Liu, X., Lin, B., Mi, H., Zhang, M., Wei, Q. P., Xue, L., Jiang, P., Zhou, X., Mo, J., Huang, T., Qu, J., Guan, M. X. (2013) Mitochondrial haplotypes may modulate the phenotypic manifestation of the LHON-associated m.14484T > C (MT-ND6) mutation in Chinese families Mitochondrion . 13 (6): 772-781 .
164 23674761 2013 Khan, N. A., Govindaraj, P., Soumittra, N., Srilekha, S., Ambika, S., Vanniarajan, A., Meena, A. K., Uppin, M. S., Sundaram, C., Taly, A. B., Bindu, P. S., Gayathri, N., Thangaraj, K. (2013) Haplogroup heterogeneity of LHON patients carrying the m.14484T>C mutation in India Investigative Ophthalmology and Visual Science . 54 (6): 3999-4005 .
165 24369379 2014 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 .
166 24398099 2014 Liang, M., Jiang, P., Li, F., Zhang, J., Ji, Y., He, Y., Xu, M., Zhu, J., Meng, X., Zhao, F., Tong, Y., Liu, X., Sun, Y., Zhou, X., Mo, J. Q., Qu, J., Guan, M. X. (2014) Frequency and spectrum of mitochondrial ND6 mutations in 1218 Han Chinese subjects with Leber's hereditary optic neuropathy Investigative Ophthalmology and Visual Science . 55 (3): 1321-1331 .
167 24508359 2014 Jancic, J., Dejanovic, I., Samardzic, J., Radovanovic, S., Pepic, A., Kosanovic-Jakovic, N., Cetkovic, M., Kostic, V. (2014) Leber hereditary optic neuropathy in the population of Serbia European Journal of Paediatric Neurology . 18 (3): 354-359 .
168 25192510 2014 Haas, R. H., Zolkipli, Z. (2014) Mitochondrial disorders affecting the nervous system Seminars in Neurology . 32 (3): 321-340 .
169 25338955 2014 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 .
170 25053773 2015 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 .
171 25909222 2015 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 .
172 26404827 2015 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 .
173 26605371 2015 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 .
174 NA 2016 van Oven, M., Kayser, M. (2016) . http://www.phylotree.org . Variants appear in tree, sequence(s) available. Phylotree (Build 17): 18 Feb .
175 27071925 2016 Lyseng-Williamson, K. A. (2016) Idebenone: a review in Leber's hereditary optic neuropathy Drugs . 76 (7): 805-813 .
176 27127184 2016 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 .
177 27177320 2016 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 .
178 27582625 2016 Miranda, P. M., Matilde da Silva-Costa, S., Balieiro, J. C., Fernandes, M. S., Alves, R. M., Guerra, A. T., Marcondes, A. M., Sartorato, E. L. (2016) Multiplex MALDI-TOF MS detection of mitochondrial variants in Brazilian patients with hereditary optic neuropathy Molecular Vision . 22 (): 1024-1035 .
179 27741086 2016 Webber, A. L. (2016) Vision recovery despite retinal ganglion cell loss in Leber's Hereditary Optic Neuropathy Optometry and Vision Science . 93 (12): 1571-1577 .
180 27746671 2016 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 .
181 27803870 2016 Guo, D. Y., Wang, X. W., Hong, N., Gu, Y. S. (2016) A meta-analysis of the association between different genotypes (G11778A, T14484C and G3460A) of Leber hereditary optic neuropathy and visual prognosis International Journal of Ophthalmology . 9 (10): 1493-1498 .
182 28040497 2016 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 .
183 27721048 2017 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 .
184 27787713 2017 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 .
185 27847334 2017 Jankauskaite, E., Bartnik, E., Kodron, A. (2017) Investigating Leber's hereditary optic neuropathy: Cell models and future perspectives Mitochondrion . 32 (): 19-26 .
186 28233183 2017 Wallace, D. C., Lott, M. T. (2017) Leber hereditary optic neuropathy: exemplar of an mtDNA disease Handbook of Experimental Pharmacology . 240 (): 339-376 .
187 28314831 2017 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 .
188 28392196 2017 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 .
189 28455970 2017 Wong, R. C. B., Lim, S. Y., Hung, S. S. C., Jackson, S., Khan, S., Van Bergen, N. J., De Smit, E., Liang, H. H., Kearns, L. S., Clarke, L., Mackey, D. A., Hewitt, A. W., Trounce, I. A., Pebay, A. (2017) Mitochondrial replacement in an iPSC model of Leber's hereditary optic neuropathy Aging (Albany NY) . 9 (4): 1341-1350 .
190 28481993 2017 Yu-Wai-Man, P., Newman, N. J. (2017) Inherited eye-related disorders due to mitochondrial dysfunction Human Molecular Genetics . 26 (R1): R12-R20 .
191 28716668 2017 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 .
192 28761322 2017 Martins, F. T. A., Miranda, P., Fernandes, M. S. A., Maciel-Guerra, A. T., Sartorato, E. L. (2017) Optimization of a genotyping screening based on hydrolysis probes to detect the main mutations related to Leber hereditary optic neuropathy (LHON) Molecular Vision . 23 (): 495-503 .
193 28944608 2017 Kalinska-Bienias, A., Pollak, A., Kowalewski, C., Lechowicz, U., Stawinski, P., Gergont, A., Kosinska, J., Pronicka, E., Kowalski, P., Wozniak, K., Ploski, R. (2017) Coexistence of mutations in keratin 10 (KRT10) and the mitochondrial genome in a patient with ichthyosis with confetti and Leber's hereditary optic neuropathy American Journal of Medical Genetics. Part A . 173 (11): 3093-3097 .
194 28991104 2017 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 .
195 29133642 2017 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 .
196 29189152 2017 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 .
197 29253894 2017 Wei, W., Gomez-Duran, A., Hudson, G., Chinnery, P. F. (2017) Background sequence characteristics influence the occurrence and severity of disease-causing mtDNA mutations PLoS Genetics . 13 (12): e1007126 .
198 29249004 2018 Bursle, C., Riney, K., Stringer, J., Moore, D., Gole, G., Kearns, L. S., Mackey, D. A., Coman, D. (2018) Leber hereditary optic neuropathy and longitudinally extensive transverse myelitis JIMD Reports . 42 (): 53-60 .
199 29336589 2018 Celie, B. M., Mariman, A., Boone, J., Delesie, L., Tobback, E., Seneca, S., De Paepe, B., Vogelaers, D., Van Coster, R. N., Bourgois, J. G. (2018) Near-infrared spectroscopy screening to allow detection of pathogenic mitochondrial DNA variants in individuals with unexplained abnormal fatigue: a preliminary study Applied Spectroscopy . 72 (5): 715-724 .
200 29387390 2018 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 .
201 29428506 2018 Ganetzky, R. D., Falk, M. J. (2018) 8-year retrospective analysis of intravenous arginine therapy for acute metabolic strokes in pediatric mitochondrial disease Molecular Genetics and Metabolism . 123 (3): 301-308 .
202 29454364 2018 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 .
203 29980632 2018 Hirano, M., Emmanuele, V., Quinzii, C. M. (2018) Emerging therapies for mitochondrial diseases Essays in Biochemistry . 62 (3): 467-481 .
204 29983856 2018 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 .
205 29996615 2018 Sun, Y., Lei, K., Xu, Z. L., Geng, Y. (2018) [A study of clinical and genetic characteristics of a Leber hereditary optic neuropathy family with the heteroplasmic m.14484T>C mutation] Zhonghua Yan Ke Za Zhi . 54 (7): 526-534 .
206 30008192 2018 Kim, U. S., Jurkute, N., Yu-Wai-Man, P. (2018) Leber hereditary optic neuropathy - light at the end of the tunnel? Asia-Pacific Journal of Ophthalmology . 7 (4): 242-245 .
207 30369864 2018 Chinnery, P. F., Gomez-Duran, A. (2018) Oldies but goldies mtDNA population variants and neurodegenerative diseases Frontiers in Neuroscience . 12 (): 682 .
208 28994349 2019 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 .
209 30081212 2019 Kogachi, K., Ter-Zakarian, A., Asanad, S., Sadun, A., Karanjia, R. (2019) Toxic medications in Leber's hereditary optic neuropathy Mitochondrion 46 (): 270-277 .
210 30201499 2019 Guo, H., Li, S., Dai, L., Huang, X., Yu, T., Yin, Z., Bai, Y. (2019) Genetic analysis in a cohort of patients with hereditary optic neuropathies in Southwest of China Mitochondrion . 46 (): 327-333 .
211 30712826 2019 Orssaud, C., Bidot, S., Lamirel, C., Bremond Gignac, D., Touitou, V., Vignal, C. (2019) [Raxone in the Leber optical neuropathy: Parisian experience] J Fr Ophtalmol . 42 (3): 269-275 .
212 30822445 2019 Parisi, V., Ziccardi, L., Sadun, F., De Negri, A. M., La Morgia, C., Barbano, L., Carelli, V., Barboni, P. (2019) Functional changes of retinal ganglion cells and visual pathways in patients with chronic Leber's hereditary optic neuropathy during one year of follow-up Ophthalmology . 126 (7): 1033-1044 .
213 30881859 2019 Asanad, S., Meer, E., Tian, J. J., Fantini, M., Nassisi, M., Sadun, A. A. (2019) Leber's hereditary optic neuropathy: Severe vascular pathology in a severe primary mutation Intractable and Rare Diseasea Research . 8 (1): 52-55 .
214 31040363 2019 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 .
215 31482278 2019 Pemp, B., Kircher, K., Reitner, A. (2019) Visual function in chronic Leber's hereditary optic neuropathy during idebenone treatment initiated 5 to 50 years after onset Graefes Archive for Clincial and Experimental Ophthalmology . 257 (12): 2751-2757 .
216 31566038 2019 Dokrungkoon, T., Onsod, P., Areesirisuk, P., Rerkamnuaychoke, B., Vanikieti, K., Chareonsirisuthigul, T. (2019) Performance of the MLPA technique for detecting common mutations in Leber hereditary optic neuropathy Mitochondrial DNA. Part A, DNA Mapping, Sequencing, and Analysis . 30 (8): 819-824 .
217 31605306 2019 Karaarslan, C. (2019) Leber's hereditary optic neuropathy as a promising disease for gene therapy development Advances in Therapy . 36 (12): 3299-3307 .
218 31619779 2019 Hudson, G., Takeda, Y., Herbert, M. (2019) Reversion after replacement of mitochondrial DNA [Comment on Kang et al. 2016 Nature. doi.org/10.1038/nature20592] Nature . 574 (7778): E8-E11 .
219 31619780 2019 Kang, E., Koski, A., Amato, P., Temiakov, D., Mitalipov, S. (2019) Reply to: Reversion after replacement of mitochondrial DNA [Hudson et al. 2019. doi.org/10.1038/s41586-019-1623-3] Nature . 574 (7778): E12-E13 .
220 31817256 2019 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 .
221 31776719 2020 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 .
222 31932089 2020 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 .
223 32105823 2020 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 .
224 32111141 2020 Zhao, X., Zhang, Y., Lu, L., Yang, H. (2020) Therapeutic effects of idebenone on Leber hereditary optic neuropathy Current Eye Research . 45 (10): 1315-1323 .
225 32220313 2020 Russell, O. M., Gorman, G. S., Lightowlers, R. N., Turnbull, D. M. (2020) Mitochondrial diseases: hope for the future Cell . 181 (1): 168-188 .
226 32704028 2020 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 .
227 32861874 2020 Marotta, R., Chin, J., Chiotis, M., Shuey, N., Collins, S. J. (2020) Long-term screening for primary mitochondrial DNA variants associated with Leber hereditary optic neuropathy: incidence, penetrance and clinical features Mitochondrion . 54 (): 128-132 .
228 32991388 2020 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 .
229 32991883 2020 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 .
230 33101779 2020 Yu, H., Sant, D. W., Wang, G., Guy, J. (2020) Mitochondrial transfer of the mutant human ND6T14484C gene causes visual loss and optic neuropathy Translational Vision Science and Technology . 9 (11): 1 .
231 33584522 2020 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 .
232 NA 2021 Tun, K. K. Z., Toosaranont, J., Kaewsutthi, S., Grove, H., Ruchadaariyachat, S., Suthammarak, W., Chuenkongkaew, W., Lertrit, P., Suktitipat, B., Mitrpant, C. (2021) Transcriptome and whole genome sequencing profiles in Leber’s hereditary optic neuropathy 14484T>C mutation carrying monozygotic twins reveal that prostanoid receptor is a possible modifier for LHON manifestation Human Genomics (under review) . Preprint, http://doi.org/10.21203/rs.3.rs-604500/v1 (): .
233 20301353 2021 Yu-Wai-Man, P., Chinnery, P. F. (2021) Leber hereditary optic neuropathy [updated 2021 Mar 11] GeneReviews® M. P. Adam, H. H. Ardinger, R. A. Pagon, S. E. Wallace, L. J. H. Bean, G. Mirza, A. Amemiya (): https://www.ncbi.nlm.nih.gov/books/NBK1174/ .
234 33095398 2021 Rovcanin, B., Jancic, J., Pajic, J., Rovcanin, M., Samardzic, J., Djuric, V., Nikolic, B., Ivancevic, N., Novakovic, I., Kostic, V. (2021) Oxidative stress profile in genetically confirmed cases of Leber's Hereditary Optic Neuropathy Journal of Molecular Neuroscience . 71 (5): 1070-1081 .
235 33159657 2021 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 .
236 33360266 2021 Cleaver, J., Morrison, H., Reynolds, G., James, R., Palace, J., Chohan, G. (2021) Late-onset Leber's hereditary optic neuropathy presenting with longitudinally extensive myelitis harbouring the m.14484T>C mutation: Extending the genotype-phenotype spectrum Multiple Sclerosis and Related Disorders . 48 (): 102688 .
237 33477675 2021 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 .
238 33552719 2021 Ding, Y., Zhuo, G., Guo, Q., Li, M. (2021) Leber's hereditary optic neuropathy: the roles of mitochondrial transfer RNA variants PeerJ . 9 (): e10651 .
239 33706792 2021 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 .
240 34122299 2021 Hage, R., Vignal-Clermont, C. (2021) Leber hereditary optic neuropathy: review of treatment and management Frontiers in Neurology . 12 (): 651639 .
241 34168607 2021 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 .
242 34415266 2021 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 .
243 34573281 2021 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 .
244 34670133 2021 Lopez Sanchez, M. I. G., Kearns, L. S., Staffieri, S. E., Clarke, L., McGuinness, M. B., Meteoukki, W., Samuel, S., Ruddle, J. B., Chen, C., Fraser, C. L., Harrison, J., Hewitt, A. W., Howell, N., Mackey, D. A. (2021) Establishing risk of vision loss in Leber hereditary optic neuropathy American Journal of Human Genetics . 108 (11): 2159-2170 .
245 34673906 2021 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 .
246 34732400 2021 Schon, K. R., Horvath, R., Wei, W., Calabrese, C., Tucci, A., Ibanez, K., Ratnaike, T., Pitceathly, R. D. S., Bugiardini, E., Quinlivan, R., Hanna, M. G., Clement, E., Ashton, E., Sayer, J. A., Brennan, P., Josifova, D., Izatt, L., Fratter, C., Nesbitt, V., Barrett, T., McMullen, D. J., Smith, A., Deshpande, C., Smithson, S. F., Festenstein, R., Canham, N., Caulfield, M., Houlden, H., Rahman, S., Chinnery, P. F., Genomics England Research Consortium (2021) Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study BMJ: British Medical Journal . 375 (): e066288 .
247 34915201 2021 Chan, J. W., Sultan, W., Karanjia, R., Sadun, A. A. (2021) Altering neuronal circuitry with 4-aminopyridine for visual improvement in Leber's hereditary optic neuropathy (LHON) Mitochondrion 62 (): 181-186 .
248 33911213 2022 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 (2022) Natural history of patients with Leber hereditary optic neuropathy-results from the REALITY study Eye (London) . 36 (4): 818-826 .
249 35104579 2022 Gowri, P., Sathish, P., Mahesh Kumar, S., Sundaresan, P. (2022) Mutation profile of neurodegenerative mitochondriopathy - LHON in Southern India Gene . 819 (): 146202 .
250 35130313 2022 Al-Kafaji, G., Bakheit, H. F., AlAli, F., Fattah, M., Alhajeri, S., Alharbi, M. A., Daif, A., Alsabbagh, M. M., Alwehaidah, M. S., Bakhiet, M. (2022) Next-generation sequencing of the whole mitochondrial genome identifies functionally deleterious mutations in patients with multiple sclerosis PLoS One . 17 (): e0263606 .
251 35567411 2022 Liang, M., Ji, C., Zhang, L., Wang, X., Hu, C., Zhang, J., Zhu, Y., Mo, J. Q., Guan, M. X. (2022) Leber's hereditary optic neuropathy (LHON)-associated ND6 14 484 T > C mutation caused pleiotropic effects on the complex I, RNA homeostasis, apoptosis and mitophagy Human Molecular Genetics . 31 (19): 3299-3312 .
252 35623556 2022 Ji, Y., Zhang, J., Liang, M., Meng, F., Zhang, M., Mo, J. Q., Wang, M., Guan, M. X. (2022) Mitochondrial tRNA variants in 811 Chinese probands with Leber's hereditary optic neuropathy Mitochondrion . 65 (): 56-66 .
253 35723074 2022 Sathianvichitr, K., Sigkaman, B., Chirapapaisan, N., Laowanapiban, P., Padungkiatsagul, T., Apinyawasisuk, S., Witthayaweerasak, J., Chuenkongkaew, W. (2022) The epidemiology and mutation types of Leber's hereditary optic neuropathy in Thailand Annals of Medicine . 54 (1): 1601-1607 .
254 35773337 2022 Al-Kafaji, G., Alharbi, M. A., Alkandari, H., Salem, A. H., Bakhiet, M. (2022) Analysis of the entire mitochondrial genome reveals Leber's hereditary optic neuropathy mitochondrial DNA mutations in an Arab cohort with multiple sclerosis Scientific Reports . 12 (1): 11099 .
255 35858578 2022 Danese, A., Patergnani, S., Maresca, A., Peron, C., Raimondi, A., Caporali, L., Marchi, S., La Morgia, C., Del Dotto, V., Zanna, C., Iannielli, A., Segnali, A., Di Meo, I., Cavaliere, A., Lebiedzinska-Arciszewska, M., Wieckowski, M. R., Martinuzzi, A., Moraes-Filho, M. N., Salomao, S. R., Berezovsky, A., Belfort, R., Jr., Buser, C., Ross-Cisneros, F. N., Sadun, A. A., Tacchetti, C., Broccoli, V., Giorgi, C., Tiranti, V., Carelli, V., Pinton, P. (2022) Pathological mitophagy disrupts mitochondrial homeostasis in Leber's hereditary optic neuropathy Cell Reports . 40 (3): 111124 .
256 36051150 2022 Chuenkongkaew, W., Chinkulkitnivat, B., Lertrit, P., Chirapapaisan, N., Kaewsutthi, S., Suktitipat, B., Mitrpant, C. (2022) Clinical expression and mitochondrial deoxyribonucleic acid study in twins with 14484 Leber's hereditary optic neuropathy: a case report World Journal of Clinical Cases . 10 (20): 6944-6953 .
257 36361994 2022 Spiegel, S. J., Sadun, A. A. (2022) Solutions to a radical problem: overview of current and future treatment strategies in Leber's hereditary optic neuropathy International Journal of Molecular Sciences . 23 (21): 13205 .