| 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 |
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