The DOI matches its Crossref record; 4 of the 4 references it cites were found in a registry or an index.
The Epidemiology of Leber Hereditary Optic Neuropathy in the North East of England
Open accessOverview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
Practical Statistics for Medical Research
Altman, D. G. (1990) · doi:10.1201/9780429258589 · Cited by 10,668
Mitochondrial DNA mutation associated with Leber’s hereditary optic neuropathy
Wallace, D. C., Singh, G., Lott, M. T., Hodge, J. A., Schurr, T. G., Lezza, A. M. S., Elsas, L. J., & Nikoskelainen, E. K. (1988) · Science · doi:10.1126/science.3201231 · Cited by 2,440
Leber hereditary optic neuropathy
Man, P. Y. W., Turnbull, D. M., & Chinnery, P. F. (2002) · Journal of Medical Genetics · doi:10.1136/jmg.39.3.162 · Cited by 520
Self-citationNewman, N. J., Lott, M. T., & Wallace, D. C. (1991) · American Journal of Ophthalmology · doi:10.1016/s0002-9394(14)76784-4 · Cited by 403
Research works printed but not linked: 32
- Andrews, 1999, Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA, Nat Genet, 23, 147, 10.1038/13779 · DOI · Paper page
- Biousse, 1997, De novo 14484 mitochondrial DNA mutation in monozygotic twins discordant for Leber's hereditary optic neuropathy, Neurology, 49, 1136, 10.1212/WNL.49.4.1136 · DOI
- Black, 1996, Leber's hereditary optic neuropathy: heteroplasmy is likely to be significant in the expression of LHON in families with the 3460 ND1 mutation, Br J Ophthalmol, 80, 915, 10.1136/bjo.80.10.915 · DOI
- Bunker, 1984, Prevalence of retinitis pigmentosa in Maine, Am J Ophthalmol, 97, 357, 10.1016/0002-9394(84)90636-6 · DOI · Paper page
- Chinnery, 2001, Leber hereditary optic neuropathy: does heteroplasmy influence the inheritance and expression of the G11778A mitochondrial DNA mutation?, Am J Med Genet, 98, 235, 10.1002/1096-8628(20010122)98:3<235::AID-AJMG1086>3.0.CO;2-O · DOI
- Chinnery, 2000, The epidemiology of pathogenic mitochondrial DNA mutations, Ann Neurol, 48, 188, 10.1002/1531-8249(200008)48:2<188::AID-ANA8>3.0.CO;2-P · doi:10.1002/1531-8249(200008)48:2<188::aid-ana8>3.0.co;2-p
- Emery, 1991, Population frequencies of inherited neuromuscular diseases: a world survey, Neuromuscul Disord, 1, 19, 10.1016/0960-8966(91)90039-U · DOI · Paper page
- Fahy, 1997, Multiplex fluorescence-based primer extension method for quantitative mutation analysis of mitochondrial DNA and its diagnostic application for Alzheimer's disease, Nucleic Acids Res, 25, 3102, 10.1093/nar/25.15.3102 · doi:10.1093/nar/25.15.3102
- Harding, 1995, Pedigree analysis in Leber hereditary optic neuropathy families with a pathogenic mtDNA mutation, Am J Hum Genet, 57, 77
- Howell, 1999, Human mitochondrial diseases: answering questions and questioning answers, Int Rev Cytol, 186, 49, 10.1016/S0074-7696(08)61051-7 · DOI
- Howell, 1991, Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees, Am J Hum Genet, 49, 939
- Howell, 1998, mtDNA mutations that cause optic neuropathy: how do we know?, Am J Hum Genet, 62, 196, 10.1086/301675 · DOI
- Huoponen, 1991, A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy, Am J Hum Genet, 48, 1147
- Johns, 1993, Leber's hereditary optic neuropathy: clinical manifestations of the 14484 mutation, Arch Ophthalmol, 111, 495, 10.1001/archopht.1993.01090040087038 · DOI
- Johns, 1992, An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy, Biochem Biophys Res Commun, 187, 1551, 10.1016/0006-291X(92)90479-5 · DOI · Paper page
- Johns, 1992, Leber's hereditary optic neuropathy: clinical manifestations of the 3460 mutation, Arch Ophthalmol, 110, 1577, 10.1001/archopht.1992.01080230077025 · DOI
- Kjer, 1996, Dominant optic atrophy mapped to chromosome 3q region II Clinical and epidemiological aspects, Acta Ophthalmol Scand, 74, 3, 10.1111/j.1600-0420.1996.tb00672.x · DOI
- Leber, 1871, Ueber hereditaere und congenital angelegte sehnervenleiden, Graefes Arch Ophthalmol, 17, 249, 10.1007/BF01694557 · DOI · Paper page
- Mackey, 1992, Leber hereditary optic neuropathy in Australia, Aust NZ J Ophthalmol, 20, 177, 10.1111/j.1442-9071.1992.tb00937.x · DOI
- Mackey, 1992, A variant of Leber hereditary optic neuropathy characterized by recovery of vision and by an unusual mitochondrial genetic etiology, Am J Hum Genet, 51, 1218
- Mackey, 1996, Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy, Am J Hum Genet, 59, 481
- Macmillan, 2000, Predominance of the T14484C mutation in French-Canadian families with Leber hereditary optic neuropathy is due to a founder effect, Am J Hum Genet, 66, 332, 10.1086/302716 · DOI
- Macmillan, 1998, Pedigree analysis of French Canadian families with T14484C Leber's hereditary optic neuropathy, Neurology, 50, 417, 10.1212/WNL.50.2.417 · DOI
- Mashima, 2000, Do idebenone and vitamin therapy shorten the time to achieve visual recovery in Leber hereditary optic neuropathy?, J Neuroophthalmol, 20, 166, 10.1097/00041327-200020030-00006 · DOI
- Mashima, 1998, Spectrum of pathogenic mitochondrial DNA mutations and clinical features in Japanese families with Leber's hereditary optic neuropathy, Curr Eye Res, 17, 403, 10.1080/02713689808951221 · DOI
- Morrison, 1995, The epidemiology of Huntington's disease in Northern Ireland, J Med Genet, 32, 524, 10.1136/jmg.32.7.524 · doi:10.1136/jmg.32.7.524
- Nikoskelainen, 1996, Ophthalmologic findings in Leber hereditary optic neuropathy, with special reference to mtDNA mutations, Ophthalmology, 103, 504, 10.1016/S0161-6420(96)30665-9 · DOI
- Riordan-Eva, 1995, Leber's hereditary optic neuropathy: the clinical relevance of different mitochondrial DNA mutations, J Med Genet, 32, 81, 10.1136/jmg.32.2.81 · DOI
- Riordan-Eva, 1995, The clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation, Brain, 118, 319, 10.1093/brain/118.2.319 · DOI · Paper page
- Seedorff, 1985, The inheritance of Leber's disease: a genealogical follow-up study, Acta Ophthalmologica, 63, 135, 10.1111/j.1755-3768.1985.tb01526.x · DOI
- Smith, 1993, Heteroplasmy in Leber's hereditary optic neuropathy, Arch Ophthalmol, 111, 1486, 10.1001/archopht.1993.01090110052022 · DOI
- Vanderpump, 1995, The incidence of thyroid-disorders in the community: a twenty-year follow-up of the Whickham survey, Clin Endocrinol (Oxf), 43, 55, 10.1111/j.1365-2265.1995.tb01894.x · DOI · Paper page
Cited by
Mitochondrial optic neuropathies—Disease mechanisms and therapeutic strategies
Yu-Wai-Man, P., Griffiths, P. G., & Chinnery, P. F. (2011) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2010.11.002 · Cited by 633
Self-citationParikh, S., Goldstein, A., Koenig, M. K., Scaglia, F., Enns, G. M., Saneto, R., Anselm, I., Cohen, B. H., Falk, M. J., Greene, C., et al. (2015) · Genetics in Medicine · doi:10.1038/gim.2014.177 · Cited by 607
A randomized placebo-controlled trial of idebenone in Leber’s hereditary optic neuropathy.
Klopstock, T., Yu-Wai-Man, P., Dimitriadis, K., Rouleau, J., Heck, S., Bailie, M., Atawan, A., Chattopadhyay, S., Schubert, M., Garip, A., et al. (2011) · Brain · doi:10.1093/brain/awr170 · Cited by 578
Self-citationWill the real multiple sclerosis please stand up?
Stys, P. K., Zamponi, G. W., van Minnen, J., & Geurts, J. J. G. (2012) · Nature Reviews Neuroscience · doi:10.1038/nrn3275 · Cited by 475
Gene Therapy for Leber Hereditary Optic Neuropathy
Feuer, W. J., Schiffman, J. C., Davis, J. L., Porciatti, V., Gonzalez, P., Koilkonda, R. D., Yuan, H., Lalwani, A., Lam, B. L., & Guy, J. (2016) · Ophthalmology · doi:10.1016/j.ophtha.2015.10.025 · Cited by 230
Metadata
- Authors
- Man, P. Y. W., Griffiths, P. G., Brown, D. T., Howell, N., Turnbull, D. M., & Chinnery, P. F.
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2003-02
- Volume
- 72
- Issue
- 2
- Pages
- 333-339
- ISSN
- 0002-9297 (ISSN-L)
- OpenAlex
- W1966986920
- Cited by
- 483
- References
- 4
- FWCI
- 5.36
- Type
- journal article
- Language
- en
- Update notices
- erratum (2016-06-02)
- Open access
- bronze
- Licence
- www.elsevier.com/tdm/userlicense/1.0/ (tdm)
- www.elsevier.com/open-access/userlicense/1.0/ (vor, 3821 d)
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
Data sources
Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
