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Cited by 483

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

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Man, P.Y.W., Griffiths, P.G., Brown, D.T., Howell, N., Turnbull, D.M., Chinnery, P.F.·2003·The American Journal of Human Genetics
DOI 10.1086/346066
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Show all 4 references

Research works printed but not linked: 32

  1. Andrews, 1999, Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA, Nat Genet, 23, 147, 10.1038/13779 · DOI · Paper page
  2. 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
  3. 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
  4. Bunker, 1984, Prevalence of retinitis pigmentosa in Maine, Am J Ophthalmol, 97, 357, 10.1016/0002-9394(84)90636-6 · DOI · Paper page
  5. 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
  6. 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
  7. 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
  8. 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
  9. Harding, 1995, Pedigree analysis in Leber hereditary optic neuropathy families with a pathogenic mtDNA mutation, Am J Hum Genet, 57, 77
  10. Howell, 1999, Human mitochondrial diseases: answering questions and questioning answers, Int Rev Cytol, 186, 49, 10.1016/S0074-7696(08)61051-7 · DOI
  11. Howell, 1991, Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees, Am J Hum Genet, 49, 939
  12. Howell, 1998, mtDNA mutations that cause optic neuropathy: how do we know?, Am J Hum Genet, 62, 196, 10.1086/301675 · DOI
  13. Huoponen, 1991, A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy, Am J Hum Genet, 48, 1147
  14. Johns, 1993, Leber's hereditary optic neuropathy: clinical manifestations of the 14484 mutation, Arch Ophthalmol, 111, 495, 10.1001/archopht.1993.01090040087038 · DOI
  15. 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
  16. Johns, 1992, Leber's hereditary optic neuropathy: clinical manifestations of the 3460 mutation, Arch Ophthalmol, 110, 1577, 10.1001/archopht.1992.01080230077025 · DOI
  17. 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
  18. Leber, 1871, Ueber hereditaere und congenital angelegte sehnervenleiden, Graefes Arch Ophthalmol, 17, 249, 10.1007/BF01694557 · DOI · Paper page
  19. Mackey, 1992, Leber hereditary optic neuropathy in Australia, Aust NZ J Ophthalmol, 20, 177, 10.1111/j.1442-9071.1992.tb00937.x · DOI
  20. 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
  21. Mackey, 1996, Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy, Am J Hum Genet, 59, 481
  22. 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
  23. 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
  24. 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
  25. 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
  26. 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
  27. 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
  28. 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
  29. 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
  30. 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
  31. Smith, 1993, Heteroplasmy in Leber's hereditary optic neuropathy, Arch Ophthalmol, 111, 1486, 10.1001/archopht.1993.01090110052022 · DOI
  32. 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

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)
DOI
10.1086/346066
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

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