Literature DB >> 7760326

Leber's hereditary optic neuropathy: the clinical relevance of different mitochondrial DNA mutations.

P Riordan-Eva1, A E Harding.   

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Year:  1995        PMID： 7760326      PMCID： PMC1050224          DOI： 10.1136/jmg.32.2.81

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  60 in total

1.  Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy.

Authors:  D R Johns; J Berman
Journal:  Biochem Biophys Res Commun       Date:  1991-02-14       Impact factor: 3.575

2.  Rapid shift in genotype of human mitochondrial DNA in a family with Leber's hereditary optic neuropathy.

Authors:  P A Bolhuis; E M Bleeker-Wagemakers; N J Ponne; M J Van Schooneveld; A Westerveld; C Van den Bogert; H F Tabak
Journal:  Biochem Biophys Res Commun       Date:  1990-08-16       Impact factor: 3.575

3.  Genetic heterogeneity and mitochondrial DNA heteroplasmy in Leber's hereditary optic neuropathy.

Authors:  I J Holt; D H Miller; A E Harding
Journal:  J Med Genet       Date:  1989-12       Impact factor: 6.318

4.  Deficiency of thiosulphate sulphurtransferase (rhodanese) in Leber's hereditary optic neuropathy.

Authors:  C J Poole; P R Kind
Journal:  Br Med J (Clin Res Ed)       Date:  1986-05-10

5.  A defect in mitochondrial electron-transport activity (NADH-coenzyme Q oxidoreductase) in Leber's hereditary optic neuropathy.

Authors:  W D Parker; C A Oley; J K Parks
Journal:  N Engl J Med       Date:  1989-05-18       Impact factor: 91.245

6.  Magnetic resonance imaging in Leber's optic neuropathy.

Authors:  A G Kermode; I F Moseley; B E Kendall; D H Miller; D G MacManus; W I McDonald
Journal:  J Neurol Neurosurg Psychiatry       Date:  1989-05       Impact factor: 10.154

7.  Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy.

Authors:  D C Wallace; G Singh; M T Lott; J A Hodge; T G Schurr; A M Lezza; L J Elsas; E K Nikoskelainen
Journal:  Science       Date:  1988-12-09       Impact factor: 47.728

8.  A mitochondrial DNA mutation as a cause of Leber's hereditary optic neuropathy.

Authors:  G Singh; M T Lott; D C Wallace
Journal:  N Engl J Med       Date:  1989-05-18       Impact factor: 91.245

9.  Variable genotype of Leber's hereditary optic neuropathy patients.

Authors:  M T Lott; A S Voljavec; D C Wallace
Journal:  Am J Ophthalmol       Date:  1990-06-15       Impact factor: 5.258

10.  Familial dystonia and visual failure with striatal CT lucencies.

Authors:  C D Marsden; A E Lang; N P Quinn; W I McDonald; A Abdallat; S Nimri
Journal:  J Neurol Neurosurg Psychiatry       Date:  1986-05       Impact factor: 10.154
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  32 in total

1.  Microphotometric analysis of NADH-tetrazolium reductase deficiency in fibroblasts of patients with Leber hereditary optic neuropathy.

Authors:  S Malik; H Sudoyo; S Marzuki
Journal:  J Inherit Metab Dis       Date:  2000-11       Impact factor: 4.982

2.  The epidemiology of Leber hereditary optic neuropathy in the North East of England.

Authors:  P Yu-Wai-Man; P G Griffiths; D T Brown; N Howell; D M Turnbull; P F Chinnery
Journal:  Am J Hum Genet       Date:  2002-01-07       Impact factor: 11.025

3.  Cardiac abnormalities in patients with Leber's hereditary optic neuropathy.

Authors:  P Sorajja; M G Sweeney; R Chalmers; B Sachdev; P Syrris; M Hanna; N D Wood; W J McKenna; P M Elliott
Journal:  Heart       Date:  2003-07       Impact factor: 5.994

4.  Sequence variation in mitochondrial complex I genes: mutation or polymorphism?

Authors:  A L Mitchell; J L Elson; N Howell; R W Taylor; D M Turnbull
Journal:  J Med Genet       Date:  2005-06-21       Impact factor: 6.318

5.  Long-term follow-up of two sisters with Leber's Hereditary Optic Neuropathy.

Authors:  Toshiyuki Yokoyama; Keiko Fujiki; Akira Murakami; Yoshihiro Hotta
Journal:  Jpn J Ophthalmol       Date:  2006 Jan-Feb       Impact factor: 2.447

6.  Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews.

Authors:  Y Anikster; R Kleta; A Shaag; W A Gahl; O Elpeleg
Journal:  Am J Hum Genet       Date:  2001-10-19       Impact factor: 11.025

Review 7.  The neuro-ophthalmology of mitochondrial disease.

Authors:  J Alexander Fraser; Valérie Biousse; Nancy J Newman
Journal:  Surv Ophthalmol       Date:  2010-05-14       Impact factor: 6.048

8.  Multiple presentation of mitochondrial disorders.

Authors:  A Nissenkorn; A Zeharia; D Lev; A Fatal-Valevski; V Barash; A Gutman; S Harel; T Lerman-Sagie
Journal:  Arch Dis Child       Date:  1999-09       Impact factor: 3.791

9.  Neuromyelitis optica (Devic's syndrome): no association with the primary mitochondrial DNA mutations found in Leber hereditary optic neuropathy.

Authors:  H Cock; R Mandler; W Ahmed; A H Schapira
Journal:  J Neurol Neurosurg Psychiatry       Date:  1997-01       Impact factor: 10.154

Review 10.  A review of primary hereditary optic neuropathies.

Authors:  M Votruba; S Aijaz; A T Moore
Journal:  J Inherit Metab Dis       Date:  2003       Impact factor: 4.982
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