Literature DB >> 1734726

Molecular genetic analysis of a sporadic case of Leber hereditary optic neuropathy.

N Howell, D McCullough, I Bodis-Wollner.   

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Year:  1992        PMID： 1734726      PMCID： PMC1682448     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  16 in total

Review 1.  LEBER'S DISEASE IN THE NETHERLANDS.

Authors:  A H VANSENUS
Journal:  Doc Ophthalmol       Date:  1963       Impact factor: 2.379

2.  The clinical characteristics of pedigrees of Leber's hereditary optic neuropathy with the 11778 mutation.

Authors:  N J Newman; M T Lott; D C Wallace
Journal:  Am J Ophthalmol       Date:  1991-06-15       Impact factor: 5.258

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.  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

5.  A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy.

Authors:  K Huoponen; J Vilkki; P Aula; E K Nikoskelainen; M L Savontaus
Journal:  Am J Hum Genet       Date:  1991-06       Impact factor: 11.025

6.  Leber hereditary optic neuropathy: involvement of the mitochondrial ND1 gene and evidence for an intragenic suppressor mutation.

Authors:  N Howell; I Kubacka; M Xu; D A McCullough
Journal:  Am J Hum Genet       Date:  1991-05       Impact factor: 11.025

7.  An example of Leber hereditary optic neuropathy not involving a mutation in the mitochondrial ND4 gene.

Authors:  N Howell; D McCullough
Journal:  Am J Hum Genet       Date:  1990-10       Impact factor: 11.025

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.  Does sporadic Leber's disease exist?

Authors:  E Nikoskelainen; K Nummelin; M L Savontaus
Journal:  J Clin Neuroophthalmol       Date:  1988-12

10.  Rapid segregation of heteroplasmic bovine mitochondria.

Authors:  M V Ashley; P J Laipis; W W Hauswirth
Journal:  Nucleic Acids Res       Date:  1989-09-25       Impact factor: 16.971
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  10 in total

1.  Molecular epidemiology of mtDNA mutations in 903 Chinese families suspected with Leber hereditary optic neuropathy.

Authors:  Xiaoyun Jia; Shiqiang Li; Xueshan Xiao; Xiangming Guo; Qingjiong Zhang
Journal:  J Hum Genet       Date:  2006-09-14       Impact factor: 3.172

2.  When does bilateral optic atrophy become Leber hereditary optic neuropathy?

Authors:  N Howell; S Halvorson; J Burns; D A McCullough; J Paulton
Journal:  Am J Hum Genet       Date:  1993-10       Impact factor: 11.025

3.  Longitudinal study of a heteroplasmic 3460 Leber hereditary optic neuropathy family by multiplexed primer-extension analysis and nucleotide sequencing.

Authors:  S S Ghosh; E Fahy; I Bodis-Wollner; J Sherman; N Howell
Journal:  Am J Hum Genet       Date:  1996-02       Impact factor: 11.025

4.  Single-cell analysis of intercellular heteroplasmy of mtDNA in Leber hereditary optic neuropathy.

Authors:  Y Kobayashi; H Sharpe; N Brown
Journal:  Am J Hum Genet       Date:  1994-07       Impact factor: 11.025

5.  A heteroplasmic LHON family: tissue distribution and transmission of the 11778 mutation.

Authors:  N Howell; M Xu; S Halvorson; I Bodis-Wollner; J Sherman
Journal:  Am J Hum Genet       Date:  1994-07       Impact factor: 11.025

6.  Heteroplasmic point mutations in the human mtDNA control region.

Authors:  K E Bendall; V A Macaulay; J R Baker; B C Sykes
Journal:  Am J Hum Genet       Date:  1996-12       Impact factor: 11.025

7.  Mitochondrial gene segregation in mammals: is the bottleneck always narrow?

Authors:  N Howell; S Halvorson; I Kubacka; D A McCullough; L A Bindoff; D M Turnbull
Journal:  Hum Genet       Date:  1992 Sep-Oct       Impact factor: 4.132

Review 8.  Mitochondrial encephalomyopathies: clinical and molecular analysis.

Authors:  E A Schon; M Hirano; S DiMauro
Journal:  J Bioenerg Biomembr       Date:  1994-06       Impact factor: 2.945

9.  Familial identification: population structure and relationship distinguishability.

Authors:  Rori V Rohlfs; Stephanie Malia Fullerton; Bruce S Weir
Journal:  PLoS Genet       Date:  2012-02-09       Impact factor: 5.917

10.  Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck.

Authors:  Ian J Wilson; Phillipa J Carling; Charlotte L Alston; Vasileios I Floros; Angela Pyle; Gavin Hudson; Suzanne C E H Sallevelt; Costanza Lamperti; Valerio Carelli; Laurence A Bindoff; David C Samuels; Passorn Wonnapinij; Massimo Zeviani; Robert W Taylor; Hubert J M Smeets; Rita Horvath; Patrick F Chinnery
Journal:  Hum Mol Genet       Date:  2016-01-05       Impact factor: 6.150
  10 in total

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