Literature DB >> 9443868

mtDNA mutations that cause optic neuropathy: how do we know?

N Howell, C Bogolin, R Jamieson, D R Marenda, D A Mackey.   

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Year:  1998        PMID： 9443868      PMCID： PMC1376802          DOI： 10.1086/301675

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


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  15 in total

1.  Persistent heteroplasmy of a mutation in the human mtDNA control region: hypermutation as an apparent consequence of simple-repeat expansion/contraction.

Authors:  N Howell; C B Smejkal
Journal:  Am J Hum Genet       Date:  2000-04-10       Impact factor: 11.025

2.  The pedigree rate of sequence divergence in the human mitochondrial genome: there is a difference between phylogenetic and pedigree rates.

Authors:  Neil Howell; Christy Bogolin Smejkal; D A Mackey; P F Chinnery; D M Turnbull; Corinna Herrnstadt
Journal:  Am J Hum Genet       Date:  2003-02-04       Impact factor: 11.025

3.  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

4.  The mtDNA-encoded ND6 subunit of mitochondrial NADH dehydrogenase is essential for the assembly of the membrane arm and the respiratory function of the enzyme.

Authors:  Y Bai; G Attardi
Journal:  EMBO J       Date:  1998-08-17       Impact factor: 11.598

Review 5.  Novel therapeutic approaches for Leber's hereditary optic neuropathy.

Authors:  Shilpa Iyer
Journal:  Discov Med       Date:  2013-03       Impact factor: 2.970

6.  The role of the Met98Lys optineurin variant in inherited optic nerve diseases.

Authors:  J E Craig; A W Hewitt; D P Dimasi; N Howell; C Toomes; A C Cohn; D A Mackey
Journal:  Br J Ophthalmol       Date:  2006-08-02       Impact factor: 4.638

Review 7.  Leber hereditary optic neuropathy.

Authors:  P Yu-Wai-Man; D M Turnbull; P F Chinnery
Journal:  J Med Genet       Date:  2002-03       Impact factor: 6.318

8.  The emerging tree of West Eurasian mtDNAs: a synthesis of control-region sequences and RFLPs.

Authors:  V Macaulay; M Richards; E Hickey; E Vega; F Cruciani; V Guida; R Scozzari; B Bonné-Tamir; B Sykes; A Torroni
Journal:  Am J Hum Genet       Date:  1999-01       Impact factor: 11.025

9.  Nuclear suppression of mitochondrial defects in cells without the ND6 subunit.

Authors:  Jian-Hong Deng; Youfen Li; Jeong Soon Park; Jun Wu; Peiqing Hu; James Lechleiter; Yidong Bai
Journal:  Mol Cell Biol       Date:  2006-02       Impact factor: 4.272

10.  Rare primary mitochondrial DNA mutations and probable synergistic variants in Leber's hereditary optic neuropathy.

Authors:  Alessandro Achilli; Luisa Iommarini; Anna Olivieri; Maria Pala; Baharak Hooshiar Kashani; Pascal Reynier; Chiara La Morgia; Maria Lucia Valentino; Rocco Liguori; Fabio Pizza; Piero Barboni; Federico Sadun; Anna Maria De Negri; Massimo Zeviani; Helene Dollfus; Antoine Moulignier; Ghislaine Ducos; Christophe Orssaud; Dominique Bonneau; Vincent Procaccio; Beate Leo-Kottler; Sascha Fauser; Bernd Wissinger; Patrizia Amati-Bonneau; Antonio Torroni; Valerio Carelli
Journal:  PLoS One       Date:  2012-08-03       Impact factor: 3.240
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