Literature DB >> 9199577

Disease relevance of the so-called secondary Leber hereditary optic neuropathy mutations.

S Hofmann, R Bezold, M Jaksch, P Kaufhold, B Obermaier-Kusser, K D Gerbitz.   

Abstract

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Year:  1997        PMID： 9199577      PMCID： PMC1716111          DOI： 10.1016/S0002-9297(07)64248-7

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


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  14 in total

1.  Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy.

Authors:  M D Brown; A S Voljavec; M T Lott; A Torroni; C C Yang; D C Wallace
Journal:  Genetics       Date:  1992-01       Impact factor: 4.562

2.  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

3.  Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy.

Authors:  D A Mackey; R J Oostra; T Rosenberg; E Nikoskelainen; J Bronte-Stewart; J Poulton; A E Harding; G Govan; P A Bolhuis; S Norby
Journal:  Am J Hum Genet       Date:  1996-08       Impact factor: 11.025

4.  mtDNA and the origin of Caucasians: identification of ancient Caucasian-specific haplogroups, one of which is prone to a recurrent somatic duplication in the D-loop region.

Authors:  A Torroni; M T Lott; M F Cabell; Y S Chen; L Lavergne; D C Wallace
Journal:  Am J Hum Genet       Date:  1994-10       Impact factor: 11.025

5.  Features of mtDNA mutation patterns in European pedigrees and sporadic cases with Leber hereditary optic neuropathy.

Authors:  B Obermaier-Kusser; B Lorenz; S Schubring; A Paprotta; K Zerres; T Meitinger; F Meire; P Cochaux; A Blankenagel; G Kommerell
Journal:  Am J Hum Genet       Date:  1994-11       Impact factor: 11.025

6.  Linkage of Wolfram syndrome to chromosome 4p16.1 and evidence for heterogeneity.

Authors:  D A Collier; T G Barrett; D Curtis; A Macleod; M J Arranz; J A Maassen; S Bundey
Journal:  Am J Hum Genet       Date:  1996-10       Impact factor: 11.025

7.  Detection of the mtDNA 14484 mutation on an African-specific haplotype: implications about its role in causing Leber hereditary optic neuropathy.

Authors:  A Torroni; V Carelli; M Petrozzi; M Terracina; P Barboni; P Malpassi; D C Wallace; R Scozzari
Journal:  Am J Hum Genet       Date:  1996-07       Impact factor: 11.025

8.  Phylogenetic analysis of Leber's hereditary optic neuropathy mitochondrial DNA's indicates multiple independent occurrences of the common mutations.

Authors:  M D Brown; A Torroni; C L Reckord; D C Wallace
Journal:  Hum Mutat       Date:  1995       Impact factor: 4.878

9.  Linkage of the gene for Wolfram syndrome to markers on the short arm of chromosome 4.

Authors:  M H Polymeropoulos; R G Swift; M Swift
Journal:  Nat Genet       Date:  1994-09       Impact factor: 38.330

10.  Phylogenetic analysis of the mitochondrial genomes from Leber hereditary optic neuropathy pedigrees.

Authors:  N Howell; I Kubacka; S Halvorson; B Howell; D A McCullough; D Mackey
Journal:  Genetics       Date:  1995-05       Impact factor: 4.562
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  5 in total

1.  Leber's hereditary optic neuropathy with 14484 mutation in Central Java, Indonesia.

Authors:  Tomoki Nishioka; Mamoru Tasaki; Augustinus Soemantri; Marbaniati Dyat; J C Susanto; Moedrik Tamam; Bambang Sudarmanto; Takafumi Ishida
Journal:  J Hum Genet       Date:  2003-06-24       Impact factor: 3.172

2.  Heteroplasmic mutations of the mitochondrial genome cause paradoxical effects on mitochondrial functions.

Authors:  Chengkang Zhang; Vincent H Huang; Mariella Simon; Lokendra K Sharma; Weiwei Fan; Richard Haas; Douglas C Wallace; Yidong Bai; Taosheng Huang
Journal:  FASEB J       Date:  2012-08-27       Impact factor: 5.191

3.  Specific polymorphic variation in the mitochondrial genome and increased in-hospital mortality after severe trauma.

Authors:  Jeffrey A Canter; Patrick R Norris; Jason H Moore; Judith M Jenkins; John A Morris
Journal:  Ann Surg       Date:  2007-09       Impact factor: 12.969

4.  Mitochondrial DNA mutations in cancer.

Authors:  Stefanie Zanssen; Eric A Schon
Journal:  PLoS Med       Date:  2005-11-29       Impact factor: 11.069

5.  Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber's hereditary optic neuropathy.

Authors:  Leonardo Caporali; Luisa Iommarini; Chiara La Morgia; Anna Olivieri; Alessandro Achilli; Alessandra Maresca; Maria Lucia Valentino; Mariantonietta Capristo; Francesca Tagliavini; Valentina Del Dotto; Claudia Zanna; Rocco Liguori; Piero Barboni; Michele Carbonelli; Veronica Cocetta; Monica Montopoli; Andrea Martinuzzi; Giovanna Cenacchi; Giuseppe De Michele; Francesco Testa; Anna Nesti; Francesca Simonelli; Anna Maria Porcelli; Antonio Torroni; Valerio Carelli
Journal:  PLoS Genet       Date:  2018-02-14       Impact factor: 5.917
  5 in total

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