Literature DB >> 8659531

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

A Torroni, V Carelli, M Petrozzi, M Terracina, P Barboni, P Malpassi, D C Wallace, R Scozzari.   

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Year:  1996        PMID： 8659531      PMCID： PMC1915130     

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


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  23 in total

1.  Southeast Asian mitochondrial DNA analysis reveals genetic continuity of ancient mongoloid migrations.

Authors:  S W Ballinger; T G Schurr; A Torroni; Y Y Gan; J A Hodge; K Hassan; K H Chen; D C Wallace
Journal:  Genetics       Date:  1992-01       Impact factor: 4.562

2.  A variant of Leber hereditary optic neuropathy characterized by recovery of vision and by an unusual mitochondrial genetic etiology.

Authors:  D Mackey; N Howell
Journal:  Am J Hum Genet       Date:  1992-12       Impact factor: 11.025

3.  An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy.

Authors:  D R Johns; M J Neufeld; R D Park
Journal:  Biochem Biophys Res Commun       Date:  1992-09-30       Impact factor: 3.575

4.  Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees.

Authors:  N Howell; L A Bindoff; D A McCullough; I Kubacka; J Poulton; D Mackey; L Taylor; D M Turnbull
Journal:  Am J Hum Genet       Date:  1991-11       Impact factor: 11.025

5.  Asian affinities and continental radiation of the four founding Native American mtDNAs.

Authors:  A Torroni; T G Schurr; M F Cabell; M D Brown; J V Neel; M Larsen; D G Smith; C M Vullo; D C Wallace
Journal:  Am J Hum Genet       Date:  1993-09       Impact factor: 11.025

6.  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

7.  Sequence and organization of the human mitochondrial genome.

Authors:  S Anderson; A T Bankier; B G Barrell; M H de Bruijn; A R Coulson; J Drouin; I C Eperon; D P Nierlich; B A Roe; F Sanger; P H Schreier; A J Smith; R Staden; I G Young
Journal:  Nature       Date:  1981-04-09       Impact factor: 49.962

Review 8.  Leber's hereditary optic neuropathy. New genetic considerations.

Authors:  N J Newman
Journal:  Arch Neurol       Date:  1993-05

9.  Leber's hereditary optic neuropathy. Clinical manifestations of the 14484 mutation.

Authors:  D R Johns; K L Heher; N R Miller; K H Smith
Journal:  Arch Ophthalmol       Date:  1993-04

10.  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
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  5 in total

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

Authors:  S Hofmann; R Bezold; M Jaksch; P Kaufhold; B Obermaier-Kusser; K D Gerbitz
Journal:  Am J Hum Genet       Date:  1997-06       Impact factor: 11.025

Review 2.  Leber hereditary optic neuropathy: how do mitochondrial DNA mutations cause degeneration of the optic nerve?

Authors:  N Howell
Journal:  J Bioenerg Biomembr       Date:  1997-04       Impact factor: 2.945

3.  Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484.

Authors:  A Torroni; M Petrozzi; L D'Urbano; D Sellitto; M Zeviani; F Carrara; C Carducci; V Leuzzi; V Carelli; P Barboni; A De Negri; R Scozzari
Journal:  Am J Hum Genet       Date:  1997-05       Impact factor: 11.025

4.  Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background.

Authors:  Gavin Hudson; Valerio Carelli; Liesbeth Spruijt; Mike Gerards; Catherine Mowbray; Alessandro Achilli; Angela Pyle; Joanna Elson; Neil Howell; Chiara La Morgia; Maria Lucia Valentino; Kirsi Huoponen; Marja-Liisa Savontaus; Eeva Nikoskelainen; Alfredo A Sadun; Solange R Salomao; Rubens Belfort; Philip Griffiths; Patrick Yu-Wai-Man; Rene F M de Coo; Rita Horvath; Massimo Zeviani; Hubert J T Smeets; Antonio Torroni; Patrick F Chinnery
Journal:  Am J Hum Genet       Date:  2007-06-04       Impact factor: 11.025

5.  The role of mitochondrial haplogroups in glaucoma: a study in an Arab population.

Authors:  Khaled K Abu-Amero; Jose Morales; Thomas M Bosley; Gamal H Mohamed; Vicente M Cabrera
Journal:  Mol Vis       Date:  2008-03-13       Impact factor: 2.367
  5 in total

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