Literature DB >> 9867707

Low-penetrance branches in matrilineal pedigrees with Leber hereditary optic neuropathy.

N Howell, D A Mackey.   

Abstract

Entities:  

Mesh:

Year:  1998        PMID: 9867707      PMCID: PMC1377511          DOI: 10.1086/302049

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


× No keyword cloud information.
  14 in total

1.  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

Review 2.  Mitochondrial optic neuropathy: In vivo model of neurodegeneration and neuroprotective strategies.

Authors:  Julio C Rojas; Francisco Gonzalez-Lima
Journal:  Eye Brain       Date:  2010-03-10

3.  Neuron-specific enolase is elevated in asymptomatic carriers of Leber's hereditary optic neuropathy.

Authors:  Kenneth M Yee; Fred N Ross-Cisneros; Jeong Goo Lee; Arlon Bastos Da Rosa; Solange R Salomao; Adriana Berezovsky; Rubens Belfort; Filipe Chicani; Milton Moraes-Filho; Jerry Sebag; Valerio Carelli; Alfredo A Sadun
Journal:  Invest Ophthalmol Vis Sci       Date:  2012-09-21       Impact factor: 4.799

Review 4.  Mitochondrial optic neuropathies - disease mechanisms and therapeutic strategies.

Authors:  Patrick Yu-Wai-Man; Philip G Griffiths; Patrick F Chinnery
Journal:  Prog Retin Eye Res       Date:  2010-11-26       Impact factor: 21.198

5.  Transmission of heteroplasmic G11778A in extensive pedigrees of Thai Leber hereditary optic neuropathy.

Authors:  Nopasak Phasukkijwatana; Wanicha L Chuenkongkaew; Rungnapa Suphavilai; Komon Luangtrakool; Bussaraporn Kunhapan; Patcharee Lertrit
Journal:  J Hum Genet       Date:  2006-10-28       Impact factor: 3.172

6.  Subclinical carriers and conversions in Leber hereditary optic neuropathy: a prospective psychophysical study.

Authors:  Alfredo A Sadun; Solange R Salomao; Adriana Berezovsky; Federico Sadun; Anna Maria Denegri; Peter A Quiros; Filipe Chicani; Dora Ventura; Piero Barboni; Jerome Sherman; Erich Sutter; Rubens Belfort; Valerio Carelli
Journal:  Trans Am Ophthalmol Soc       Date:  2006

7.  Assessing heteroplasmic load in Leber's hereditary optic neuropathy mutation 3460G->A/MT-ND1 with a real-time PCR quantitative approach.

Authors:  Anna Genasetti; Maria L Valentino; Valerio Carelli; Davide Vigetti; Manuela Viola; Evgenia G Karousou; Gian Vico Melzi d'Eril; Giancarlo De Luca; Alberto Passi; Francesco Pallotti
Journal:  J Mol Diagn       Date:  2007-07-25       Impact factor: 5.568

8.  Mutation analysis of Leber's hereditary optic neuropathy using a multi-gene panel.

Authors:  Yu Dai; Chenghui Wang; Zhipeng Nie; Jiamin Han; Ting Chen; Xiaoxu Zhao; Cheng Ai; Yanchun Ji; Tao Gao; Pingping Jiang
Journal:  Biomed Rep       Date:  2017-11-08

9.  Leber hereditary optic neuropathy: do folate pathway gene alterations influence the expression of mitochondrial DNA mutation?

Authors:  A Aleyasin; M Ghazanfari; M Houshmand
Journal:  Iran J Public Health       Date:  2010-09-30       Impact factor: 1.429

Review 10.  Inherited mitochondrial optic neuropathies.

Authors:  P Yu-Wai-Man; P G Griffiths; G Hudson; P F Chinnery
Journal:  J Med Genet       Date:  2008-11-10       Impact factor: 6.318

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.