Literature DB >> 11756592

ANT1, Twinkle, POLG, and TP: new genes open our eyes to ophthalmoplegia.

M Hirano, S DiMauro.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2001        PMID： 11756592     DOI： 10.1212/wnl.57.12.2163

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


× No keyword cloud information.
  13 in total

1.  Diagnostic value of mitochondrial DNA mutation analysis in juvenile unilateral ptosis.

Authors:  Thorsten Okulla; Wolfram S Kunz; Thomas Klockgether; Rolf Schröder; Cornelia Kornblum
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  2004-10-13       Impact factor: 3.117

2.  Impairment of mitochondrial tRNAIle processing by a novel mutation associated with chronic progressive external ophthalmoplegia.

Authors:  A Schaller; R Desetty; D Hahn; C B Jackson; J-M Nuoffer; S Gallati; L Levinger
Journal:  Mitochondrion       Date:  2011-02-01       Impact factor: 4.160

3.  Twinkle mutations in two Chinese families with autosomal dominant progressive external ophthalmoplegia.

Authors:  Kunqian Ji; Kaiming Liu; Pengfei Lin; Bing Wen; Yue-Bei Luo; Yuying Zhao; Chuanzhu Yan
Journal:  Neurol Sci       Date:  2013-10-04       Impact factor: 3.307

4.  Two families with autosomal dominant progressive external ophthalmoplegia.

Authors:  S Kiechl; R Horváth; P Luoma; U Kiechl-Kohlendorfer; B Wallacher-Scholz; R Stucka; C Thaler; J Wanschitz; A Suomalainen; M Jaksch; J Willeit
Journal:  J Neurol Neurosurg Psychiatry       Date:  2004-08       Impact factor: 10.154

5.  Activated satellite cells are present in uninjured extraocular muscles of mature mice.

Authors:  Linda K McLoon; Jonathan Wirtschafter
Journal:  Trans Am Ophthalmol Soc       Date:  2002

Review 6.  Progressive External Ophthalmoplegia.

Authors:  Collin McClelland; Georgios Manousakis; Michael S Lee
Journal:  Curr Neurol Neurosci Rep       Date:  2016-06       Impact factor: 5.081

7.  Mitochondrial DNA defects and selective extraocular muscle involvement in CPEO.

Authors:  Laura C Greaves; Patrick Yu-Wai-Man; Emma L Blakely; Kim J Krishnan; Nina E Beadle; Jamie Kerin; Martin J Barron; Philip G Griffiths; Alison J Dickinson; Douglass M Turnbull; Robert W Taylor
Journal:  Invest Ophthalmol Vis Sci       Date:  2010-02-17       Impact factor: 4.799

Review 8.  Inherited eye-related disorders due to mitochondrial dysfunction.

Authors:  Patrick Yu-Wai-Man; Nancy J Newman
Journal:  Hum Mol Genet       Date:  2017-08-01       Impact factor: 6.150

9.  A new POLG1 mutation with peo and severe axonal and demyelinating sensory-motor neuropathy.

Authors:  L Santoro; F Manganelli; R Lanzillo; A Tessa; F Barbieri; F Pierelli; G Di Giacinto; V Nigro; F M Santorelli
Journal:  J Neurol       Date:  2006-05-24       Impact factor: 4.849

10.  Mitochondrial and nuclear genes of mitochondrial components in cancer.

Authors:  E Kirches
Journal:  Curr Genomics       Date:  2009-06       Impact factor: 2.236
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.