OPA1 analysis in an international series of probands with bilateral optic atrophy-Reference-Cited by-同舟云学术

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OPA1 analysis in an international series of probands with bilateral optic atrophy

Published:2016-11-17 Issue:4 Volume:95 Page:363-369
ISSN:1755-375X
Container-title:Acta Ophthalmologica
language:en
Short-container-title:Acta Ophthalmol

Author:

Liskova Petra¹²,Tesarova Marketa³,Dudakova Lubica¹,Svecova Stepanka³,Kolarova Hana³,Honzik Tomas³,Seto Sharon⁴⁵,Votruba Marcela⁴⁵

Affiliation:

1. Institute of Inherited Metabolic Disorders; First Faculty of Medicine; Charles University and General University Hospital in Prague; Prague Czech Republic

2. Department of Ophthalmology; First Faculty of Medicine; Charles University and General University Hospital in Prague; Prague Czech Republic

3. Department of Paediatrics and Adolescent Medicine; First Faculty of Medicine; Charles University and General University Hospital in Prague; Prague Czech Republic

4. Cardiff Eye Unit; University Hospital of Wales; Cardiff UK

5. School of Optometry & Vision Sciences; Cardiff University; Cardiff UK

Funder

Univerzita Karlova v Praze

Ministerstvo Zdravotnictví Ceské Republiky

Medical Research Council

Publisher

Wiley

Subject

Ophthalmology,General Medicine

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/aos.13285/fullpdf

Reference60 articles.

1. A method and server for predicting damaging missense mutations;Adzhubei;Nat Methods,2010

2. OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28;Alexander;Nat Genet,2000

3. Dominant optic atrophy in Denmark - report of 15 novel mutations in OPA1, using a strategy with a detection rate of 90%;Almind;BMC Med Genet,2012

4. OPA1 mutations induce mitochondrial DNA instability and optic atrophy ‘plus’ phenotypes;Amati-Bonneau;Brain,2008

5. OPA1-associated disorders: phenotypes and pathophysiology;Amati-Bonneau;Int J Biochem Cell Biol,2009

Cited by 9 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. OPA1 Dominant Optic Atrophy: Diagnostic Approach in the Pediatric Population;Current Issues in Molecular Biology;2023-01-05

2. Comparison of the clinical and genetic features of autosomal dominant optic atrophy and normal tension glaucoma in young Chinese adults;Eye;2022-03-10

3. Genomics combined with a protein informatics platform to assess a novel pathogenic variant c.1024 A>G (p.K342E) in OPA1 in a patient with autosomal dominant optic atrophy;Ophthalmic Genetics;2020-09-17

4. Mutation Screening of mtDNA Combined Targeted Exon Sequencing in a Cohort With Suspected Hereditary Optic Neuropathy;Translational Vision Science & Technology;2020-07-08

5. Dominant (Kjer’s) optic atrophy as sociated with mutations in OPA1 gene;Česká a slovenská neurologie a neurochirurgie;2020-01-31

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