Genetic screening for OPA1 and OPA3 mutations in patients with suspected inherited optic neuropathies (Q34605409)

3 August 2017

title

Genetic screening for OPA1 and OPA3 mutations in patients with suspected inherited optic neuropathies (English)

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3 August 2017

1

Patrick Yu-Wai-Man

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3 August 2017

Suma P Shankar

2

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3 August 2017

Valérie Biousse

3

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3 August 2017

Neil R Miller

4

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3 August 2017

Lora J H Bean

5

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3 August 2017

Bradford Coffee

6

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3 August 2017

Madhuri Hegde

7

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3 August 2017

Nancy J Newman

8

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3 August 2017

publication date

30 October 2010

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3 August 2017

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3 August 2017

volume

118

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3 August 2017

issue

3

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3 August 2017

page(s)

558-563

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The prevalence and natural history of dominant optic atrophy due to OPA1 mutations

3 August 2017

cites work

1 reference

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Multi-system neurological disease is common in patients with OPA1 mutations

7 July 2018

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Initiation codon mutation in betaB1-crystallin (CRYBB1) associated with autosomal recessive nuclear pulverulent cataract.

7 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3044822

OPA1 functions in mitochondria and dysfunctions in optic nerve.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3044822

Acute and late-onset optic atrophy due to a novel OPA1 mutation leading to a mitochondrial coupling defect

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3044822

Inherited mitochondrial optic neuropathies

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3044822

Resolving the clinical acuity categories "hand motion" and "counting fingers" using the Freiburg Visual Acuity Test (FrACT).

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3044822

OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3044822

OPA3 mutation screening in patients with unexplained 3-methylglutaconic aciduria.

7 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3044822

Molecular genetic basis of primary inherited optic neuropathies.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3044822

OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3044822

Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis

7 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3044822

The epidemiology of Leber hereditary optic neuropathy in the North East of England

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3044822

Is normal tension glaucoma actually an unrecognized hereditary optic neuropathy? New evidence from genetic analysis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3044822

A comprehensive survey of mutations in the OPA1 gene in patients with autosomal dominant optic atrophy

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3044822

Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3044822

Disc excavation in dominant optic atrophy: differentiation from normal tension glaucoma

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3044822

Proper method for calculating average visual acuity.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3044822

The clinical features and classification of the late onset autosomal dominant cerebellar ataxias. A study of 11 families, including descendants of the 'the Drew family of Walworth'.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3044822

An initiator codon mutation in ornithine-delta-aminotransferase causing gyrate atrophy of the choroid and retina

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3044822

A familial syndrome of infantile optic atrophy, movement disorder, and spastic paraplegia

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3044822

Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3044822

Genomic rearrangements in OPA1 are frequent in patients with autosomal dominant optic atrophy.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3044822

Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3044822

Autosomal Dominant Optic Atrophy: Penetrance and Expressivity in Patients With OPA1 Mutations

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3044822

Leber's hereditary optic neuropathy with childhood onset

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3044822

Influence of mutation type on clinical expression of Leber hereditary optic neuropathy.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3044822

eOPA1: an online database for OPA1 mutations

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3044822

Novel mutation at the initiation codon in the Norrie disease gene in two Japanese families.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3044822

Cytochrome b mutations in Leber hereditary optic neuropathy

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3044822

Ophthalmologic findings in Leber hereditary optic neuropathy, with special reference to mtDNA mutations

26 October 2018

1 reference

12 December 2020

Hereditary optic neuropathies

1 reference

12 December 2020

Visual acuities "hand motion" and "counting fingers" can be quantified with the freiburg visual acuity test

1 reference

12 December 2020

OPA1 mutations and mitochondrial DNA haplotypes in autosomal dominant optic atrophy

1 reference

12 December 2020

X-linked retinoschisis: novel mutation in the initiation codon of the XLRS1 gene in a large family

1 reference

12 December 2020

Comprehensive cDNA study and quantitative transcript analysis of mutant OPA1 transcripts containing premature termination codons

1 reference

12 December 2020

Reversible optic neuropathy with OPA1 exon 5b mutation

1 reference

12 December 2020

Targeted comparative genomic hybridization array for the detection of single- and multiexon gene deletions and duplications

1 reference

12 December 2020

10.1016/J.OPHTHA.2010.07.029

Identifiers

DOI

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3 August 2017

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3 August 2017

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