(Q33693684)

28 July 2017

title

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

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28 July 2017

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Rita Horvath

11

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Patrick Yu-Wai-Man

1

object named as

Patrick Yu-Wai-Man

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28 July 2017

12

Patrick F Chinnery

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28 July 2017

Robert William Taylor

10

object named as

Robert W Taylor

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28 July 2017

8

Gavin Hudson

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28 July 2017

9

Birgit Czermin

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28 July 2017

2

Philip G Griffiths

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28 July 2017

3

Ailbhe Burke

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28 July 2017

Peter W Sellar

4

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28 July 2017

Michael P Clarke

5

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28 July 2017

Lawrence Gnanaraj

6

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28 July 2017

Desiree Ah-Kine

7

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28 July 2017

publication date

24 April 2010

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28 July 2017

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28 July 2017

volume

117

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28 July 2017

issue

8

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28 July 2017

page(s)

1538-46, 1546.e1

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Retinal ganglion cell neurodegeneration in mitochondrial inherited disorders

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4040407

Quality of life in patients with leber hereditary optic neuropathy

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4040407

Inherited mitochondrial optic neuropathies

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4040407

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4040407

Mitochondrial dynamics in disease

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4040407

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4040407

Molecular genetic basis of primary inherited optic neuropathies.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4040407

OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4040407

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4040407

Optic disc morphology of patients with OPA1 autosomal dominant optic atrophy

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4040407

3-Methylglutaconic aciduria type III in a non-Iraqi-Jewish kindred: clinical and molecular findings

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4040407

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4040407

A frameshift mutation in exon 28 of the OPA1 gene explains the high prevalence of dominant optic atrophy in the Danish population: evidence for a founder effect

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4040407

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4040407

Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4040407

Clinical features, molecular genetics, and pathophysiology of dominant optic atrophy

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4040407

Dominant optic atrophy. The clinical profile

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4040407

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4040407

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

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4040407

The natural history of OPA1-related autosomal dominant optic atrophy

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4040407

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

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4040407

Dominant optic atrophy: correlation between clinical and molecular genetic studies.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4040407

eOPA1: an online database for OPA1 mutations

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4040407

Hereditary infantile optic atrophy with dominant transmission; preliminary report.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4040407

Autosomal dominant optic atrophy. A spectrum of disability.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4040407

Visual prognosis in autosomal dominant optic atrophy (Kjer type)

30 October 2018

1 reference

12 December 2020

Dominant optic atrophy mapped to chromosome 3q region. II. Clinical and epidemiological aspects

1 reference

12 December 2020

Clinical features in affected individuals from 21 pedigrees with dominant optic atrophy

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

10.1016/J.OPHTHA.2009.12.038

Identifiers

DOI

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28 July 2017

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28 July 2017

1 reference