The prevalence and natural history of dominant optic atrophy due to OPA1 mutations (Q33693684)

28 July 2017

title

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

1 reference

28 July 2017

1 reference

Rita Horvath

11

0 references

Patrick Yu-Wai-Man

1

object named as

Patrick Yu-Wai-Man

1 reference

28 July 2017

12

Patrick F Chinnery

1 reference

28 July 2017

Robert William Taylor

10

object named as

Robert W Taylor

1 reference

28 July 2017

8

Gavin Hudson

1 reference

28 July 2017

9

Birgit Czermin

1 reference

28 July 2017

2

Philip G Griffiths

1 reference

28 July 2017

3

Ailbhe Burke

1 reference

28 July 2017

Peter W Sellar

4

1 reference

28 July 2017

Michael P Clarke

5

1 reference

28 July 2017

Lawrence Gnanaraj

6

1 reference

28 July 2017

Desiree Ah-Kine

7

1 reference

28 July 2017

publication date

24 April 2010

1 reference

28 July 2017

1 reference

28 July 2017

volume

117

1 reference

28 July 2017

issue

8

1 reference

28 July 2017

page(s)

1538-46, 1546.e1

1 reference

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

https://pubmed.ncbi.nlm.nih.gov/20417570

12 December 2020

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20417570

12 December 2020

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20417570

12 December 2020

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20417570

12 December 2020

10.1016/J.OPHTHA.2009.12.038

Identifiers

DOI

1 reference

28 July 2017

1 reference

28 July 2017

1 reference