Reply: Sensorineural hearing loss in OPA1-linked disorders (Q43116350)

14 November 2017

Reply: Sensorineural hearing loss in OPA1-linked disorders (English)

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sensorineural hearing loss

14 November 2017

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1

Patrick Yu-Wai-Man

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14 November 2017

2

Patrick F Chinnery

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PMCID

3692041

14 November 2017

language of work or name

English

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publication date

4 February 2013

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14 November 2017

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14 November 2017

136

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14 November 2017

Pt 7

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14 November 2017

e237

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Pattern of retinal ganglion cell loss in dominant optic atrophy due to OPA1 mutations

14 November 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3692041

Mitochondrial optic neuropathies - disease mechanisms and therapeutic strategies

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3692041

The neuro-ophthalmology of mitochondrial disease

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3692041

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3692041

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3692041

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3692041

The human OPA1delTTAG mutation induces premature age-related systemic neurodegeneration in mouse.

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3692041

OPA1 mutations associated with dominant optic atrophy influence optic nerve head size

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3692041

Mutation of OPA1 gene causes deafness by affecting function of auditory nerve terminals.

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3692041

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

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3692041

Axonal loss occurs early in dominant optic atrophy

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3692041

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

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3692041

Retinal nerve fiber layer thickness in dominant optic atrophy measurements by optical coherence tomography and correlation with age

15 August 2018

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3692041

3 November 2018

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3692041

Sensorineural hearing loss in OPA1-linked disorders.

1 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23650221

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/BRAIN/AWS341

1 reference

14 November 2017

1 reference

14 November 2017

1 reference

PMCID

3692041