(Q42875943)

9 November 2017

Reply: Early-onset Behr syndrome due to compound heterozygous mutations in OPA1. (English)

1 reference

9 November 2017

1 reference

1 reference

1

Patrick Yu-Wai-Man

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9 November 2017

2

Patrick F Chinnery

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PMC publication ID

4163031

9 November 2017

language of work or name

English

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publication date

10 July 2014

1 reference

9 November 2017

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9 November 2017

137

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9 November 2017

Pt 10

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9 November 2017

e302

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Behr's Syndrome is Typically Associated with Disturbed Mitochondrial Translation and Mutations in the C12orf65 Gene

9 November 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4163031

Early-onset Behr syndrome due to compound heterozygous mutations in OPA1

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4163031

Treatment strategies for inherited optic neuropathies: past, present and future

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4163031

Heterozygous OPA1 mutations in Behr syndrome

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4163031

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4163031

OPA1 functions in mitochondria and dysfunctions in optic nerve.

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4163031

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4163031

A splice site mutation in the murine Opa1 gene features pathology of autosomal dominant optic atrophy.

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4163031

Mitochondrial dysfunction as a cause of optic neuropathies

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4163031

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4163031

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4163031

Dominant optic atrophy: novel OPA1 mutations and revised prevalence estimates.

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4163031

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

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4163031

Dysfunctional mitochondrial maintenance: what breaks the circle of life?

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4163031

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

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4163031

Early-onset severe neuromuscular phenotype associated with compound heterozygosity for OPA1 mutations

16 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25012222

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Opa1 deficiency in a mouse model of autosomal dominant optic atrophy impairs mitochondrial morphology, optic nerve structure and visual function

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25012222

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/BRAIN/AWU187

1 reference

9 November 2017

1 reference

PMC publication ID

4163031

9 November 2017

PubMed publication ID

25012222

1 reference

PMC publication ID

4163031