Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation (Q36577372)

15 August 2017

Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation (English)

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mitochondrial encephalomyopathy

15 August 2017

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hypertrophic cardiomyopathy

inferred from title

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1

Ronen Spiegel

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Ann Saada

Ann Saada

2

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Laurence Bindoff

Laurence A Bindoff

10

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Patrick Yu-Wai-Man

16

Patrick Yu-Wai-Man

1 reference

15 August 2017

Robert William Taylor

9

Robert W Taylor

1 reference

15 August 2017

12

Hanna Mandel

1 reference

15 August 2017

4

Florence Burté

1 reference

15 August 2017

Padraig J Flannery

3

1 reference

15 August 2017

Devorah Soiferman

5

1 reference

15 August 2017

Morad Khayat

6

1 reference

15 August 2017

Verónica Eisner

7

1 reference

15 August 2017

Eugene Vladovski

8

1 reference

15 August 2017

Avraham Shaag

11

1 reference

15 August 2017

Ora Schuler-Furman

13

1 reference

15 August 2017

Stavit A Shalev

14

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15 August 2017

Orly Elpeleg

15

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15 August 2017

language of work or name

English

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publication date

11 November 2015

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Journal of Medical Genetics

15 August 2017

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15 August 2017

53

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15 August 2017

2

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15 August 2017

127-131

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Disturbed mitochondrial dynamics and neurodegenerative disorders

15 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752660

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

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752660

Pure and syndromic optic atrophy explained by deep intronic OPA1 mutations and an intralocus modifier

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752660

Mitochondrial complex IV deficiency, caused by mutated COX6B1, is associated with encephalomyopathy, hydrocephalus and cardiomyopathy

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752660

OPA1 mutation and late-onset cardiomyopathy: mitochondrial dysfunction and mtDNA instability

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752660

Mitochondrial targeting of human NADH dehydrogenase (ubiquinone) flavoprotein 2 (NDUFV2) and its association with early-onset hypertrophic cardiomyopathy and encephalopathy.

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752660

Mitochondrial fusion is required for mtDNA stability in skeletal muscle and tolerance of mtDNA mutations

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752660

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

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752660

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

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752660

OPA1 controls apoptotic cristae remodeling independently from mitochondrial fusion

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752660

Loss of OPA1 perturbates the mitochondrial inner membrane structure and integrity, leading to cytochrome c release and apoptosis

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752660

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

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752660

Defective mitochondrial adenosine triphosphate production in skeletal muscle from patients with dominant optic atrophy due to OPA1 mutations.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752660

Novel OPA1 missense mutation in a family with optic atrophy and severe widespread neurological disorder.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752660

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

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752660

The MFN2 gene is responsible for mitochondrial DNA instability and optic atrophy 'plus' phenotype.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752660

OPA1 links human mitochondrial genome maintenance to mtDNA replication and distribution

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752660

A novel mutation in the SCO2 gene in a neonate with early-onset cardioencephalomyopathy

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752660

A phenotypic variation of dominant optic atrophy and deafness (ADOAD) due to a novel OPA1 mutation.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752660

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

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752660

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

20 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103361

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

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26561570

12 December 2020

inferred from PubMed ID database lookup

OPA1 IN MULTIPLE MITOCHONDRIAL DNA DELETION DISORDERS

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26561570

12 December 2020

inferred from PubMed ID database lookup

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26561570

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1136/JMEDGENET-2015-103361

1 reference

15 August 2017

1 reference

15 August 2017

PubMed publication ID

26561570

1 reference