(Q42709140)

5 November 2017

OPA1 mutations impair mitochondrial function in both pure and complicated dominant optic atrophy (English)

1 reference

5 November 2017

Michael I Trenell

2

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Patrick Yu-Wai-Man

series ordinal

1

object named as

Patrick Yu-Wai-Man

1 reference

5 November 2017

5

Patrick F Chinnery

1 reference

5 November 2017

Kieren G Hollingsworth

series ordinal

3

object named as

Kieren G Hollingsworth

1 reference

5 November 2017

4

Philip G Griffiths

1 reference

5 November 2017

language of work or name

English

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publication date

14 October 2010

1 reference

5 November 2017

1 reference

5 November 2017

134

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5 November 2017

Pt 4

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5 November 2017

e164

1 reference

OPA1 mutations cause cytochrome c oxidase deficiency due to loss of wild-type mtDNA molecules

5 November 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069699

The prevalence and natural history of dominant optic atrophy due to 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=3069699

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=3069699

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=3069699

Inherited mitochondrial 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=3069699

OPA1 mutations and mitochondrial DNA damage: keeping the magic circle in shape

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069699

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=3069699

Aerobic exercise and muscle metabolism in patients with mitochondrial myopathy

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069699

The diagnosis of mitochondrial muscle disease.

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069699

Phosphorus MR spectroscopy shows a tissue specific in vivo distribution of biochemical expression of the G3460A mutation in Leber's hereditary optic neuropathy

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069699

Java-based graphical user interface for MRUI, a software package for quantitation of in vivo/medical magnetic resonance spectroscopy signals

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069699

Pilot study of peripheral muscle function in primary biliary cirrhosis: potential implications for fatigue pathogenesis

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069699

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=3069699

Apoptosis in mitochondrial myopathies is linked to mitochondrial proliferation

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069699

Deficit of in vivo mitochondrial ATP production in OPA1-related dominant optic atrophy

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069699

Aspects of human bioenergetics as studied in vivo by magnetic resonance spectroscopy

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069699

In vivo skeletal muscle mitochondrial function in Leber's hereditary optic neuropathy assessed by31P magnetic resonance spectroscopy

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3069699

1 December 2018

Identifiers

DOI

10.1093/BRAIN/AWQ288

1 reference

5 November 2017

1 reference

5 November 2017

PubMed publication ID

20952381

1 reference