(Q24619312)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20157015%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20157015%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20157015%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Maria Lucia Valentino

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20157015%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Leonardo Caporali

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20157015%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Roger Whittaker

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20157015%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Mark R Baker

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20157015%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Pascal Reynier

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20157015%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Dominique Bonneau

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20157015%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Guy Lenaers

26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20157015%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Robert McFarland

27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20157015%20AND%20SRC:MED&resulttype=core&format=json

Douglass Matthew Turnbull

18 January 2020

29

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20157015%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Marcela Votruba

30

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20157015%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Valerio Carelli

32

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20157015%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Laurence Bindoff

33

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20157015%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Rita Horvath

34

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20157015%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

36

P F Chinnery

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20157015%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

1

P Yu-Wai-Man

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20157015%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

22

G Hudson

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20157015%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

author name string

P G Griffiths

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20157015%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

C M Lourenco

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20157015%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

A F Wright

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20157015%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

M Auer-Grumbach

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20157015%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

A Toscano

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20157015%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

O Musumeci

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20157015%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

C Lamperti

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20157015%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

C M Tallaksen

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20157015%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

P Duffey

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20157015%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

J Miller

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20157015%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

M J Jackson

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20157015%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

M P Clarke

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20157015%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

B Dhillon

19

1 reference

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18 January 2020

B Czermin

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20157015%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

J D Stewart

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20157015%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

W Marques

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20157015%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

R W Taylor

28

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20157015%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

M Zeviani

31

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20157015%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

P Amati-Bonneau

35

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20157015%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

language of work or name

English

0 references

publication date

15 February 2010

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20157015%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20157015%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

volume

133

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20157015%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

issue

Pt 3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20157015%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

page(s)

771-786

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20157015%20AND%20SRC:MED&resulttype=core&format=json

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

18 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2842512

The epidemiology of Leber hereditary optic neuropathy in the North East of England

7 April 2017

1 reference

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OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2842512

Oculopharyngeal muscular dystrophy: a polyalanine myopathy

7 April 2017

1 reference

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A novel deletion in the GTPase domain of OPA1 causes defects in mitochondrial morphology and distribution, but not in function

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2842512

OPA1 controls apoptotic cristae remodeling independently from mitochondrial fusion

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2842512

Mitochondrial rhomboid PARL regulates cytochrome c release during apoptosis via OPA1-dependent cristae remodeling

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2842512

WFS1/wolframin mutations, Wolfram syndrome, and associated diseases

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2842512

Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2842512

Mitochondrial respiratory-chain diseases

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2842512

Secondary mtDNA defects do not cause optic nerve dysfunction in a mouse model of dominant optic atrophy

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2842512

Mitochondrial changes within axons in multiple sclerosis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2842512

Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2842512

Inherited mitochondrial optic neuropathies

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2842512

Resolving the clinical acuity categories "hand motion" and "counting fingers" using the Freiburg Visual Acuity Test (FrACT).

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2842512

What causes mitochondrial DNA deletions in human cells?

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2842512

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2842512

Progressive external ophthalmoplegia and vision and hearing loss in a patient with mutations in POLG2 and OPA1.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2842512

155th ENMC workshop: polymerase gamma and disorders of mitochondrial DNA synthesis, 21-23 September 2007, Naarden, The Netherlands

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2842512

Inherited mitochondrial diseases of DNA replication

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2842512

The spectrum of neuromyelitis optica

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2842512

Mitochondrial DNA polymerase-gamma and human disease

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2842512

Age-dependent prevalence and clinical features of migraine

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2842512

27 September 2017

Mitochondrial disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2842512

Focus on molecules: the OPA1 protein.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2842512

The epidemiology of multiple sclerosis in Devon: a comparison of the new and old classification criteria.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2842512

A review of cochlear implantation in mitochondrial sensorineural hearing loss

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2842512

Science in motion: common molecular pathological themes emerge in the hereditary spastic paraplegias

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2842512

Migraine--current understanding and treatment

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2842512

Novel heteroplasmic mtDNA mutation in a family with heterogeneous clinical presentations

27 September 2017

1 reference

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Mitochondrial DNA--all things bad?

27 September 2017

1 reference

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Mitochondrial dynamics in disease

27 September 2017

1 reference

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Relaxed replication of mtDNA: A model with implications for the expression of disease

30 May 2018

1 reference

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Dominant optic nerve atrophy with progressive hearing loss and chronic progressive external ophthalmoplegia (CPEO).

30 May 2018

1 reference

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Occurrence of a multiple sclerosis-like illness in women who have a Leber's hereditary optic neuropathy mitochondrial DNA mutation

30 May 2018

1 reference

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Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2

30 May 2018

1 reference

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OPA1 R445H mutation in optic atrophy associated with sensorineural deafness.

28 July 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ007

A novel OPA1 mutation responsible for autosomal dominant optic atrophy with high frequency hearing loss in a Chinese family.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ007

Hereditary optic neuropathies share a common mitochondrial coupling defect.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ007

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ007

eOPA1: an online database for OPA1 mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ007

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ007

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ007

WFS1/wolframin mutations, Wolfram syndrome, and associated diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ007

Neuropathology of white matter disease in Leber's hereditary optic neuropathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ007

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ007

Investigation of mitochondrial function in hereditary spastic paraparesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ007

Mitochondrial disorder with OPA1 mutation lacking optic atrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ007

Dominant optic atrophy, sensorineural hearing loss, ptosis, and ophthalmoplegia: a syndrome caused by a missense mutation in OPA1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ007

The Charcot-Marie-Tooth type 2A gene product, Mfn2, up-regulates fuel oxidation through expression of OXPHOS system

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ007

Dominant optic atrophy: correlation between clinical and molecular genetic studies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ007

Depletion of mitochondrial DNA in leucocytes harbouring the 3243A->G mtDNA mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ007

OPA1 mutations associated with dominant optic atrophy impair oxidative phosphorylation and mitochondrial fusion

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ007

Myelin, mitochondria, and autoimmunity: What's the connection?

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ007

Sporadic optic atrophy due to synonymous codon change altering mRNA splicing of OPA1

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ007

The G401D mutation of OPA1 causes autosomal dominant optic atrophy and hearing loss in a Chinese family.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2842512

Autosomal dominant optic atrophy. A spectrum of disability.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2842512

Multiple sclerosis-like disorder in OPA1-related autosomal dominant optic atrophy

28 November 2018

1 reference

12 December 2020

Reversible optic neuropathy with OPA1 exon 5b mutation

1 reference

12 December 2020

OPA1 IN MULTIPLE MITOCHONDRIAL DNA DELETION DISORDERS

1 reference

12 December 2020

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

1 reference

12 December 2020

OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance

1 reference

12 December 2020

Effects of physical activity and age on mitochondrial function

1 reference

12 December 2020

Hereditary optic neuropathies

1 reference

12 December 2020

Optic atrophy and sensorineural hearing loss in a family caused by an R445H OPA1 mutation

1 reference

12 December 2020

OPA1 alternate splicing uncouples an evolutionary conserved function in mitochondrial fusion from a vertebrate restricted function in apoptosis

1 reference

12 December 2020

Identifiers

DOI

10.1093/BRAIN/AWQ007

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20157015%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20157015%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

2 references