(Q84258712)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21636302%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21636302%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

1 reference

1 reference

Christian P Schaaf

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21636302%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Maria Blazo

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21636302%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Richard Alan Lewis

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21636302%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Ross E Tonini

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21636302%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Hidehiro Takei

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21636302%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Jing Wang

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21636302%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Lee-Jun Wong

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21636302%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Fernando Scaglia

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21636302%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

publication date

7 May 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21636302%20AND%20SRC:MED&resulttype=core&format=json

Molecular Genetics and Metabolism

2 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21636302%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

volume

103

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21636302%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21636302%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

page(s)

383-387

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21636302%20AND%20SRC:MED&resulttype=core&format=json

Clinical features in affected individuals from 21 pedigrees with dominant optic atrophy

2 February 2020

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.04.018

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.04.018

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.04.018

Quantitative evaluation of the mitochondrial DNA depletion syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.04.018

Sensory ataxic neuropathy with ophthalmoparesis caused by POLG mutations

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.04.018

Mitochondrial disorder with OPA1 mutation lacking optic atrophy.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.04.018

Relationship of primary mitochondrial respiratory chain dysfunction to fiber type abnormalities in skeletal muscle

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.04.018

Mitochondrial DNA depletion in a patient with long survival

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.04.018

Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.04.018

Comprehensive cDNA study and quantitative transcript analysis of mutant OPA1 transcripts containing premature termination codons

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.04.018

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.04.018

Mitochondrial neurogastrointestinal encephalopathy due to mutations in RRM2B.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.04.018

Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.04.018

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.04.018

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.04.018

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.04.018

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.04.018

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.04.018

Mitochondrial oxidative phosphorylation in autosomal dominant optic atrophy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.04.018

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.04.018

10.1016/J.YMGME.2011.04.018

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21636302%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

1 reference