(Q37340817)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19054921%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

review article

1 reference

title

Mutation of mitochondrial DNA G13513A presenting with Leigh syndrome, Wolff-Parkinson-White syndrome and cardiomyopathy (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19054921%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

0 references

1 reference

1 reference

Wolff–Parkinson–White syndrome

1 reference

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19054921%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Wuh-liang Hwu

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19054921%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Pi-Chuan Fan

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19054921%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

author name string

Shi-Bing Wang

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19054921%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Ni-Chung Lee

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19054921%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Wang-Tso Lee

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19054921%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

publication date

1 August 2008

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19054921%20AND%20SRC:MED&resulttype=core&format=json

Pediatrics and neonatology

18 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19054921%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

volume

49

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19054921%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19054921%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

page(s)

145-149

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19054921%20AND%20SRC:MED&resulttype=core&format=json

Mitochondrial cytopathies

18 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS1875-9572%2808%2960030-3

7 January 2021

The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency.

1 reference

https://api.crossref.org/works/10.1016%2FS1875-9572%2808%2960030-3

7 January 2021

Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS.

1 reference

https://api.crossref.org/works/10.1016%2FS1875-9572%2808%2960030-3

7 January 2021

Clinical and molecular findings in children with complex I deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS1875-9572%2808%2960030-3

7 January 2021

Low mutant load of mitochondrial DNA G13513A mutation can cause Leigh's disease.

1 reference

https://api.crossref.org/works/10.1016%2FS1875-9572%2808%2960030-3

7 January 2021

The mitochondrial 13513G>A mutation is most frequent in Leigh syndrome combined with reduced complex I activity, optic atrophy and/or Wolff–Parkinson–White

1 reference

https://api.crossref.org/works/10.1016%2FS1875-9572%2808%2960030-3

7 January 2021

Leigh syndrome caused by mitochondrial DNA G13513A mutation: frequency and clinical features in Japan

1 reference

https://api.crossref.org/works/10.1016%2FS1875-9572%2808%2960030-3

7 January 2021

In Chlamydomonas, the loss of ND5 subunit prevents the assembly of whole mitochondrial complex I and leads to the formation of a low abundant 700 kDa subcomplex.

1 reference

https://api.crossref.org/works/10.1016%2FS1875-9572%2808%2960030-3

7 January 2021

Understanding the impact of mitochondrial defects in cardiovascular disease: a review

1 reference

https://api.crossref.org/works/10.1016%2FS1875-9572%2808%2960030-3

7 January 2021

High incidence of pre-excitation syndrome in Japanese families with Leber's hereditary optic neuropathy

1 reference

https://api.crossref.org/works/10.1016%2FS1875-9572%2808%2960030-3

7 January 2021

Pre-excitation syndrome in Leber's hereditary optic neuropathy

1 reference

https://api.crossref.org/works/10.1016%2FS1875-9572%2808%2960030-3

7 January 2021

Wolff-Parkinson-White syndrome in Patients With MELAS.

1 reference

https://api.crossref.org/works/10.1016%2FS1875-9572%2808%2960030-3

7 January 2021

The Wolff-Parkinson-White syndrome: the cellular substrate for conduction in the accessory atrioventricular pathway

1 reference

https://api.crossref.org/works/10.1016%2FS1875-9572%2808%2960030-3

7 January 2021

Identification of a gene responsible for familial Wolff-Parkinson-White syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1875-9572%2808%2960030-3

7 January 2021

The AMP-activated protein kinase--fuel gauge of the mammalian cell?

1 reference

https://api.crossref.org/works/10.1016%2FS1875-9572%2808%2960030-3

7 January 2021

Cardiac manifestations in oxidative phosphorylation disorders of childhood

1 reference

https://api.crossref.org/works/10.1016%2FS1875-9572%2808%2960030-3

7 January 2021

A new mtDNA mutation in the tRNA(Leu(UUR)) gene associated with maternally inherited cardiomyopathy.

1 reference

https://api.crossref.org/works/10.1016%2FS1875-9572%2808%2960030-3

7 January 2021

Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease.

1 reference

https://api.crossref.org/works/10.1016%2FS1875-9572%2808%2960030-3

7 January 2021

Ocular histopathologic study of a patient with the T 8993-G point mutation in Leigh's syndrome.

1 reference

https://api.crossref.org/works/10.1016%2FS1875-9572%2808%2960030-3

7 January 2021

Mitochondrial optic neuropathies: how two genomes may kill the same cell type?

1 reference

https://api.crossref.org/works/10.1016%2FS1875-9572%2808%2960030-3

7 January 2021

10.1016/S1875-9572(08)60030-3

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19054921%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

1 reference