(Q46218902)

20 December 2017

title

Leigh Syndrome and the Mitochondrial m.13513G>A Mutation: Expanding the Clinical Spectrum (English)

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20 December 2017

author name string

Laura Monlleo-Neila

1

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20 December 2017

Mireia Del Toro

2

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20 December 2017

Belen Bornstein

3

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20 December 2017

Elena Garcia-Arumi

4

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20 December 2017

Axel Sarrias

5

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20 December 2017

Manuel Roig-Quilis

6

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Francina Munell

7

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20 December 2017

publication date

3 October 2012

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20 December 2017

Journal of Child Neurology

published in

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20 December 2017

volume

28

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20 December 2017

issue

11

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20 December 2017

page(s)

1531-1534

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20 December 2017

Leigh and Leigh-like syndrome in children and adults

cites work

1 reference

https://api.crossref.org/works/10.1177%2F0883073812460580

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073812460580

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073812460580

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073812460580

Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073812460580

Expanding the clinical phenotype of the mitochondrial m.13513G>A mutation with the first report of a fatal neonatal presentation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073812460580

The G13513A mutation in the ND5 gene of mitochondrial DNA as a common cause of MELAS or Leigh syndrome: evidence from 12 cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073812460580

Is Wolff-Parkinson-White syndrome a genetic disease?

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073812460580

Wolff-Parkinson-White syndrome in Patients With MELAS.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073812460580

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073812460580

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073812460580

Epileptic seizures in infants and children with mitochondrial diseases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073812460580

Epileptic phenotypes in children with respiratory chain disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073812460580

Vigabatrin-associated reversible MRI signal changes in patients with infantile spasms

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073812460580

ND5 is a hot-spot for multiple atypical mitochondrial DNA deletions in mitochondrial neurogastrointestinal encephalomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073812460580

21 January 2018

Identifiers

DOI

10.1177/0883073812460580

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20 December 2017

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20 December 2017