(Q48214396)

9 February 2018

title

A novel ND3 mitochondrial DNA mutation in three Korean children with basal ganglia lesions and complex I deficiency. (English)

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9 February 2018

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Jong Hee Chae

1

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9 February 2018

Jin Sook Lee

2

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9 February 2018

Ki Joong Kim

3

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9 February 2018

Yong Seung Hwang

4

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9 February 2018

Eduardo Bonilla

5

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9 February 2018

Kurenai Tanji

6

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9 February 2018

Michio Hirano

7

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9 February 2018

language of work or name

English

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publication date

1 May 2007

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9 February 2018

published in

Pediatric Research

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9 February 2018

volume

61

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9 February 2018

issue

5 Pt 1

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9 February 2018

page(s)

622-624

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9 February 2018

https://scigraph.springernature.com/pub.10.1203/pdr.0b013e3180459f2d

exact match

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cites work

Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E3180459F2D

A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E3180459F2D

Bilateral striatal necrosis and MELAS associated with a new T3308C mutation in the mitochondrial ND1 gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E3180459F2D

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E3180459F2D

Progressive mitochondrial disease resulting from a novel missense mutation in the mitochondrial DNA ND3 gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E3180459F2D

Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E3180459F2D

A new mitochondrial DNA mutation in ND3 gene causing severe Leigh syndrome with early lethality.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E3180459F2D

Cytochrome c oxidase deficiency in Leigh syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E3180459F2D

Biochemical and molecular diagnosis of mitochondrial respiratory chain disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E3180459F2D

Dystonia as the major manifestation of Leigh's syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E3180459F2D

De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E3180459F2D

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E3180459F2D

Mitochondrial encephalomyopathies

21 January 2018

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https://api.crossref.org/works/10.1203%2FPDR.0B013E3180459F2D

Deficiency of respiratory chain complex I is a common cause of Leigh disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E3180459F2D

Novel mitochondrial DNA ND5 mutation in a patient with clinical features of MELAS and MERRF.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E3180459F2D

A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E3180459F2D

Mitochondrial encephalomyopathies: an update

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E3180459F2D

Clinical and molecular findings in children with complex I deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E3180459F2D

10.1203/PDR.0B013E3180459F2D

21 January 2018

Identifiers

DOI

1 reference

9 February 2018

Dimensions Publication ID

1037013192

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1 reference

9 February 2018