(Q50643591)

17 March 2018

title

Homoplasmy of a mitochondrial 3697G>A mutation causes Leigh syndrome. (English)

1 reference

17 March 2018

author

Shinji Saitoh

8

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17 March 2018

author name string

Yutaka Negishi

1

1 reference

17 March 2018

Ayako Hattori

2

1 reference

17 March 2018

Eri Takeshita

3

1 reference

17 March 2018

Chika Sakai

4

1 reference

17 March 2018

Naoki Ando

5

1 reference

17 March 2018

Tetsuya Ito

6

1 reference

17 March 2018

Yu-ichi Goto

7

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17 March 2018

publication date

15 May 2014

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17 March 2018

Journal of Human Genetics

published in

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17 March 2018

volume

59

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17 March 2018

issue

7

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17 March 2018

page(s)

405-407

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17 March 2018

https://scigraph.springernature.com/pub.10.1038/jhg.2014.41

exact match

0 references

cites work

Leigh syndrome: clinical features and biochemical and DNA abnormalities.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.41

Mutations of the mitochondrial ND1 gene as a cause of MELAS.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.41

A MELAS-Associated ND1 Mutation Causing Leber Hereditary Optic Neuropathy and Spastic Dystonia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.41

MITOMAP: a human mitochondrial genome database--2004 update

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.41

Assessment of mitochondrial oxidative phosphorylation in patient muscle biopsies, lymphoblasts, and transmitochondrial cell lines

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.41

Reversible infantile respiratory chain deficiency: a clinical and molecular study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.41

Two pathogenic point mutations exist in the authentic mitochondrial genome, not in the nuclear pseudogene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.41

Structure of the membrane domain of respiratory complex I

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.41

NDUFA4 is a subunit of complex IV of the mammalian electron transport chain

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.41

Respiratory complex I: mechanistic and structural insights provided by the crystal structure of the hydrophilic domain

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.41

Human complex I defects in neurodegenerative diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.41

Identification of novel mutations in five patients with mitochondrial encephalomyopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.41

Genetic counseling and prenatal diagnosis for the mitochondrial DNA mutations at nucleotide 8993

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.41

The implications of mitochondrial DNA copy number regulation during embryogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2014.41

Mitochondrial dysfunction in Stüve–Wiedemann syndrome in a patient carrying anND1 gene mutation

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24830958

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Proton spectroscopy in five patients with Leigh's disease and mitochondrial enzyme deficiency.

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24830958

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/JHG.2014.41

1 reference

17 March 2018

1 reference

17 March 2018