(Q43848169)

27 November 2017

An mtDNA mutation, 14453G-->A, in the NADH dehydrogenase subunit 6 associated with severe MELAS syndrome (English)

1 reference

27 November 2017

Ravn K

1

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27 November 2017

Wibrand F

2

1 reference

27 November 2017

Hansen FJ

3

1 reference

27 November 2017

Horn N

4

1 reference

27 November 2017

Rosenberg T

5

1 reference

27 November 2017

Schwartz M

6

1 reference

27 November 2017

1 October 2001

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European Journal of Human Genetics

27 November 2017

1 reference

27 November 2017

9

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27 November 2017

805-809

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27 November 2017

10

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https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5200712

27 November 2017

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cites work

A novel mtDNA mutation in the ND5 subunit of complex I in two MELAS patients

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200712

7 January 2021

Mitochondrial DNA and disease

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200712

7 January 2021

Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200712

7 January 2021

An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200712

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200712

7 January 2021

Leber's hereditary optic neuropathy plus dystonia is caused by a mitochondrial DNA point mutation

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200712

7 January 2021

Detection and characterization of mitochondrial DNA rearrangements in Pearson and Kearns-Sayre syndromes by long PCR

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200712

7 January 2021

Sequence and organization of the human mitochondrial genome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200712

7 January 2021

Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200712

7 January 2021

Mutations in the gene encoding 21-hydroxylase detected by solid-phase minisequencing.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200712

7 January 2021

An evaluation of the measurement of the activities of complexes I-IV in the respiratory chain of human skeletal muscle mitochondria.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200712

7 January 2021

Development and evaluation of a spectrophotometric assay for complex III in isolated mitochondria, tissues and fibroblasts from rats and humans

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200712

7 January 2021

mtDNA mutations that cause optic neuropathy: how do we know?

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200712

7 January 2021

The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200712

7 January 2021

The mtDNA-encoded ND6 subunit of mitochondrial NADH dehydrogenase is essential for the assembly of the membrane arm and the respiratory function of the enzyme

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200712

7 January 2021

Biochemical features of mtDNA 14484 (ND6/M64V) point mutation associated with Leber's hereditary optic neuropathy

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200712

7 January 2021

Use of transmitochondrial cybrids to assign a complex I defect to the mitochondrial DNA-encoded NADH dehydrogenase subunit 6 gene mutation at nucleotide pair 14459 that causes Leber hereditary optic neuropathy and dystonia

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200712

7 January 2021

The enigmatic relationship between mitochondrial dysfunction and Leber's hereditary optic neuropathy

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200712

7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5200712

1 reference

Dimensions Publication ID

27 November 2017

1035400730

0 references

Fatcat ID

release_2ufvo4zyjbambowvwfcbkx6jfa

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/2ufvo4zyjbambowvwfcbkx6jfa

24 November 2022

mapped directly with Wikidata item

1 reference