(Q28307177)

2

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J G Nijland

3

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R J H Galjaard

4

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F J Los

5

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K Schoonderwoerd

6

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M F Niermeijer

7

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J P M Geraedts

8

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H R Scholte

9

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H J M Smeets

Molecular Human Reproduction

10

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language of work or name

English

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publication date

March 2005

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published in

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volume

11

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issue

3

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page(s)

223-8

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cites work

A point mutation of mitochondrial ATPase 6 gene in Leigh syndrome

1 reference

https://api.crossref.org/works/10.1093%2FMOLEHR%2FGAH152

Cytochrome c oxidase deficiency in subacute necrotizing encephalomyelopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FMOLEHR%2FGAH152

Skewed segregation of the mtDNA nt 8993 (T-->G) mutation in human oocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FMOLEHR%2FGAH152

The T9176G mtDNA mutation severely affects ATP production and results in Leigh syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FMOLEHR%2FGAH152

Getting to the nucleus of mitochondrial disorders: identification of respiratory chain-enzyme genes causing Leigh syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FMOLEHR%2FGAH152

Prospect of preimplantation genetic diagnosis for heritable mitochondrial DNA diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FMOLEHR%2FGAH152

Mutation analysis of the entire mitochondrial genome using denaturing high performance liquid chromatography

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FMOLEHR%2FGAH152

Mitochondrial DNA polymorphism in a maternal lineage of Holstein cows

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FMOLEHR%2FGAH152

Transmission of the human mitochondrial genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FMOLEHR%2FGAH152

Confirmation that a T-to-C mutation at 9176 in mitochondrial DNA is an additional candidate mutation for Leigh's syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FMOLEHR%2FGAH152

A simple salting out procedure for extracting DNA from human nucleated cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FMOLEHR%2FGAH152

Progress in genetic counselling and prenatal diagnosis of maternally inherited mtDNA diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FMOLEHR%2FGAH152

Segregation of mitochondrial DNA (mtDNA) in human oocytes and in animal models of mtDNA disease: clinical implications.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FMOLEHR%2FGAH152

Leigh syndrome: clinical features and biochemical and DNA abnormalities.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FMOLEHR%2FGAH152

Neuropathological features of mitochondrial disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FMOLEHR%2FGAH152

Mitochondrial disorders: prevalence, myths and advances.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FMOLEHR%2FGAH152

Mitochondrial disorders: genetics, counseling, prenatal diagnosis and reproductive options.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FMOLEHR%2FGAH152

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FMOLEHR%2FGAH152

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FMOLEHR%2FGAH152

Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FMOLEHR%2FGAH152

21 January 2018

Identifiers

DOI

10.1093/MOLEHR/GAH152

1 reference

Consolidated OpenCitations Corpus – April 2017

release_63bcviddyvgcjkxlfkntwatufi

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/63bcviddyvgcjkxlfkntwatufi

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

Consolidated OpenCitations Corpus – April 2017

PubMed publication ID

15709156

1 reference

Consolidated OpenCitations Corpus – April 2017