(Q44283236)

1 December 2017

Assay of mitochondrial respiratory chain complex I in human lymphocytes and cultured skin fibroblasts (English)

1 reference

1 December 2017

6

Arnold Munnich

1 reference

1 December 2017

5

Agnès Rötig

1 reference

1 December 2017

Dominique Chretien

1

1 reference

1 December 2017

Paule Bénit

2

1 reference

1 December 2017

Marie Chol

3

1 reference

1 December 2017

Sophie Lebon

4

1 reference

1 December 2017

Pierre Rustin

7

1 reference

1 December 2017

language of work or name

English

0 references

publication date

1 January 2003

1 reference

Biochemical and Biophysical Research Communications

1 December 2017

3

1 reference

based on heuristic

inferred from page(s)

published in

1 reference

1 December 2017

301

1 reference

1 December 2017

222-224

1 reference

1 December 2017

1

1 reference

Respiratory chain complex I deficiency

1 December 2017

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2802%2903016-4

A high rate (20%-30%) of parental consanguinity in cytochrome-oxidase deficiency.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2802%2903016-4

Biochemical and molecular investigations in respiratory chain deficiencies

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2802%2903016-4

Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2802%2903016-4

Genotyping microsatellite DNA markers at putative disease loci in inbred/multiplex families with respiratory chain complex I deficiency allows rapid identification of a novel nonsense mutation (IVS1nt -1) in the NDUFS4 gene in Leigh syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2802%2903016-4

The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2802%2903016-4

In vivo and in organello assessment of OXPHOS activities

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2802%2903016-4

Prenatal diagnosis of NADH:ubiquinone oxidoreductase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2802%2903016-4

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2802%2903016-4

A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2802%2903016-4

The measurement of the rotenone-sensitive NADH cytochrome c reductase activity in mitochondria isolated from minute amount of human skeletal muscle.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2802%2903016-4

Ultrastructural localization of cholesterol by enzyme histochemistry

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2802%2903016-4

Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0006-291X%2802%2903016-4

10.1016/S0006-291X(02)03016-4

7 January 2021

Identifiers

DOI

1 reference

1 December 2017

1 reference