(Q46149031)

19 December 2017

title

Rapid screening for nuclear genes mutations in isolated respiratory chain complex I defects (English)

1 reference

19 December 2017

author name string

Hélène Pagniez-Mammeri

1

1 reference

19 December 2017

Anne Lombes

2

1 reference

19 December 2017

Michèle Brivet

3

1 reference

19 December 2017

Hélène Ogier-de Baulny

4

1 reference

19 December 2017

Pierre Landrieu

5

1 reference

19 December 2017

Alain Legrand

6

1 reference

19 December 2017

Abdelhamid Slama

7

1 reference

19 December 2017

publication date

22 January 2009

1 reference

19 December 2017

Molecular Genetics and Metabolism

published in

1 reference

19 December 2017

volume

96

1 reference

19 December 2017

issue

4

1 reference

19 December 2017

page(s)

196-200

1 reference

19 December 2017

Clinical and molecular findings in children with complex I deficiency

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.12.003

Clinical spectrum and diagnosis of mitochondrial disorders

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.12.003

Bovine complex I is a complex of 45 different subunits.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.12.003

Mitochondrial complex I: structure, function and pathology

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.12.003

Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.12.003

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%2FJ.YMGME.2008.12.003

Leigh syndrome associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFS1 gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.12.003

Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.12.003

Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.12.003

Demonstration of a new pathogenic mutation in human complex I deficiency: a 5-bp duplication in the nuclear gene encoding the 18-kD (AQDQ) subunit

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.12.003

A nonsense mutation in the NDUFS4 gene encoding the 18 kDa (AQDQ) subunit of complex I abolishes assembly and activity of the complex in a patient with Leigh-like syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.12.003

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%2FJ.YMGME.2008.12.003

Pathological mutations of the human NDUFS4 gene of the 18-kDa (AQDQ) subunit of complex I affect the expression of the protein and the assembly and function of the complex

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.12.003

NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.12.003

Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.12.003

A novel mutation in the human complex I NDUFS7 subunit associated with Leigh syndrome.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.12.003

The first nuclear-encoded complex I mutation in a patient with Leigh syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.12.003

Late-onset Leigh syndrome in a patient with mitochondrial complex I NDUFS8 mutations

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.12.003

Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.12.003

Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.12.003

X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.12.003

Mitochondrial complex I deficiency caused by a deleterious NDUFA11 mutation.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.12.003

Mutation detection using Surveyor nuclease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.12.003

Biochemical and molecular investigations in respiratory chain deficiencies

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.12.003

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.12.003

Surveyor Nuclease: a new strategy for a rapid identification of heteroplasmic mitochondrial DNA mutations in patients with respiratory chain defects.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.12.003

Development of a rapid, reliable genetic test for pseudoxanthoma elasticum

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.12.003

Surveyor nuclease-based detection of p53 gene mutations in haematological malignancy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.12.003

A rapid and sensitive enzymatic method for epidermal growth factor receptor mutation screening

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.12.003

Temperature-mediated heteroduplex analysis for the detection of drug-resistant gene mutations in clinical isolates of Mycobacterium tuberculosis by denaturing HPLC, SURVEYOR nuclease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.12.003

Isolated complex I deficiency in children: clinical, biochemical and genetic aspects

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.12.003

mRNA quality control: an ancient machinery recognizes and degrades mRNAs with nonsense codons.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.12.003

A strategy for disease gene identification through nonsense-mediated mRNA decay inhibition

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.12.003

10.1016/J.YMGME.2008.12.003

7 January 2021

Identifiers

DOI

1 reference

19 December 2017

1 reference

19 December 2017