(Q57251796)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21458341%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

title

Cellular rescue-assay aids verification of causative DNA-variants in mitochondrial complex I deficiency (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21458341%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

1 reference

mitochondrial complex I deficiency

1 reference

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21458341%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

Thomas Meitinger

series ordinal

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21458341%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

Holger Prokisch

series ordinal

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21458341%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

3

Tobias B Haack

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21458341%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

1

Katharina Danhauser

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21458341%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

2

Arcangela Iuso

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21458341%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

4

Peter Freisinger

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21458341%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

author name string

Knut Brockmann

series ordinal

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21458341%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

publication date

11 March 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21458341%20AND%20SRC:MED&resulttype=core&format=json

Molecular Genetics and Metabolism

27 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21458341%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

volume

103

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21458341%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21458341%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

page(s)

161-166

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21458341%20AND%20SRC:MED&resulttype=core&format=json

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

27 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.03.004

Exome sequencing identifies the cause of a mendelian disorder

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.03.004

Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.03.004

Mitochondrial complex I: structure, function and pathology

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.03.004

Cell biological consequences of mitochondrial NADH: ubiquinone oxidoreductase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.03.004

Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.03.004

Pathogenetic mechanisms in hereditary dysfunctions of complex I of the respiratory chain in neurological diseases

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.03.004

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.2011.03.004

Clinical and molecular findings in children with complex I deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.03.004

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.2011.03.004

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.03.004

Novel mutations in the NDUFS1 gene cause low residual activities in human complex I deficiencies.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.03.004

The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.03.004

Progressive cavitating leukoencephalopathy associated with respiratory chain complex I deficiency and a novel mutation in NDUFS1

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.03.004

A genome-wide association study identifies three loci associated with mean platelet volume

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.03.004

Carvedilol inhibits mitochondrial complex I and induces resistance to H2O2-mediated oxidative insult in H9C2 myocardial cells

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.03.004

MutationTaster evaluates disease-causing potential of sequence alterations

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.03.004

Nonviability of cells with oxidative defects in galactose medium: a screening test for affected patient fibroblasts

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.03.004

High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.03.004

Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.03.004

Baculovirus complementation restores a novel NDUFAF2 mutation causing complex I deficiency.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.03.004

10.1016/J.YMGME.2011.03.004

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21458341%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

1 reference