(Q48704613)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24952175%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

title

A homozygous mutation in the NDUFS1 gene presents with a mild cavitating leukoencephalopathy (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24952175%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

1 reference

Alireza Kashani

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24952175%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Isabelle Thiffault

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24952175%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Marie-Emmanuelle Dilenge

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24952175%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Christine Saint-Martin

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24952175%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Luan T Tran

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24952175%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Eric Shoubridge

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24952175%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Marjo S van der Knaap

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24952175%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Nancy Braverman

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24952175%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

publication date

21 June 2014

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24952175%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24952175%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

volume

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24952175%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24952175%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

page(s)

161-164

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24952175%20AND%20SRC:MED&resulttype=core&format=json

Complex I deficiency: clinical features, biochemistry and molecular genetics

21 March 2020

cites work

1 reference

https://api.crossref.org/works/10.1007%2FS10048-014-0412-2

Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-014-0412-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-014-0412-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-014-0412-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-014-0412-2

Invited article: an MRI-based approach to the diagnosis of white matter disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-014-0412-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-014-0412-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-014-0412-2

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

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24952175