(Q33765243)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24281368%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

title

Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy (English)

1 reference

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1 March 2020

2

1 reference

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1 March 2020

Simon Edvardson

6

1 reference

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1 March 2020

1

Ronen Spiegel

1 reference

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1 March 2020

author name string

Jonatan Halvardson

3

1 reference

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1 March 2020

Devorah Soiferman

4

1 reference

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1 March 2020

Avraham Shaag

5

1 reference

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1 March 2020

Yoseph Horovitz

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24281368%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Morad Khayat

8

1 reference

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1 March 2020

Stavit A Shalev

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24281368%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Lars Feuk

10

1 reference

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1 March 2020

Orly Elpeleg

11

1 reference

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1 March 2020

publication date

27 November 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24281368%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

1 March 2020

published in

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1 March 2020

volume

22

1 reference

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1 March 2020

issue

7

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1 March 2020

page(s)

902-906

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24281368%20AND%20SRC:MED&resulttype=core&format=json

Both human ferredoxins 1 and 2 and ferredoxin reductase are important for iron-sulfur cluster biogenesis

1 March 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4060119

A fatal mitochondrial disease is associated with defective NFU1 function in the maturation of a subset of mitochondrial Fe-S proteins

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4060119

Mutations in iron-sulfur cluster scaffold genes NFU1 and BOLA3 cause a fatal deficiency of multiple respiratory chain and 2-oxoacid dehydrogenase enzymes

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4060119

MutationTaster evaluates disease-causing potential of sequence alterations

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4060119

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4060119

Humans possess two mitochondrial ferredoxins, Fdx1 and Fdx2, with distinct roles in steroidogenesis, heme, and Fe/S cluster biosynthesis

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4060119

Molecular view of 43 S complex formation and start site selection in eukaryotic translation initiation

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4060119

A method and server for predicting damaging missense mutations

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4060119

The mechanism of eukaryotic translation initiation and principles of its regulation

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4060119

Splice mutation in the iron-sulfur cluster scaffold protein ISCU causes myopathy with exercise intolerance

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4060119

Formation and properties of [4Fe-4S] clusters on the IscU scaffold protein

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4060119

Biochemical assays for mitochondrial activity: assays of TCA cycle enzymes and PDHc

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4060119

Evaluation of enzymatic assays and compounds affecting ATP production in mitochondrial respiratory chain complex I deficiency

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4060119

Pushing the limits of the scanning mechanism for initiation of translation

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4060119

dbSNP: the NCBI database of genetic variation

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4060119

Deficiency of skeletal muscle succinate dehydrogenase and aconitase. Pathophysiology of exercise in a novel human muscle oxidative defect

22 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4060119

FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study.

22 June 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2013.269

Clinical manifestation and a new ISCU mutation in iron-sulphur cluster deficiency myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2013.269

Tissue-specific splicing of ISCU results in a skeletal muscle phenotype in myopathy with lactic acidosis, while complete loss of ISCU results in early embryonic death in mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2013.269

Single base-pair substitutions at the translation initiation sites of human genes as a cause of inherited disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2013.269

21 January 2018

Identifiers

DOI

10.1038/EJHG.2013.269

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24281368%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

1 reference

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1 March 2020

PubMed publication ID

24281368

1 reference