(Q50025449)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29440775%20AND%20SRC:MED&resulttype=core&format=json

17 March 2020

title

Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain disease (English)

1 reference

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17 March 2020

author

Suzanne C E H Sallevelt

5

1 reference

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17 March 2020

René de Coo

13

1 reference

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17 March 2020

Jo M. Vanoevelen

14

1 reference

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17 March 2020

2

Radek Szklarczyk

1 reference

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17 March 2020

15

Hubert J M Smeets

1 reference

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17 March 2020

author name string

Rick Kamps

1

1 reference

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17 March 2020

Tom E Theunissen

3

1 reference

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17 March 2020

Debby M E I Hellebrekers

4

1 reference

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17 March 2020

Iris B Boesten

6

1 reference

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17 March 2020

Bart de Koning

7

1 reference

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17 March 2020

Bianca J van den Bosch

8

1 reference

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17 March 2020

Gajja S Salomons

9

1 reference

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17 March 2020

Marisa Simas-Mendes

10

1 reference

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17 March 2020

Rob Verdijk

11

1 reference

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17 March 2020

Kees Schoonderwoerd

12

1 reference

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17 March 2020

publication date

13 February 2018

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29440775%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

17 March 2020

published in

1 reference

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17 March 2020

volume

26

1 reference

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17 March 2020

issue

4

1 reference

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17 March 2020

page(s)

537-551

1 reference

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https://scigraph.springernature.com/pub.10.1038/s41431-017-0058-2

17 March 2020

exact match

0 references

cites work

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Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome

26 August 2018

1 reference

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Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder.

26 August 2018

1 reference

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Structural modeling of tissue-specific mitochondrial alanyl-tRNA synthetase (AARS2) defects predicts differential effects on aminoacylation

26 August 2018

1 reference

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Whole exome sequencing reveals mutations in NARS2 and PARS2, encoding the mitochondrial asparaginyl-tRNA synthetase and prolyl-tRNA synthetase, in patients with Alpers syndrome

26 August 2018

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Deficiencies in tRNA synthetase editing activity cause cardioproteinopathy.

26 August 2018

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Two siblings with homozygous pathogenic splice-site variant in mitochondrial asparaginyl-tRNA synthetase (NARS2).

26 August 2018

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Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndrome

26 August 2018

1 reference

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Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.

26 August 2018

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VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies

26 August 2018

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26 August 2018

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Glutamyl-tRNAGln amidotransferase is essential for mammalian mitochondrial translation in vivo

26 August 2018

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26 August 2018

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MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast

26 August 2018

1 reference

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Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity.

26 August 2018

1 reference

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Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome

26 August 2018

1 reference

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26 August 2018

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Exome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal Leigh syndrome

26 August 2018

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26 August 2018

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26 August 2018

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26 August 2018

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26 August 2018

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26 August 2018

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26 August 2018

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Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy

26 August 2018

1 reference

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Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome

26 August 2018

1 reference

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Mutations in the mitochondrial seryl-tRNA synthetase cause hyperuricemia, pulmonary hypertension, renal failure in infancy and alkalosis, HUPRA syndrome

26 August 2018

1 reference

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26 August 2018

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26 August 2018

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26 August 2018

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26 August 2018

1 reference

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26 August 2018

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Biogenesis of glutaminyl-mt tRNAGln in human mitochondria

26 August 2018

1 reference

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Acute infantile liver failure due to mutations in the TRMU gene.

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5891491

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26 August 2018

1 reference

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Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5891491

Human TRMU encoding the mitochondrial 5-methylaminomethyl-2-thiouridylate-methyltransferase is a putative nuclear modifier gene for the phenotypic expression of the deafness-associated 12S rRNA mutations

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5891491

Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V.

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5891491

Prevalence of hypertrophic cardiomyopathy in a general population of young adults. Echocardiographic analysis of 4111 subjects in the CARDIA Study. Coronary Artery Risk Development in (Young) Adults

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5891491

26 August 2018

Mitochondrial diseases

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FS41431-017-0058-2

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/S41431-017-0058-2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29440775%20AND%20SRC:MED&resulttype=core&format=json

17 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29440775%20AND%20SRC:MED&resulttype=core&format=json

17 March 2020

PubMed publication ID

29440775

1 reference