(Q39296742)

10 September 2017

title

Novel AARS2 gene mutation producing leukodystrophy: a case report (English)

1 reference

10 September 2017

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27734837%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Peter Klivenyi

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27734837%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

4

Laszlo Vecsei

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27734837%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

author name string

Laszlo Szpisjak

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27734837%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Nora Zsindely

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27734837%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Jozsef I Engelhardt

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27734837%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

publication date

13 October 2016

1 reference

Journal of Human Genetics

10 September 2017

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27734837%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

volume

62

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27734837%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27734837%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

page(s)

329-333

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27734837%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1038/jhg.2016.126

2 June 2020

exact match

0 references

cites work

Unique features of animal mitochondrial translation systems. The non-universal genetic code, unusual features of the translational apparatus and their relevance to human mitochondrial diseases

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2016.126

Mitochondrial aminoacyl-tRNA synthetases in human disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2016.126

The Mitochondrial Aminoacyl tRNA Synthetases: Genes and Syndromes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2016.126

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2016.126

Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2016.126

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2016.126

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2016.126

Novel (ovario) leukodystrophy related to AARS2 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2016.126

The first Japanese case of leukodystrophy with ovarian failure arising from novel compound heterozygous AARS2 mutations.

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27734837

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/JHG.2016.126

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27734837%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

1 reference