(Q55530831)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23918765%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

title

A distinct mitochondrial myopathy, lactic acidosis and sideroblastic anemia (MLASA) phenotype associates with YARS2 mutations (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23918765%20AND%20SRC:MED&resulttype=core&format=json

myopathy, lactic acidosis, and sideroblastic anemia

6 March 2020

main subject

0 references

1 reference

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23918765%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

author name string

Rojeen Shahni

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23918765%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

Maureen A Cleary

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23918765%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

Keith J Lindley

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23918765%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

Keith R Sibson

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23918765%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

Shamima Rahman

6

1 reference

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6 March 2020

language of work or name

English

0 references

publication date

5 August 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23918765%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics

6 March 2020

published in

1 reference

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6 March 2020

volume

161A

1 reference

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6 March 2020

issue

9

1 reference

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6 March 2020

page(s)

2334-2338

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23918765%20AND%20SRC:MED&resulttype=core&format=json

Mitochondrial aminoacyl-tRNA synthetases in human disease

6 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=3884767

Single deletions in mitochondrial DNA--molecular mechanisms and disease phenotypes in clinical practice

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3884767

Congenital sideroblastic anemias: iron and heme lost in mitochondrial translation.

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3884767

Human mitochondrial tRNAs: biogenesis, function, structural aspects, and diseases

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3884767

Human diseases with impaired mitochondrial protein synthesis

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3884767

Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3884767

Systematic molecular genetic analysis of congenital sideroblastic anemia: evidence for genetic heterogeneity and identification of novel mutations

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3884767

Mitochondrial myopathy and sideroblastic anemia (MLASA): missense mutation in the pseudouridine synthase 1 (PUS1) gene is associated with the loss of tRNA pseudouridylation

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3884767

Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA).

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3884767

Pearson syndrome and mitochondrial encephalomyopathy in a patient with a deletion of mtDNA.

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3884767

189th ENMC international workshop complex I deficiency: diagnosis and treatment 20-22 April 2012, Naarden, The Netherlands.

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3884767

Nuclear genetic control of mitochondrial translation in skeletal muscle revealed in patients with mitochondrial myopathy

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3884767

A novel mutation in YARS2 causes myopathy with lactic acidosis and sideroblastic anemia

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3884767

A novel mutation in the mitochondrial tRNA(TYr) gene associated with exercise intolerance

2 November 2018

1 reference

12 December 2020

Novel homoplasmic mutation in the mitochondrial tRNATyr gene associated with atypical mitochondrial cytopathy presenting with focal segmental glomerulosclerosis

1 reference

12 December 2020

Spectrum of mitochondrial DNA rearrangements in the Pearson marrow-pancreas syndrome

1 reference

12 December 2020

Early onset of complete heart block in Pearson syndrome

1 reference

12 December 2020

Identifiers

DOI

10.1002/AJMG.A.36065

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23918765%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23918765%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

PubMed publication ID

23918765

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23918765%20AND%20SRC:MED&resulttype=core&format=json