(Q41931353)

English

Mitochondrial myopathy, lactic acidosis, and sideroblastic anemia (MLASA) plus associated with a novel de novo mutation (m.8969G>A) in the mitochondrial encoded ATP6 gene

scientific article published on 30 June 2014

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scholarly article

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Europe PubMed Central

PMC publication ID

14 October 2017

Mitochondrial myopathy, lactic acidosis, and sideroblastic anemia (MLASA) plus associated with a novel de novo mutation (m.8969G>A) in the mitochondrial encoded ATP6 gene (English)

1 reference

Europe PubMed Central

PMC publication ID

14 October 2017

myopathy, lactic acidosis, and sideroblastic anemia

0 references

lactic acidosis

1 reference

based on heuristic

inferred from title

4

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12 June 2020

12

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12 June 2020

author name string

Lindsay C Burrage

1

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12 June 2020

Sha Tang

2

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12 June 2020

Jing Wang

3

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12 June 2020

Magdalena Walkiewicz

5

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12 June 2020

J Michael Luchak

6

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12 June 2020

Li-Chieh Chen

7

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12 June 2020

Eric S Schmitt

8

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12 June 2020

Zhiyv Niu

9

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12 June 2020

Rodrigo Erana

10

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12 June 2020

Jill V Hunter

11

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12 June 2020

Lee-Jun Wong

13

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12 June 2020

Fernando Scaglia

14

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12 June 2020

publication date

30 June 2014

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14 October 2017

Molecular Genetics and Metabolism

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12 June 2020

113

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12 June 2020

3

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12 June 2020

207-212

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12 June 2020

Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4253070

5 June 2018

Screen for abnormal mitochondrial phenotypes in mouse embryonic stem cells identifies a model for succinyl-CoA ligase deficiency and mtDNA depletion.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4253070

5 June 2018

Clinical whole-exome sequencing for the diagnosis of mendelian disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4253070

5 June 2018

Mitochondrial ATP synthase: architecture, function and pathology.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4253070

5 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4253070

5 June 2018

A method and server for predicting damaging missense mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4253070

5 June 2018

Utility of oligonucleotide array-based comparative genomic hybridization for detection of target gene deletions.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4253070

5 June 2018

Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4253070

5 June 2018

Molecular analysis for mitochondrial DNA disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4253070

5 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4253070

5 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4253070

5 June 2018

Predicting deleterious amino acid substitutions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4253070

5 June 2018

Myopathy, lactic acidosis, and sideroblastic anemia: a new syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4253070

5 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4253070

18 August 2018

Transition to next generation analysis of the whole mitochondrial genome: a summary of molecular defects

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4253070

18 August 2018

Comprehensive next-generation sequence analyses of the entire mitochondrial genome reveal new insights into the molecular diagnosis of mitochondrial DNA disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4253070

18 August 2018

Application of dual-genome oligonucleotide array-based comparative genomic hybridization to the molecular diagnosis of mitochondrial DNA deletion and depletion syndromes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4253070

18 August 2018

Mitochondrial myopathy, sideroblastic anemia, and lactic acidosis: an autosomal recessive syndrome in Persian Jews caused by a mutation in the PUS1 gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4253070

18 August 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4253070

18 August 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4253070

3 November 2018

Gene responsible for mitochondrial myopathy and sideroblastic anemia (MSA) maps to chromosome 12q24.33

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.06.004

7 January 2021

A novel homozygous YARS2 mutation causes severe myopathy, lactic acidosis and sideroblastic anemia 2

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.06.004

7 January 2021

Familial association of metabolic myopathy, lactic acidosis and sideroblastic anemia

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.06.004

7 January 2021

Coenzyme Q is effective on anemia in a patient with sideroblastic anemia and mitochondrial myopathy

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.06.004

7 January 2021

Comprehensive one-step molecular analyses of mitochondrial genome by massively parallel sequencing

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.06.004

7 January 2021

Identifiers

10.1016/J.YMGME.2014.06.004

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25037980%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25037980%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25037980%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

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