(Q41196885)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25787132%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

title

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

1 reference

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3 March 2020

4

1 reference

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3 March 2020

Curtis R Coughlin Ii

1

1 reference

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3 March 2020

Christopher A. Powell

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25787132%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Michał Mińczuk

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25787132%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

2

Gunter H Scharer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25787132%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

13

Johan L K Van Hove

1 reference

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3 March 2020

14

Tamim H Shaikh

1 reference

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3 March 2020

author name string

Marisa W Friederich

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25787132%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Elizabeth A Geiger

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25787132%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Geralyn Creadon-Swindell

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25787132%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Abigail E Collins

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25787132%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Arnaud V Vanlander

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25787132%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Rudy Van Coster

9

1 reference

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3 March 2020

Michael A Swanson

11

1 reference

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3 March 2020

language of work or name

English

0 references

publication date

18 March 2015

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25787132%20AND%20SRC:MED&resulttype=core&format=json

Journal of Medical Genetics

3 March 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25787132%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

volume

52

1 reference

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3 March 2020

issue

8

1 reference

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3 March 2020

page(s)

532-540

1 reference

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Minimum birth prevalence of mitochondrial respiratory chain disorders in children

3 March 2020

cites work

1 reference

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Monogenic mitochondrial disorders

21 January 2018

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A mitochondrial protein compendium elucidates complex I disease biology

21 January 2018

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Next generation sequence analysis for mitochondrial disorders

21 January 2018

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Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing

21 January 2018

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

21 January 2018

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Spasms in children with definite and probable mitochondrial disease.

21 January 2018

1 reference

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Mitochondrial respiratory chain defects: underlying etiology in various epileptic conditions.

21 January 2018

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Epilepsy and respiratory chain defects in children with mitochondrial encephalopathies

21 January 2018

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Progressive neuronal degeneration of childhood with liver disease (Alpers-Huttenlocher syndrome): a personal review

21 January 2018

1 reference

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Status epilepticus in children with Alpers' disease caused by POLG1 mutations: EEG and MRI features

21 January 2018

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Respiratory chain deficiency in Alpers syndrome.

21 January 2018

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Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene

21 January 2018

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Phenotypic and genotypic variability in Alpers syndrome

21 January 2018

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Leigh syndrome: clinical features and biochemical and DNA abnormalities.

21 January 2018

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Fatty liver is associated with reduced SIRT3 activity and mitochondrial protein hyperacetylation

21 January 2018

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Blue native polyacrylamide gel electrophoresis: a powerful tool in diagnosis of oxidative phosphorylation defects

21 January 2018

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Subcomplexes of mitochondrial complex V reveal mutations in mitochondrial DNA.

21 January 2018

1 reference

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An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103049

Shape-selective RNA recognition by cysteinyl-tRNA synthetase

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103049

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

21 January 2018

1 reference

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The post-transcriptional life of mammalian mitochondrial RNA.

21 January 2018

1 reference

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Mitochondrial ribosomal proteins: candidate genes for mitochondrial disease

21 January 2018

1 reference

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Mitochondrial translation and beyond: processes implicated in combined oxidative phosphorylation deficiencies

21 January 2018

1 reference

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The human mitochondrial ribosomal protein genes: mapping of 54 genes to the chromosomes and implications for human disorders

21 January 2018

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Mitochondrial diseases: translation matters

21 January 2018

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Mitochondria: mitochondrial RNA metabolism and human disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103049

The role of aminoacyl-tRNA synthetases in genetic diseases

21 January 2018

1 reference

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Toward the full set of human mitochondrial aminoacyl-tRNA synthetases: characterization of AspRS and TyrRS

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103049

Biogenesis of glutaminyl-mt tRNAGln in human mitochondria

21 January 2018

1 reference

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103049

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

21 January 2018

1 reference

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Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy

21 January 2018

1 reference

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Mutation of the human mitochondrial phenylalanine-tRNA synthetase causes infantile-onset epilepsy and cytochrome c oxidase deficiency

21 January 2018

1 reference

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VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies

21 January 2018

1 reference

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A homozygous splice-site mutation in CARS2 is associated with progressive myoclonic epilepsy

21 January 2018

1 reference

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Mitochondrial aminoacyl-tRNA synthetases in human disease

21 January 2018

1 reference

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The importance of liver biopsy in the investigation of possible mitochondrial respiratory chain disease.

21 January 2018

1 reference

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