(Q31154625)

21 August 2017

0 references

Compound heterozygous mutations in glycyl-tRNA synthetase are a proposed cause of systemic mitochondrial disease (English)

1 reference

21 August 2017

mitochondrial disease

1 reference

1 reference

Jeremy Schwartzentruber

2

object named as

Jeremy Schwartzentruber

0 references

Hugh J. McMillan

object named as

Hugh J McMillan

1

0 references

Kym M Boycott

9

object named as

Kym M Boycott

1 reference

21 August 2017

8

Jacek Majewski

1 reference

21 August 2017

7

Chandree L Beaulieu

1 reference

21 August 2017

6

Dennis E Bulman

1 reference

21 August 2017

Amanda Smith

3

1 reference

21 August 2017

Suzie Lee

4

1 reference

21 August 2017

Pranesh Chakraborty

5

1 reference

21 August 2017

Michael T Geraghty

10

1 reference

21 August 2017

26 March 2014

1 reference

21 August 2017

1 reference

21 August 2017

15

1 reference

21 August 2017

36

1 reference

https://scigraph.springernature.com/pub.10.1186/1471-2350-15-36

21 August 2017

0 references

cites work

Alanyl-tRNA synthetase mutation in a family with dominant distal hereditary motor neuropathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973608

Charcot-Marie-Tooth-linked mutant GARS is toxic to peripheral neurons independent of wild-type GARS levels

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973608

Charcot-Marie-Tooth disease CMT4A: GDAP1 increases cellular glutathione and the mitochondrial membrane potential.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973608

Acetazolamide-responsive exercise-induced episodic ataxia associated with a novel homozygous DARS2 mutation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973608

Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973608

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973608

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973608

A method and server for predicting damaging missense mutations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973608

GARS axonopathy: not every neuron's cup of tRNA

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973608

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973608

The Sequence Alignment/Map format and SAMtools

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973608

Fast and accurate short read alignment with Burrows-Wheeler transform

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973608

The role of aminoacyl-tRNA synthetases in genetic diseases

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973608

Severe childhood SMA and axonal CMT due to anticodon binding domain mutations in the GARS gene

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973608

Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973608

Functional expansion of aminoacyl-tRNA synthetases and their interacting factors: new perspectives on housekeepers

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973608

Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973608

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973608

Leukoencephalopathy with brainstem and spinal cord involvement caused by a novel mutation in the DARS2 gene.

21 June 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1471-2350-15-36

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

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1471-2350-15-36

21 January 2018

Identifiers

DOI

10.1186/1471-2350-15-36

1 reference

Dimensions Publication ID

21 August 2017

0 references

1 reference

21 August 2017

PubMed publication ID

24669931

1 reference