(Q41929201)

English

Congenital Visual Impairment and Progressive Microcephaly Due to Lysyl-Transfer Ribonucleic Acid (RNA) Synthetase (KARS) Mutations: The Expanding Phenotype of Aminoacyl-Transfer RNA Synthetase Mutations in Human Disease

scientific article published on 20 October 2014

Congenital Visual Impairment and Progressive Microcephaly Due to Lysyl–Transfer Ribonucleic Acid (RNA) Synthetase (KARS) Mutations

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scholarly article

1 reference

Europe PubMed Central

14 October 2017

Congenital Visual Impairment and Progressive Microcephaly Due to Lysyl-Transfer Ribonucleic Acid (RNA) Synthetase (KARS) Mutations: The Expanding Phenotype of Aminoacyl-Transfer RNA Synthetase Mutations in Human Disease (English)

1 reference

Europe PubMed Central

14 October 2017

congenital disorder

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visual impairment

1 reference

based on heuristic

inferred from title

Hugh J. McMillan

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Hugh J McMillan

1

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Jeremy Schwartzentruber

object named as

Jeremy Schwartzentruber

4

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10

object named as

Kym M Boycott

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Europe PubMed Central

14 October 2017

9

object named as

Jacek Majewski

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Europe PubMed Central

14 October 2017

8

object named as

FORGE Canada Consortium

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Europe PubMed Central

14 October 2017

Chandree L Beaulieu

7

object named as

Chandree L Beaulieu

1 reference

Europe PubMed Central

14 October 2017

Dennis E Bulman

6

object named as

Dennis E Bulman

1 reference

Europe PubMed Central

14 October 2017

author name string

Peter Humphreys

2

1 reference

Europe PubMed Central

14 October 2017

Amanda Smith

3

1 reference

Europe PubMed Central

14 October 2017

Pranesh Chakraborty

5

1 reference

Europe PubMed Central

14 October 2017

Michael T Geraghty

11

1 reference

Europe PubMed Central

14 October 2017

publication date

20 October 2014

1 reference

Europe PubMed Central

14 October 2017

Journal of Child Neurology

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14 October 2017

30

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14 October 2017

8

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14 October 2017

1037-1043

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14 October 2017

The role of aminoacyl-tRNA synthetases in genetic diseases

1 reference

https://api.crossref.org/works/10.1177%2F0883073814553272

21 January 2018

A major determinant for binding and aminoacylation of tRNA(Ala) in cytoplasmic Alanyl-tRNA synthetase is mutated in dominant axonal Charcot-Marie-Tooth disease

1 reference

https://api.crossref.org/works/10.1177%2F0883073814553272

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1177%2F0883073814553272

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1177%2F0883073814553272

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1177%2F0883073814553272

21 January 2018

Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures

1 reference

https://api.crossref.org/works/10.1177%2F0883073814553272

21 January 2018

What can exome sequencing do for you?

1 reference

https://api.crossref.org/works/10.1177%2F0883073814553272

21 January 2018

Rare-disease genetics in the era of next-generation sequencing: discovery to translation

1 reference

https://api.crossref.org/works/10.1177%2F0883073814553272

21 January 2018

Mutations in KARS, encoding lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic hearing impairment DFNB89

1 reference

https://api.crossref.org/works/10.1177%2F0883073814553272

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1177%2F0883073814553272

21 January 2018

A method and server for predicting damaging missense mutations

1 reference

https://api.crossref.org/works/10.1177%2F0883073814553272

21 January 2018

Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity.

1 reference

https://api.crossref.org/works/10.1177%2F0883073814553272

21 January 2018

Genetic mapping and exome sequencing identify variants associated with five novel diseases

1 reference

https://api.crossref.org/works/10.1177%2F0883073814553272

21 January 2018

Identification of a mutation in LARS as a novel cause of infantile hepatopathy

1 reference

https://api.crossref.org/works/10.1177%2F0883073814553272

21 January 2018

Rare recessive loss-of-function methionyl-tRNA synthetase mutations presenting as a multi-organ phenotype

1 reference

https://api.crossref.org/works/10.1177%2F0883073814553272

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1177%2F0883073814553272

21 January 2018

Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation

1 reference

https://api.crossref.org/works/10.1177%2F0883073814553272

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1177%2F0883073814553272

21 January 2018

Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations.

1 reference

https://api.crossref.org/works/10.1177%2F0883073814553272

21 January 2018

Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy

1 reference

https://api.crossref.org/works/10.1177%2F0883073814553272

21 January 2018

Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome

1 reference

https://api.crossref.org/works/10.1177%2F0883073814553272

21 January 2018

Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome

1 reference

https://api.crossref.org/works/10.1177%2F0883073814553272

21 January 2018

Mutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humans

1 reference

https://api.crossref.org/works/10.1177%2F0883073814553272

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1177%2F0883073814553272

21 January 2018

Mutations in the mitochondrial seryl-tRNA synthetase cause hyperuricemia, pulmonary hypertension, renal failure in infancy and alkalosis, HUPRA syndrome

1 reference

https://api.crossref.org/works/10.1177%2F0883073814553272

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1177%2F0883073814553272

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1177%2F0883073814553272

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1177%2F0883073814553272

21 January 2018

Identifiers

10.1177/0883073814553272

1 reference

Europe PubMed Central

14 October 2017

1 reference

Europe PubMed Central

14 October 2017

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