Alanyl-tRNA Synthetase 2 (AARS2)-Related Ataxia Without Leukoencephalopathy

Expansion of the clinical spectrum associated with AARS2 ‐related disorders

(2019) Siddharth Srivastava et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A homozygous mutation of alanyl‐transfer RNA synthetase 2 in a patient of adult‐onset leukodystrophy: A case report and literature review

(2019) Jian‐Yong Wang et al.   Brain and Behavior

Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes

(2018) Miao Sun et al.   GENETICS IN MEDICINE

Hypermorphic and hypomorphic AARS alleles in patients with CMT2N expand clinical and molecular heterogeneities

(2018) Marian A J Weterman et al.   HUMAN MOLECULAR GENETICS

Emerging mechanisms of aminoacyl-tRNA synthetase mutations in recessive and dominant human disease

(2017) Rebecca Meyer-Schuman et al.   HUMAN MOLECULAR GENETICS

Retinopathy and optic atrophy: Expanding the phenotypic spectrum of pathogenic variants in the AARS2 gene

(2017) Jason H. Peragallo et al.   OPHTHALMIC GENETICS

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

A novel AARS mutation in a family with dominant myeloneuropathy

(2015) W. W. Motley et al.   NEUROLOGY

Novel (ovario) leukodystrophy related to AARS2 mutations

(2014) C. Dallabona et al.   NEUROLOGY

Functional Substitution of a Eukaryotic Glycyl-tRNA Synthetase with an Evolutionarily Unrelated Bacterial Cognate Enzyme

(2014) Chin-I Chien et al.   PLoS One

Exome Sequencing Identifies Mitochondrial Alanyl-tRNA Synthetase Mutations in Infantile Mitochondrial Cardiomyopathy

(2011) Alexandra Götz et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Recurrent loss-of-function alanyl-tRNA synthetase (AARS ) mutation in patients with charcot-marie-tooth disease type 2N (CMT2N)

(2011) Heather M. McLaughlin et al.   HUMAN MUTATION

The C-Ala Domain Brings Together Editing and Aminoacylation Functions on One tRNA

(2009) M. Guo et al.   SCIENCE

The Role of Aminoacyl-tRNA Synthetases in Genetic Diseases

(2008) Anthony Antonellis et al.   Annual Review of Genomics and Human Genetics