Deficient activity of alanyl-tRNA synthetase underlies an autosomal recessive syndrome of progressive microcephaly, hypomyelination, and epileptic encephalopathy

Loss-of-Function Alanyl-tRNA Synthetase Mutations Cause an Autosomal-Recessive Early-Onset Epileptic Encephalopathy with Persistent Myelination Defect

(2015) Cas Simons et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genotype/phenotype correlations in AARS-related neuropathy in a cohort of patients from the United Kingdom and Ireland

(2015) Boglarka Bansagi et al.   JOURNAL OF NEUROLOGY

CMT2D neuropathy is linked to the neomorphic binding activity of glycyl-tRNA synthetase

(2015) Weiwei He et al.   NATURE

A novel AARS mutation in a family with dominant myeloneuropathy

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

Mutations in QARS, Encoding Glutaminyl-tRNA Synthetase, Cause Progressive Microcephaly, Cerebral-Cerebellar Atrophy, and Intractable Seizures

(2014) Xiaochang Zhang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations inRARScause hypomyelination

(2014) Nicole I. Wolf et al.   ANNALS OF NEUROLOGY

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

(2014) Hugh J. McMillan et al.   JOURNAL OF CHILD NEUROLOGY

Mutations in the glutaminyl-tRNA synthetase gene cause early-onset epileptic encephalopathy

(2014) Hirofumi Kodera et al.   JOURNAL OF HUMAN GENETICS

Extended phenotypic spectrum of KIF5A mutations: From spastic paraplegia to axonal neuropathy

(2014) Y.-T. Liu et al.   NEUROLOGY

Deficiencies in tRNA synthetase editing activity cause cardioproteinopathy

(2014) Ye Liu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders

(2014) G. Novarino et al.   SCIENCE

Mutations in DARS Cause Hypomyelination with Brain Stem and Spinal Cord Involvement and Leg Spasticity

(2013) Ryan J. Taft et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Aminoacyl-tRNA synthetases in medicine and disease

(2013) Peng Yao et al.   EMBO Molecular Medicine

Essential nontranslational functions of tRNA synthetases

(2013) Min Guo et al.   Nature Chemical Biology

Overlapping molecular pathological themes link Charcot–Marie–Tooth neuropathies and hereditary spastic paraplegias

(2012) Vincent Timmerman et al.   EXPERIMENTAL NEUROLOGY

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

A Major Determinant for Binding and Aminoacylation of tRNAAla in Cytoplasmic Alanyl-tRNA Synthetase Is Mutated in Dominant Axonal Charcot-Marie-Tooth Disease

(2010) Philippe Latour et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Paradox of mistranslation of serine for alanine caused by AlaRS recognition dilemma

(2009) Min Guo et al.   NATURE

The Role of Aminoacyl-tRNA Synthetases in Genetic Diseases

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

Practice Parameter: Evaluation of distal symmetric polyneuropathy: Role of laboratory and genetic testing (an evidence-based review): Report of the American Academy of Neurology, American Association of Neuromuscular and Electrodiagnostic Medicine, and American Academy of Physical Medicine and Rehabilitation

(2008) J. D. England et al.   NEUROLOGY