Early-Onset Mild Type Leukoencephalopathy Caused by a Homozygous EARS2 Mutation

Mutations in GTPBP3 Cause a Mitochondrial Translation Defect Associated with Hypertrophic Cardiomyopathy, Lactic Acidosis, and Encephalopathy

(2014) Robert Kopajtich et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Strategies for treating mitochondrial disorders: An update

(2014) Mauro Scarpelli et al.   MOLECULAR GENETICS AND METABOLISM

DARS-associated leukoencephalopathy can mimic a steroid-responsive neuroinflammatory disorder

(2014) N. I. Wolf et al.   NEUROLOGY

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

Leukoencephalopathy with thalamus and brainstem involvement and high lactate ‘LTBL’ caused by EARS2 mutations

(2012) Marjan E. Steenweg et al.   BRAIN

Multisystem fatal infantile disease caused by a novel homozygous EARS2 mutation

(2012) Beril Talim et al.   BRAIN

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