1. Leukoencephalopathy with thalamus and brainstem involvement and high lactate “LTBL” caused by EARS2 mutations;Steenweg;Brain,2012
2. Mitochondrial disorders: nuclear gene mutations;Ghezzi,2011
3. Multisystem fatal infantile disease caused by a novel homozygous EARS2 mutation;Talim;Brain,2013
4. EARS2 Mutations Cause Fatal Neonatal Lactic Acidosis, Recurrent Hypoglycemia and Agenesis of Corpus Callosum;Danhauser,2016
5. Absent thalami caused by a homozygous EARS2 mutation: expanding disease spectrum of LTBL;Kevelam;Neuropediatrics,2016