Broad spectrum of clinical presentation in EARS2 beyond typical “leukoencephalopathy with thalamus and brain stem involvement”

2019/09/03 by Pankaj Prasun, Cassie Mintz, Emalyn Cork +2 · 3 citations
Biochemistry, Genetics and Molecular Biology · Materials Science · #RNA regulation and disease #Polyoxometalates: Synthesis and Applications #Advanced Nanomaterials in Catalysis

paper · doi:10.1016/j.jns.2019.116448

Citations

• Leukoencephalopathy with thalamus and brainstem involvement and high lactate caused by novel mutations in the EARS2 gene in two siblings

Cited by

• Identification of a Novel Variant in EARS2 Associated with a Severe Clinical Phenotype Expands the Clinical Spectrum of LTBL. [europepmc]
• The pathophyiological role of aminoacyl-tRNA synthetases in digestive system diseases. [europepmc]
• Identification of EARS2 as a Potential Biomarker with Diagnostic, Prognostic, and Therapeutic Implications in Colorectal Cancer. [europepmc]