Associated Papers
Mitochondrial Aminoacyl-tRNA Synthetase and Disease: The Yeast Contribution for Functional Analysis of Novel Variants.
Figuccia S et al.
International Journal of Molecular Sciences, 2021
33926074 (PubMed )
Supplement: ijms-22-04524-s001.zip › Supplementary_table_1.pdf
LBSL: Case Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected Presentations.
Stellingwerff MD et al.
Neurology. Genetics, 2021
Perinatal Manifestations of DARS2-Associated Leukoencephalopathy With Brainstem and Spinal Cord Involvement and Lactate Elevation (LBSL).
Ngo J et al.
Child Neurology Open, 0
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