Associated Papers
Leukoencephalopathy with Brain stem and Spinal cord involvement and Lactate elevation (LBSL): Report of a new family and a novel DARS2 mutation.
Huang WL et al.
Molecular Genetics and Metabolism Reports, 2024
Clinical implementation of RNA sequencing for Mendelian disease diagnostics.
Yépez VA et al.
Genome Medicine, 2022
A novel DARS2 mutation in a Japanese patient with leukoencephalopathy with brainstem and spinal cord involvement but no lactate elevation.
Shimojima K et al.
Human Genome Variation, 2017
Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation: clinical and genetic characterization and target for therapy.
van Berge L et al.
Brain : a Journal of Neurology, 2014
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