Associated Papers
AAV9-DARS2 Gene Therapy Rescues Phenotype in Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation Patient Cells and Neuronal Dars2 Deficient Mice.
Garofolo I et al.
Annals of Neurology, 2025
Mutations in DARS2 result in global dysregulation of mRNA metabolism and splicing.
Guang S et al.
Scientific Reports, 2023
Mutations in DARS2 result in global dysregulation of mRNA metabolism and splicing.
Guang S et al.
Research Square, 2023
Functional analysis of missense DARS2 variants in siblings with leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation.
Wongkittichote P et al.
Molecular Genetics and Metabolism, 2022
The Leukodystrophies HBSL and LBSL-Correlates and Distinctions.
Muthiah A et al.
Frontiers in Cellular Neuroscience, 2020
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
29138691 (PubMed )
Supplement: hgv201751-s1.pdf
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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