Associated Papers
Amino acid supplementation in patients affected by leukoencephalopathies associated with mitochondrial aminoacyl tRNA synthetase pathogenic variants: Pilot clinical trial in adults and review of literature.
Catania A et al.
Molecular Genetics and Metabolism, 2025
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation Presenting Primarily with Exercise Intolerance: A Case Report.
Li C et al.
Annals of Clinical and Laboratory Science, 2025
The genetic spectrum features of 2261 Chinese children with epilepsy and intellectual disability.
Pang N et al.
Bmc Medicine, 2025
40598568 (PubMed )
Supplement: 12916_2025_4220_MOESM1_ESM.xlsx › Table_S3
Genome sequencing of 320 Chinese children with epilepsy: a clinical and molecular study.
Zou D et al.
Brain : a Journal of Neurology, 2021
34145886 (PubMed )
Supplement: awab233_supplementary_data.pdf
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation: A Novel DARS2 Mutation and Intra-Familial Heterogeneity.
Li JL et al.
Movement Disorders Clinical Practice, 2021
[Mutations in aminoacyl-tRNA synthetase genes: an analysis of 10 cases].
Wu TH et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2020
The Leukodystrophies HBSL and LBSL-Correlates and Distinctions.
Muthiah A et al.
Frontiers in Cellular Neuroscience, 2020
Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) with a novel DARS2 mutation and isolated progressive spastic paraparesis.
Lan MY et al.
Journal of the Neurological Sciences, 2017
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 normal lactate: a new mutation in the DARS2 gene.
Lin J et al.
Journal of Child Neurology, 2010
Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation.
Scheper GC et al.
Nature Genetics, 2007
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