Associated Papers
Biallelic Variants in the DARS2 Gene as a Novel Cause of Axonal Charcot-Marie-Tooth Disease.
Estévez-Arias B et al.
Annals of Neurology, 2025
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.
Corbett RJ et al.
Nature Communications, 2025
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors.
Corbett RJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Aminolevulinate/iron exposure elicited Nrf-2-mediated cytoprotection in DARS2 deficient fibroblasts with impaired energy and antioxidant metabolisms.
Huang WL et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2025
Clinical and Genetic Spectrum of Patients with Pediatric-Onset Epilepsy: Insights from a Single-Center Study.
Tozkir H et al.
Genes, 2025
Primary mitochondrial disorders and mimics: Insights from a large French cohort.
Rouzier C et al.
Annals of Clinical and Translational Neurology, 2024
Identification of a Novel Indel Variant in the DARS2 Gene in Russian Patients with Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation.
Bostanova FM et al.
Genes, 2024
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
Mutations in DARS2 result in global dysregulation of mRNA metabolism and splicing.
Guang S et al.
Scientific Reports, 2023
Why Don't More Mitochondrial Diseases Exhibit Cardiomyopathy?
Singh N et al.
Journal of Cardiovascular Development and Disease, 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
Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry.
Dumont M et al.
Cancers, 2022
Pathogenic variant-based preconception carrier screening in the Israeli Jewish population.
Davidov B et al.
Clinical Genetics, 2022
Clinical implementation of RNA sequencing for Mendelian disease diagnostics.
Yépez VA et al.
Genome Medicine, 2022
Natural History of Leigh Syndrome: A Study of Disease Burden and Progression.
Lim AZ et al.
Annals of Neurology, 2022
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
Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.
Jia X et al.
Molecular Psychiatry, 2021
LBSL: Case Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected Presentations.
Stellingwerff MD et al.
Neurology. Genetics, 2021
Pathogenic Mutations and Putative Phenotype-Affecting Variants in Polish Myofibrillar Myopathy Patients.
Potulska-Chromik A et al.
Journal of Clinical Medicine, 2021
The Leukodystrophies HBSL and LBSL-Correlates and Distinctions.
Muthiah A et al.
Frontiers in Cellular Neuroscience, 2020
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes.
Sun M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Natural history of mitochondrial disorders: a systematic review.
Keshavan N et al.
Essays in Biochemistry, 2018
Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.
Fichna JP et al.
Human Genomics, 2018
Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.
Rivas MA et al.
Plos Genetics, 2018
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
A case with leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate (LBSL) with Its Characteristic Clinical and Neuroimaging Findings.
Alibas H et al.
Clinical Neuroradiology, 2014
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
Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation is associated with cell-type-dependent splicing of mtAspRS mRNA.
van Berge L et al.
The Biochemical Journal, 2012
A novel homozygous mutation of DARS2 may cause a severe LBSL variant.
Miyake N et al.
Clinical Genetics, 2011
DARS2 mutations in mitochondrial leucoencephalopathy and multiple sclerosis.
Isohanni P et al.
Journal of Medical Genetics, 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