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DARS2 gene

Known as: aspartate tRNA ligase 2, mitochondrial, FLJ10514, DARS2 
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2018
2018
Correction to Helman et al (2016) MRI spectrum of SDH deficiency-related infantile leukoencephalopathy.
In our article published in March 2016, we described a series of 19 individuals with succinate dehydrogenase (SDH) deficiency… 
2017
2017
Phenotypic spectrum of DARS2 mutations
2016
2016
Use of focused exome sequencing in adult-onset leukodystrophy to identify new genes and mutations
2015
2015
Table 2. [Selected DARS2 Pathogenic Variants].
Review
2014
Review
2014
Reply: DARS2 gene clinical spectrum: new ideas regarding an underdiagnosed leukoencephalopathy.
Sir, We thank Drs Bocca Vieira de Rezende Pinto and Sgobbi de Souza for their interest in our recent overview paper on a cohort… 
2013
2013
Pathogenic mutations causing LBSL affect mitochondrial aspartyl-tRNA synthetase in diverse ways.
The autosomal recessive white matter disorder LBSL (leukoencephalopathy with brain stem and spinal cord involvement and lactate… 
2013
2013
Teaching NeuroImages: MRI guides genetics
A 12-year-old German girl presented with progressive spastic-ataxic gait and impaired fine motor skills starting from early… 
2013
2013
Mitochondrial Aspartyl-tRNA Synthetase (DARS2) Deficiency and Tissue-Specific Consequences of Defective Mitochondrial Translation
Cells try to counteract mitochondrial respiratory chain deficiencies via various kinds of largely unknown compensatory mechanisms… 
2011
2011
Expression difference of DARS2 in two murine hepatocarcinoma strains with high and low metastatic potential
[Objective] To research the expression difference of DARS2 in two murine hepatocarcinoma strains(Hca-F and Hca-P)with high and… 
Review
2009
Review
2009
[Clinical and molecular genetic diagnosis of leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation in children].
Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) is a recently described disorder with… 
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