- Report of a new family and a novel DARS2 mutation🔍
- Leukoencephalopathy with Brain stem and Spinal cord involvement ...🔍
- Leukoencephalopathy with brainstem and spinal cord involvement ...🔍
- Leukoencephalopathy with Brainstem and Spinal Cord Involvement ...🔍
- A novel DARS2 mutation in a Japanese patient with ...🔍
- Molecular Genetics and Metabolism Reports🔍
- Genetic study of the LBSL patient. A DARS2 mutation c.228|16 C>A ...🔍
- [PDF] Mutations in DARS2 result in global dysregulation of mRNA ...🔍
Report of a new family and a novel DARS2 mutation
Report of a new family and a novel DARS2 mutation - PubMed
We present a new family with two children affected with LBSL and describe a novel mutation in the DARS2 intron 2 hotspot.
Report of a new family and a novel DARS2 mutation - ScienceDirect
We present a new family with two children affected with LBSL and describe a novel mutation in the DARS2 intron 2 hotspot.
Report of a new family and a novel DARS2 mutation - PMC - NCBI
1. Introduction. Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL; MIM 611105) is a rare autosomal ...
Leukoencephalopathy with Brain stem and Spinal cord involvement ...
This study presents a family with two affected siblings that had a novel intron 2 mutation as well as a previously identified intron 5 mutation in the DARS2 ...
Report of a new family and a novel DARS2 mutation - ResearchGate
492 + 2 T > C mutation in the DARS2 gene. Sanger sequencing uncovered a novel variant c.228-17C > G in the intron 2 hotspot. Family studies found the same ...
Leukoencephalopathy with Brain stem and Spinal cord involvement ...
To present a new family with two affected members with LBSL and report a novel DARS2 mutation. An 8-year-old boy (Patient 1) was referred due to headaches ...
Leukoencephalopathy with brainstem and spinal cord involvement ...
Leukoencephalopathy with Brain stem and Spinal cord involvement and Lactate elevation (LBSL): Report of a new family and a novel DARS2 mutation.
Leukoencephalopathy with Brainstem and Spinal Cord Involvement ...
Most DARS2 mutations of LBSL are compound heterozygous, within which a splice mutation in intron 2 is almost invariably found. In this report we ...
A novel DARS2 mutation in a Japanese patient with ... - Nature
The mitochondrial aspartyl-tRNA synthetase 2 gene (DARS2) is responsible for leukoencephalopathy with brainstem and spinal cord involvement ...
Molecular Genetics and Metabolism Reports | Vol 38, March 2024
... Report of a new family and a novel DARS2 mutation. Wei-Lin Huang, Maija R. Steenari, Rebekah Barrick, Mariella T. Simon, ... Jose E. Abdenur. Article 101025 ...
Genetic study of the LBSL patient. A DARS2 mutation c.228-16 C>A ...
492 + 2 T > C mutation in the DARS2 gene. Sanger sequencing uncovered a novel variant c.228-17C > G in the intron 2 hotspot. Family studies found the same ...
Leukoencephalopathy with Brainstem and Spinal Cord Involvement ...
... Report of a new family and a novel DARS2 mutation. 62, Huang WL...Abdenur JE, 38125072, 2024. 4, Mutations in DARS2 result in global dysregulation of mRNA ...
[PDF] Mutations in DARS2 result in global dysregulation of mRNA ...
... mutations in the DARS2 gene. Leukoencephalopathy with brainstem and spinal ... Report of a new family and a novel DARS2 mutation · Wei-Lin HuangMaija R ...
A novel homozygous mutation of DARS2 may cause a severe LBSL variant. ... New heterologous modules for classical or PCR-based gene ...
Leukoencephalopathy with Brain stem and Spinal cord involvement ...
Leukoencephalopathy with Brain stem and Spinal cord involvement and Lactate elevation (LBSL): Report of a new family and a novel DARS2 mutation · Wei-Lin Huang ...
The Leukodystrophies HBSL and LBSL—Correlates and Distinctions
This review focuses on two such genes—DARS1 and DARS2—which encode cytosolic and mitochondrial aspartyl-tRNA synthetases, and the clinical ...
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1. Leukoencephalopathy with Brain stem and Spinal cord involvement and Lactate elevation (LBSL): Report of a new family and a novel DARS2 mutation. Huang, Wei- ...
Identification of a Novel Indel Variant in the DARS2 Gene in Russian ...
Case Presentation: Peripheral blood samples were collected from four patients from four unrelated families to extract genomic DNA. All patients underwent ...
Perinatal Manifestations of DARS2-Associated ...
We report a child at age 10 years with perinatal onset of symptoms evidenced by congenital microcephaly with progression to severe but non-lethal epileptic ...
Leukoencephalopathy With Brainstem and Spinal Cord Involvement ...
... genetic analysis revealed a new mutation in the DARS2 gene not previously described ... Novel Mutation of DARS2 Gene Leading to a Rapidly Progressive ...