Associated Papers
Clinical phenotyping and genetic diagnosis of a large cohort of Sudanese families with hereditary spinocerebellar degenerations.
Yahia A et al.
European Journal of Human Genetics : Ejhg, 2024
Unclassified white matter disorders: A diagnostic journey requiring close collaboration between clinical and laboratory services.
Stutterd CA et al.
European Journal of Medical Genetics, 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
Mitochondrial Aminoacyl-tRNA Synthetase and Disease: The Yeast Contribution for Functional Analysis of Novel Variants.
Figuccia S et al.
International Journal of Molecular Sciences, 2021
33926074 (PubMed )
Supplement: ijms-22-04524-s001.zip › Supplementary_table_1.pdf
LBSL: Case Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected Presentations.
Stellingwerff MD et al.
Neurology. Genetics, 2021
The Leukodystrophy Spectrum in Saudi Arabia: Epidemiological, Clinical, Radiological, and Genetic Data.
Alfadhel M et al.
Frontiers in Pediatrics, 2021
The Leukodystrophies HBSL and LBSL-Correlates and Distinctions.
Muthiah A et al.
Frontiers in Cellular Neuroscience, 2020
Intra-familial phenotypic heterogeneity in a Sudanese family with DARS2-related leukoencephalopathy, brainstem and spinal cord involvement and lactate elevation: a case report.
Yahia A et al.
Bmc Neurology, 2018
Select a paper to view details