Associated Papers
RARS1-related hypomyelinating leukodystrophy-9 (HLD-9) in two distinct Iranian families: Case report and literature review.
Biglari S et al.
Molecular Genetics & Genomic Medicine, 2024
RARS1-related developmental and epileptic encephalopathy.
Wan L et al.
Epilepsia Open, 2023
37186453 (PubMed )
Supplement: EPI4-8-867-s001.docx
Distinct pathogenic mechanisms of various RARS1 mutations in Pelizaeus-Merzbacher-like disease.
Li G et al.
Science China. Life Sciences, 2021
RARS1-related hypomyelinating leukodystrophy: Expanding the spectrum.
Mendes MI et al.
Annals of Clinical and Translational Neurology, 2020
Mutations in RARS cause a hypomyelination disorder akin to Pelizaeus-Merzbacher disease.
Nafisinia M et al.
European Journal of Human Genetics : Ejhg, 2017
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