Associated Papers
Recessive genomic and phenotypic variation in consanguineous families with cerebral palsy.
Bisarad P et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
41282771 (PubMed )
Supplement: media-1.xlsx › Supplementary_Table_3
Overview of genetic variants in a cohort of Iranian patients with leukodystrophy.
Fathi M et al.
Scientific Reports, 2025
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
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
Hypomyelinating Leukodystrophy with Spinal Cord Involvement Caused by a Novel Variant in RARS: Report of Two Unrelated Patients.
Rezaei Z et al.
Neuropediatrics, 2019
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