Associated Papers
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
40791678 (PubMed )
Supplement: media-2.xlsx › Table_S12_ClinVar_PLP_variants
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
Molecular Pathogenic Mechanisms of Hypomyelinating Leukodystrophies (HLDs).
Torii T et al.
Neurology International, 2023
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
Hypomyelinating leukodystrophies in adults: Clinical and genetic features.
Di Bella D et al.
European Journal of Neurology, 2021
Novel Mutations in NPC1 are Associated with Pelizaeus-Merzbacher-Like Disease: A Case Report.
Fu H et al.
International Journal of General Medicine, 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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