Associated Papers
ARSA Variants Associated With Cognitive Decline and Long-Term Preservation of Motor Function in Metachromatic Leukodystrophy.
Beerepoot S et al.
Journal of Inherited Metabolic Disease, 2025
Predicting disease severity in metachromatic leukodystrophy using protein activity and a patient phenotype matrix.
Trinidad M et al.
Genome Biology, 2023
37480112 (PubMed )
Supplement: 13059_2023_3001_MOESM1_ESM.xlsx › Table_S1
Association of rare variants in ARSA with Parkinson's disease.
Senkevich K et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
36993451 (PubMed )
Supplement: media-1.xlsx › S_tabl4_McGill_cohorts
Phenotypic variation between siblings with Metachromatic Leukodystrophy.
Elgün S et al.
Orphanet Journal of Rare Diseases, 2019
Enzymatic characterization of novel arylsulfatase A variants using human arylsulfatase A-deficient immortalized mesenchymal stromal cells.
Böhringer J et al.
Human Mutation, 2017
Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy.
Cesani M et al.
Human Mutation, 2016
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