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
Long-Term Effects of Atidarsagene Autotemcel for Metachromatic Leukodystrophy.
Fumagalli F et al.
The New England Journal of Medicine, 2025
Evaluation of enzyme activity predictions for variants of unknown significance in Arylsulfatase A.
Jain S et al.
Biorxiv : the Preprint Server for Biology, 2024
Predicting disease severity in metachromatic leukodystrophy using protein activity and a patient phenotype matrix.
Trinidad M et al.
Genome Biology, 2023
Zebra-Sphinx: Modeling Sphingolipidoses in Zebrafish.
Mignani L et al.
International Journal of Molecular Sciences, 2023
Spectrum of ARSA variations in Asian Indian patients with Arylsulfatase A deficient metachromatic leukodystrophy.
Narayanan DL et al.
Journal of Human Genetics, 2019
Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy.
Cesani M et al.
Human Mutation, 2016
Late-Onset Metachromatic Leukodystrophy with Early Onset Dementia Associated with a Novel Missense Mutation in the Arylsulfatase A Gene.
Stoeck K et al.
Journal of Alzheimer's Disease : Jad, 2016
Sixteen novel mutations in the arylsulfatase A gene causing metachromatic leukodystrophy.
Luzi P et al.
Gene, 2013
Developing therapeutic approaches for metachromatic leukodystrophy.
Patil SA et al.
Drug Design, Development and Therapy, 2013
Molecular and structural analysis of metachromatic leukodystrophy patients in Indian population.
Shukla P et al.
Journal of the Neurological Sciences, 2011
An unusual homozygous arylsulfatase: a pseudodeficiency in a metachromatic leukodystrophy Tunisian patient.
Tinsa F et al.
Journal of Child Neurology, 2010
Characterization of new arylsulfatase A gene mutations reinforces genotype-phenotype correlation in metachromatic leukodystrophy.
Cesani M et al.
Human Mutation, 2009
Molecular analysis of ARSA and PSAP genes in twenty-one Italian patients with metachromatic leukodystrophy: identification and functional characterization of 11 novel ARSA alleles.
Grossi S et al.
Human Mutation, 2008
Metachromatic leukodystrophy - mutation analysis provides further evidence of genotype-phenotype correlation.
Biffi A et al.
Clinical Genetics, 2008
Infantile metachromatic leukodystrophy (MLD) in a compound heterozygote for the c.459 + 1G > A mutation and a complete deletion of the ARSA gene.
Eng B et al.
American Journal of Medical Genetics. Part A, 2004
Identification of nine novel arylsulfatase a (ARSA) gene mutations in patients with metachromatic leukodystrophy (MLD).
Eng B et al.
Human Mutation, 2003
Disease-causing mutations in cis with the common arylsulfatase A pseudodeficiency allele compound the difficulties in accurately identifying patients and carriers of metachromatic leukodystrophy.
Rafi MA et al.
Molecular Genetics and Metabolism, 2003