Associated Papers
Multiancestry brain pQTL fine-mapping and integration with genome-wide association studies of 21 neurologic and psychiatric conditions.
Wingo AP et al.
Nature Genetics, 2025
Metachromatic Leukodystrophy in Morocco: Identification of Causative Variants by Next-Generation Sequencing (NGS).
Hammoud M et al.
Genes, 2024
Evaluation of enzyme activity predictions for variants of unknown significance in Arylsulfatase A.
Jain S et al.
Biorxiv : the Preprint Server for Biology, 2024
Improving newborn screening test performance for metachromatic leukodystrophy: Recommendation from a pre-pilot study that identified a late-infantile case for treatment.
Wu THY et al.
Molecular Genetics and Metabolism, 2024
Etiologic Spectrum of Pediatric-Onset Leukodystrophies and Genetic Leukoencephalopathies: The Five-Year Experience of a Tertiary Care Center in Southern India.
Nair LS et al.
Pediatric Neurology, 2024
Newborn screening in metachromatic leukodystrophy - European consensus-based recommendations on clinical management.
Laugwitz L et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2024
Complex genotypes in family with metachromatic leukodystrophy: Effect of trans and cis mutations distribution on the phenotype variability.
Ben Issa A et al.
International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 2024
Predicting disease severity in metachromatic leukodystrophy using protein activity and a patient phenotype matrix.
Trinidad M et al.
Genome Biology, 2023
Extremely low arylsulfatase A enzyme activity does not necessarily cause symptoms: A long-term follow-up and review of the literature.
Laugwitz L et al.
Jimd Reports, 2022
Exploiting the Potential of Drosophila Models in Lysosomal Storage Disorders: Pathological Mechanisms and Drug Discovery.
Rigon L et al.
Biomedicines, 2021
Toward newborn screening of metachromatic leukodystrophy: results from analysis of over 27,000 newborn dried blood spots.
Hong X et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Comprehensive clinical, biochemical, radiological and genetic analysis of 28 Turkish cases with suspected metachromatic leukodystrophy and their relatives.
Pekgül F et al.
Molecular Genetics and Metabolism Reports, 2020
Arylsulfatase A (ASA) in Parkinson's Disease: From Pathogenesis to Biomarker Potential.
Angelopoulou E et al.
Brain Sciences, 2020
Metachromatic leukodystrophy genotypes in The Netherlands reveal novel pathogenic ARSA variants in non-Caucasian patients.
Beerepoot S et al.
Neurogenetics, 2020
Genetic analysis of arylsulfatase A (ARSA) in Chinese patients with Parkinson's disease.
Ruan Y et al.
Neuroscience Letters, 2020
Arylsulfatase A pseudodeficiency in Mexico: Enzymatic activity and haplotype analysis.
Juárez-Osuna JA et al.
Molecular Genetics & Genomic Medicine, 2020
An Italian family carrying a new mutation in the COL4A1 gene.
Russo A et al.
Journal of the Neurological Sciences, 2020
Chaperones and Proteostasis: Role in Parkinson's Disease.
Joshi N et al.
Diseases (basel, Switzerland), 2020
ARSA gene variants and Parkinson's disease.
Fan Y et al.
Brain : a Journal of Neurology, 2020
Reply: ARSA gene variants and Parkinson's disease.
Lee SJ et al.
Brain : a Journal of Neurology, 2020
Leukocyte and Dried Blood Spot Arylsulfatase A Assay by Tandem Mass Spectrometry.
Hong X et al.
Analytical Chemistry, 2020
A perspective on research, diagnosis, and management of lysosomal storage disorders in Colombia.
Puentes-Tellez MA et al.
Heliyon, 2020
Lysosomal Ceramide Metabolism Disorders: Implications in Parkinson's Disease.
Paciotti S et al.
Journal of Clinical Medicine, 2020
Correction to: Three novel variants in the arylsulfatase A (ARSA) gene in patients with metachromatic leukodystrophy (MLD).
Hettiarachchi D et al.
Bmc Research Notes, 2020
ARSA variants in α-synucleinopathies.
Makarious MB et al.
Brain : a Journal of Neurology, 2019
Three novel variants in the arylsulfatase A (ARSA) gene in patients with metachromatic leukodystrophy (MLD).
Hettiarachchi D et al.
Bmc Research Notes, 2019
Arylsulfatase A, a genetic modifier of Parkinson's disease, is an α-synuclein chaperone.
Lee JS et al.
Brain : a Journal of Neurology, 2019
Two siblings with metachromatic leukodystrophy caused by a novel identified homozygous mutation in the ARSA gene.
Aslan M et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2018
Arylsulphatase A Pseudodeficiency (ARSA-PD), hypertension and chronic renal disease in Aboriginal Australians.
Tang D et al.
Scientific Reports, 2018
Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy.
Cesani M et al.
Human Mutation, 2016
Late infantile metachromatic leukodystrophy: Clinical manifestations of five Taiwanese patients and Genetic features in Asia.
Liaw HR et al.
Orphanet Journal of Rare Diseases, 2015
Biochemical and Genetic Analysis of Seven Korean Individuals With Suspected Metachromatic Leukodystrophy.
Han M et al.
Annals of Laboratory Medicine, 2015
Mutations in HPCA cause autosomal-recessive primary isolated dystonia.
Charlesworth G et al.
American Journal of Human Genetics, 2015
Case of multiple sulfatase deficiency and ocular albinism: a diagnostic odyssey.
Prasad C et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2014
Determination of frequencies of alleles, associated with the pseudodeficiency of lysosomal hydrolases, in population of Ukraine.
Olkhovych NV et al.
Ukrainian Biochemical Journal, 0