Associated Papers
Similarities and Differences in the Late-Onset GM2 Gangliosidoses: Tay-Sachs and Sandhoff Diseases.
Lewis CJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Previously defined variants of uncertain significance may play an important role in epilepsy and interactions between certain variants may become pathogenic.
Hussein Y et al.
Epilepsia Open, 2024
Quantitative brain morphometry identifies cerebellar, cortical, and subcortical gray and white matter atrophy in late-onset Tay-Sachs disease.
Májovská J et al.
Journal of Inherited Metabolic Disease, 2024
Unraveling the genetic landscape of undiagnosed cerebellar ataxia in Brazilian patients.
Novis LE et al.
Parkinsonism & Related Disorders, 2024
Lipid-Lowering Drug Gemfibrozil Protects Mice from Tay-Sachs Disease via Peroxisome Proliferator-Activated Receptor α.
Raha S et al.
Cells, 2023
Pontocerebellar atrophy is the hallmark neuroradiological finding in late-onset Tay-Sachs disease.
Májovská J et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022
Tay-Sachs Disease: Two Novel Rare HEXA Mutations from Pakistan and Morocco.
Bibi F et al.
Klinische Padiatrie, 2021
Magnetic resonance imaging and spectroscopy in late-onset GM2-gangliosidosis.
Rowe OE et al.
Molecular Genetics and Metabolism, 2021
Novel HEXA variants in Korean children with Tay-Sachs disease with regression of neurodevelopment from infancy.
Park JH et al.
Molecular Genetics & Genomic Medicine, 2021
Genetic ancestry analysis on >93,000 individuals undergoing expanded carrier screening reveals limitations of ethnicity-based medical guidelines.
Kaseniit KE et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Natural History of Adult Patients with GM2 Gangliosidosis.
Masingue M et al.
Annals of Neurology, 2020
Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.
Xiang J et al.
Scientific Reports, 2020
Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility.
Cheema H et al.
Npj Genomic Medicine, 2020
Genotype-phenotype correlation of gangliosidosis mutations using in silico tools and homology modeling.
Ou L et al.
Molecular Genetics and Metabolism Reports, 2019
Amyotrophy, cerebellar impairment and psychiatric disease are the main symptoms in a cohort of 14 Czech patients with the late-onset form of Tay-Sachs disease.
Jahnová H et al.
Journal of Neurology, 2019
Clinical implementation of gene panel testing for lysosomal storage diseases.
Gheldof A et al.
Molecular Genetics & Genomic Medicine, 2019
Genomic diagnosis for children with intellectual disability and/or developmental delay.
Bowling KM et al.
Genome Medicine, 2017