Associated Papers
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
Efficacy and safety of miglustat in the treatment of GM2 gangliosidosis: A systematic review.
Mansouri V et al.
European Journal of Neurology, 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
Genetic testing of leukodystrophies unraveling extensive heterogeneity in a large cohort and report of five common diseases and 38 novel variants.
Mahdieh N et al.
Scientific Reports, 2021
The juvenile gangliosidoses: A timeline of clinical change.
King KE et al.
Molecular Genetics and Metabolism Reports, 2020
Identification of novel variants in a large cohort of children with Tay-Sachs disease: An initiative of a multicentric task force on lysosomal storage disorders by Government of India.
Mistri M et al.
Journal of Human Genetics, 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
Screening for Tay-Sachs disease carriers by full-exon sequencing with novel variant interpretation outperforms enzyme testing in a pan-ethnic cohort.
Cecchi AC et al.
Molecular Genetics & Genomic Medicine, 2019
31293106 (PubMed )
Supplement: MGG3-7-e836-s002.xlsx › Table_S5._Ethnicity-specific_va
Select a paper to view details