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
ALS Identified: two-year findings from a sponsored ALS genetic testing program.
Goutman SA et al.
Annals of Clinical and Translational Neurology, 2024
Incidental and secondary findings in trio exome sequencing.
Cohen C et al.
Genes & Diseases, 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
Late-onset Tay-Sachs disease presenting with a neuromuscular phenotype-a case series.
Fullam S et al.
European Journal of Neurology, 2024
Shortcomings of ethnicity-based carrier screening for conditions associated with Ashkenazi Jewish ancestry.
Llorin H et al.
Genetics in Medicine Open, 2024
Lipid-Lowering Drug Gemfibrozil Protects Mice from Tay-Sachs Disease via Peroxisome Proliferator-Activated Receptor α.
Raha S et al.
Cells, 2023
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
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
Late-Onset Tay-Sachs Disease in an Irish Family.
Lefter S et al.
Movement Disorders Clinical Practice, 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
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
Distinct progression patterns of brain disease in infantile and juvenile gangliosidoses: Volumetric quantitative MRI study.
Nestrasil I et al.
Molecular Genetics and Metabolism, 2018
Infantile gangliosidoses: Mapping a timeline of clinical changes.
Jarnes Utz JR et al.
Molecular Genetics and Metabolism, 2017
Genomic diagnosis for children with intellectual disability and/or developmental delay.
Bowling KM et al.
Genome Medicine, 2017
Expanding the spectrum of HEXA mutations in Indian patients with Tay-Sachs disease.
Sheth J et al.
Molecular Genetics and Metabolism Reports, 2014
Next-generation DNA sequencing of HEXA: a step in the right direction for carrier screening.
Hoffman JD et al.
Molecular Genetics & Genomic Medicine, 2013
GM2 gangliosidoses in Spain: analysis of the HEXA and HEXB genes in 34 Tay-Sachs and 14 Sandhoff patients.
Gort L et al.
Gene, 2012
Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India.
Mistri M et al.
Plos One, 2012
Platelet hexosaminidase a enzyme assay effectively detects carriers missed by targeted DNA mutation analysis.
Nakagawa S et al.
Jimd Reports, 2012
Two novel exonic point mutations in HEXA identified in a juvenile Tay-Sachs patient: role of alternative splicing and nonsense-mediated mRNA decay.
Levit A et al.
Molecular Genetics and Metabolism, 2010
Rapid identification of HEXA mutations in Tay-Sachs patients.
Giraud C et al.
Biochemical and Biophysical Research Communications, 2010
Improving accuracy of Tay Sachs carrier screening of the non-Jewish population: analysis of 34 carriers and six late-onset patients with HEXA enzyme and DNA sequence analysis.
Park NJ et al.
Pediatric Research, 2010
Pyrimethamine as a potential pharmacological chaperone for late-onset forms of GM2 gangliosidosis.
Maegawa GH et al.
The Journal of Biological Chemistry, 2007
Molecular analysis of the HEXA gene in Italian patients with infantile and late onset Tay-Sachs disease: detection of fourteen novel alleles.
Montalvo AL et al.
Human Mutation, 2005
Severe subacute GM2 gangliosidosis caused by an apparently silent HEXA mutation (V324V) that results in aberrant splicing and reduced HEXA mRNA.
Wicklow BA et al.
American Journal of Medical Genetics. Part A, 2004
A novel HEXA mutation [1393G>A (D465N)] in a Mexican Tay-Sachs disease patient.
Alvarez-Rodríguez A et al.
Human Mutation, 2001
The GM2 gangliosidoses databases: allelic variation at the HEXA, HEXB, and GM2A gene loci.
Cordeiro P et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 0
Juvenile Tay Sachs Disease Due to Compound Heterozygous Mutation in Hex-A Gene, with Early Sign of Bilateral Tremors.
Sheth J et al.
Annals of Indian Academy of Neurology, 0