Associated Papers
Generation of mice with combined Hexa Gly269Ser KI or KO and Neu3 KO alleles to create new models of GM2 gangliosidoses.
Barker EN et al.
Biology Open, 2025
Generation of three human induced pluripotent stem cell (hiPSC) lines from patients with Late-Onset Tay-Sachs disease (HEXA-related adult-onset GM2-gangliosidosis).
Fernández-Eulate G et al.
Stem Cell Research, 2025
CNS-targeted base editing of the major late-onset Tay-Sachs mutation alleviates disease in mice.
Allende ML et al.
The Journal of Clinical Investigation, 2025
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
Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.
Zech M et al.
Brain : a Journal of Neurology, 2025
Precise template-free correction restores gene function in Tay-Sachs disease while reframing is ineffective.
Hung JE et al.
Molecular Therapy. Nucleic Acids, 2025
Cognitive decline in an adult with ATR-16 syndrome due to an unbalanced translocation between 11p15.5 and 16p13.3: a case report.
Krutish A et al.
Frontiers in Genetics, 2025
Diagnosing Late-Onset Tay-Sachs Through Next Generation Sequencing and Functional Enzyme Testing: From Genes to Enzymes.
Tupil AR et al.
Neurology. Genetics, 2024
ALS Identified: two-year findings from a sponsored ALS genetic testing program.
Goutman SA et al.
Annals of Clinical and Translational Neurology, 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
Novel HexA splice site mutations in a patient with late atypical onset Tay-Sachs disease: importance of combined NGS and biochemical analysis.
Bilyalova A et al.
Frontiers in Neurology, 2024
Shortcomings of ethnicity-based carrier screening for conditions associated with Ashkenazi Jewish ancestry.
Llorin H et al.
Genetics in Medicine Open, 2024
Efficacy and safety of miglustat in the treatment of GM2 gangliosidosis: A systematic review.
Mansouri V et al.
European Journal of Neurology, 2023
Biochemical and mutational analyses of HEXA in a cohort of Egyptian patients with infantile Tay-Sachs disease. Expansion of the mutation spectrum.
Ibrahim DMA et al.
Orphanet Journal of Rare Diseases, 2023
GM2 gangliosidosis AB variant: first case of late onset and review of the literature.
Ganne B et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022
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
Diagnostic Tips from a Video Series and Literature Review of Patients with Late-Onset Tay-Sachs Disease.
Riboldi GM et al.
Tremor and Other Hyperkinetic Movements (new York, N.y.), 2022
A Comprehensive, Targeted NGS Approach to Assessing Molecular Diagnosis of Lysosomal Storage Diseases.
La Cognata V et al.
Genes, 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
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
Germline TTN variants are enriched in PTEN-wildtype Bannayan-Riley-Ruvalcaba syndrome.
Yehia L et al.
Npj Genomic Medicine, 2017
Cerebellar atrophy and muscle weakness: late-onset Tay-Sachs disease outside Jewish populations.
Steiner KM et al.
Bmj Case Reports, 2016
Clinical applications and implications of common and founder mutations in Indian subpopulations.
Ankala A et al.
Human Mutation, 2015
Three novel mutations in Iranian patients with Tay-Sachs disease.
Jamali S et al.
Iranian Biomedical Journal, 2014
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
Late onset GM2 gangliosidosis mimicking spinal muscular atrophy.
Jamrozik Z et al.
Gene, 2013
High-throughput carrier screening using TaqMan allelic discrimination.
Fedick A et al.
Plos One, 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
Molecular analysis of HEXA gene in Argentinean patients affected with Tay-Sachs disease: possible common origin of the prevalent c.459+5A>G mutation.
Zampieri S 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
Tay-Sachs disease in an Arab family due to c.78G>A HEXA nonsense mutation encoding a p.W26X early truncation enzyme peptide.
Haghighi A et al.
Molecular Genetics and Metabolism, 2011
Identification of two HEXA mutations causing infantile-onset Tay-Sachs disease in the Persian population.
Haghighi A et al.
Journal of Human Genetics, 2011
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
Evaluation of the risk for Tay-Sachs disease in individuals of French Canadian ancestry living in new England.
Martin DC et al.
Clinical Chemistry, 2007
Common HEXB polymorphisms reduce serum HexA and HexB enzymatic activities, potentially masking Tay-Sachs disease carrier identification.
Vallance H et al.
Molecular Genetics and Metabolism, 2006
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