Associated Papers
Advances in Diagnosis, Pathological Mechanisms, Clinical Impact, and Future Therapeutic Perspectives in Tay-Sachs Disease.
González-Sánchez M et al.
Neurology International, 2025
ALS Identified: two-year findings from a sponsored ALS genetic testing program.
Goutman SA et al.
Annals of Clinical and Translational Neurology, 2024
Multi-omics analysis identifies osteosarcoma subtypes with distinct prognosis indicating stratified treatment.
Jiang Y et al.
Nature Communications, 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
Comprehensive Study of Germline Mutations and Double-Hit Events in Esophageal Squamous Cell Cancer.
Zeng B et al.
Frontiers in Oncology, 2021
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
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
Lysosomal storage diseases.
Ferreira CR et al.
Translational Science of Rare Diseases, 2017
Tay-Sachs Carrier Screening by Enzyme and Molecular Analyses in the New York City Minority Population.
Mehta N et al.
Genetic Testing and Molecular Biomarkers, 2016
Increase of a group of PTC(+) transcripts by curcumin through inhibition of the NMD pathway.
Feng D et al.
Biochimica Et Biophysica Acta, 2015
Gene-wise association of variants in four lysosomal storage disorder genes in neuropathologically confirmed Lewy body disease.
Clark LN et al.
Plos One, 2015
Burden of lysosomal storage disorders in India: experience of 387 affected children from a single diagnostic facility.
Sheth J et al.
Jimd Reports, 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
Platelet hexosaminidase a enzyme assay effectively detects carriers missed by targeted DNA mutation analysis.
Nakagawa S et al.
Jimd Reports, 2012
Lysosomal storage disorders: molecular basis and laboratory testing.
Filocamo M et al.
Human Genomics, 2011
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
Population-based Tay-Sachs screening among Ashkenazi Jewish young adults in the 21st century: Hexosaminidase A enzyme assay is essential for accurate testing.
Schneider A et al.
American Journal of Medical Genetics. Part A, 2009
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
Multiplexed fluorescence analysis for mutations causing Tay-Sachs disease.
Stockley TL et al.
Methods in Molecular Biology (clifton, N.j.), 2003
A novel mutation in the HEXA gene specific to Tay-Sachs disease carriers of Jewish Iraqi origin.
Karpati M et al.
Clinical Genetics, 2000
Tay-Sachs disease carrier screening: a model for prevention of genetic disease.
Kaplan F
Genetic Testing, 1998
W474C amino acid substitution affects early processing of the alpha-subunit of beta-hexosaminidase A and is associated with subacute G(M2) gangliosidosis.
Petroulakis E et al.
Human Mutation, 1998
Benign HEXA mutations, C739T(R247W) and C745T(R249W), cause beta-hexosaminidase A pseudodeficiency by reducing the alpha-subunit protein levels.
Cao Z et al.
The Journal of Biological Chemistry, 1997
Novel mutations and DNA-based screening in non-Jewish carriers of Tay-Sachs disease.
Akerman BR et al.
American Journal of Human Genetics, 1997
Tay-Sachs disease-causing mutations and neutral polymorphisms in the Hex A gene.
Myerowitz R
Human Mutation, 1997
Tay-Sachs disease and HEXA mutations among Moroccan Jews.
Kaufman M et al.
Human Mutation, 1997
Heterozygosity for Tay-Sachs disease in non-Jewish Americans with ancestry from Ireland or Great Britain.
van Bael M et al.
Journal of Medical Genetics, 1996
Bacterial chitobiase structure provides insight into catalytic mechanism and the basis of Tay-Sachs disease.
Tews I et al.
Nature Structural Biology, 1996
Population-specific screening by mutation analysis for diseases frequent in Ashkenazi Jews.
DeMarchi JM et al.
Human Mutation, 1996
Mutational analyses of Tay-Sachs disease: studies on Tay-Sachs carriers of French Canadian background living in New England.
Triggs-Raine B et al.
American Journal of Human Genetics, 1995
A novel mutation at the invariant acceptor splice site of intron 9 in the HEXA gene [IVS9-1 G-->T] detected by a PCR-based diagnostic test.
Brown DH et al.
Human Mutation, 1995
A second mutation associated with apparent beta-hexosaminidase A pseudodeficiency: identification and frequency estimation.
Cao Z et al.
American Journal of Human Genetics, 1993
Tay-Sachs disease screening and diagnosis: evolving technologies.
Hechtman P et al.
Dna and Cell Biology, 1993
A pseudodeficiency allele common in non-Jewish Tay-Sachs carriers: implications for carrier screening.
Triggs-Raine BL et al.
American Journal of Human Genetics, 1992
Molecular basis of hexosaminidase A deficiency and pseudodeficiency in the Berks County Pennsylvania Dutch.
Mules EH et al.
Human Mutation, 1992
A mutation common in non-Jewish Tay-Sachs disease: frequency and RNA studies.
Akerman BR et al.
Human Mutation, 1992
Screening people of Jewish origin for Tay-Sachs disease carriers.
Hecht F
Arizona Medicine, 1981
Tay-Sachs disease in a Moroccan Jewish family: a possible new mutation.
Bach G et al.
Israel Journal of Medical Sciences, 1976
Arylsulfatase A pseudodeficiency: altered kinetic and heat-inactivation properties.
Qu Y et al.
Genetic Testing, 0
Eight novel mutations in the HEXA gene.
McGinniss MJ et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 0
Determination of frequencies of alleles, associated with the pseudodeficiency of lysosomal hydrolases, in population of Ukraine.
Olkhovych NV et al.
Ukrainian Biochemical Journal, 0