Associated Papers
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Simultaneous surgery for gastrostomy and laryngotracheal separation in a patient with Tay‒Sachs disease.
Moroto M et al.
Human Genome Variation, 2024
Analysis of the HEXA, HEXB, ARSA, and SMPD1 Genes in 68 Iranian Patients.
Abtahi R et al.
Journal of Molecular Neuroscience : Mn, 2022
In-silico screening and microsecond molecular dynamics simulations to identify single point mutations that destabilize β-hexosaminidase A causing Tay-Sachs disease.
Almanasra A et al.
Proteins, 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
Genotype-phenotype correlation of gangliosidosis mutations using in silico tools and homology modeling.
Ou L et al.
Molecular Genetics and Metabolism Reports, 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
Burden of lysosomal storage disorders in India: experience of 387 affected children from a single diagnostic facility.
Sheth J et al.
Jimd Reports, 2014
Molecular study of lysosomal storage disorders in India.
Sheth J
Molecular Cytogenetics, 2014
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
Structural consequences of amino acid substitutions causing Tay-Sachs disease.
Ohno K et al.
Molecular Genetics and Metabolism, 2008
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
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
Novel mutations, including the second most common in Japan, in the beta-hexosaminidase alpha subunit gene, and a simple screening of Japanese patients with Tay-Sachs disease.
Tanaka A et al.
Journal of Human Genetics, 1999
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
Identification of candidate active site residues in lysosomal beta-hexosaminidase A.
Fernandes MJ et al.
The Journal of Biological Chemistry, 1997
Tay-Sachs disease-causing mutations and neutral polymorphisms in the Hex A gene.
Myerowitz R
Human Mutation, 1997
Heterozygosity for Tay-Sachs and Sandhoff diseases among Massachusetts residents with French Canadian background.
Prence EM et al.
Journal of Medical Screening, 1997
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
Tay-Sachs disease screening and diagnosis: evolving technologies.
Hechtman P et al.
Dna and Cell Biology, 1993
A new Tay-Sachs disease B1 allele in exon 7 in two compound heterozygotes each with a second novel mutation.
Fernandes M et al.
Human Molecular Genetics, 1992