Associated Papers
Genomic alterations in normal breast tissues preceding breast cancer diagnosis.
Dai J et al.
Breast Cancer Research : Bcr, 2025
ALS Identified: two-year findings from a sponsored ALS genetic testing program.
Goutman SA et al.
Annals of Clinical and Translational Neurology, 2024
Decoding Neurodegeneration: A Comprehensive Review of Molecular Mechanisms, Genetic Influences, and Therapeutic Innovations.
Voicu V et al.
International Journal of Molecular Sciences, 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
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
In silico analysis of the effects of disease-associated mutations of β-hexosaminidase A in Tay-Sachs disease.
Ihsan Fazal M et al.
Journal of 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
Tay-Sachs disease mutations in HEXA target the α chain of hexosaminidase A to endoplasmic reticulum-associated degradation.
Dersh D et al.
Molecular Biology of the Cell, 2016
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
Tay-Sachs screening in the Jewish Ashkenazi population: DNA testing is the preferred procedure.
Bach G et al.
American Journal of Medical Genetics, 2001
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
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
Bacterial chitobiase structure provides insight into catalytic mechanism and the basis of Tay-Sachs disease.
Tews I et al.
Nature Structural Biology, 1996
Tay-Sachs disease screening and diagnosis: evolving technologies.
Hechtman P et al.
Dna and Cell Biology, 1993
Tay-Sachs disease in a Moroccan Jewish family: a possible new mutation.
Bach G et al.
Israel Journal of Medical Sciences, 1976