Associated Papers
Spectrum of Genetic Mutations Among Iranian Patients with Gangliosidosis.
Khalilian S et al.
Biochemical Genetics, 2025
The genetic basis of early-onset hereditary ataxia in Iran: results of a national registry of a heterogeneous population.
Mahdieh N et al.
Human Genomics, 2024
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
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
The juvenile gangliosidoses: A timeline of clinical change.
King KE et al.
Molecular Genetics and Metabolism Reports, 2020
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
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
Three novel mutations in Iranian patients with Tay-Sachs disease.
Jamali S et al.
Iranian Biomedical Journal, 2014
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
GM2 gangliosidosis in Saudi Arabia: multiple mutations and considerations for future carrier screening.
Kaya N et al.
American Journal of Medical Genetics. Part A, 2011
Rapid identification of HEXA mutations in Tay-Sachs patients.
Giraud C et al.
Biochemical and Biophysical Research Communications, 2010
Structural consequences of amino acid substitutions causing Tay-Sachs disease.
Ohno K et al.
Molecular Genetics and Metabolism, 2008
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 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
Tay-Sachs disease-causing mutations and neutral polymorphisms in the Hex A gene.
Myerowitz R
Human Mutation, 1997
Tay-Sachs disease screening and diagnosis: evolving technologies.
Hechtman P et al.
Dna and Cell Biology, 1993
A glycine250--> aspartate substitution in the alpha-subunit of hexosaminidase A causes juvenile-onset Tay-Sachs disease in a Lebanese-Canadian family.
Trop I et al.
Human Mutation, 1992
Neurodegeneration with Progressive Dystonia: Juvenile-Onset Tay-Sachs Disease.
Kaur J et al.
Annals of Indian Academy of Neurology, 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