(Q34399088)

1 August 2017

1 reference

title

Naturally occurring mutations in GM2 gangliosidosis: a compendium (English)

1 reference

1 August 2017

1 reference

B Triggs-Raine

1

1 reference

1 August 2017

D J Mahuran

series ordinal

2

1 reference

1 August 2017

R A Gravel

series ordinal

3

1 reference

1 August 2017

publication date

1 January 2001

1 reference

1 August 2017

1 reference

1 August 2017

volume

44

1 reference

1 August 2017

page(s)

199-224

1 reference

Novel Tay-Sachs disease mutations from China

1 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944081-8

7 January 2021

A mutation common in non-Jewish Tay-Sachs disease: frequency and RNA studies

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944081-8

7 January 2021

Seven novel Tay-Sachs mutations detected by chemical mismatch cleavage of PCR-amplified cDNA fragments

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944081-8

7 January 2021

Collaborative study of the molecular epidemiology of Tay-Sachs disease in Europe

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944081-8

7 January 2021

A null allele frequent in non-Jewish Tay-Sachs patients

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944081-8

7 January 2021

Ten novel mutations in the HEXA gene in non-Jewish Tay-Sachs patients

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944081-8

7 January 2021

Identification of an altered splice site in Ashkenazi Tay-Sachs disease

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944081-8

7 January 2021

Molecular basis of an adult form of beta-hexosaminidase B deficiency with motor neuron disease

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944081-8

7 January 2021

Demonstration of a Sandhoff disease-associated autosomal 50-kb deletion by field inversion gel electrophoresis

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944081-8

7 January 2021

Distribution and characterization of a Sandhoff disease-associated 50-kb deletion in the gene encoding the human beta-hexosaminidase beta-chain

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944081-8

7 January 2021

Deletion of the 5'-region in one or two alleles of HEXB in 15 out of 30 patients with Sandhoff disease

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944081-8

7 January 2021

Ganglioside storage, hexosaminidase lability, and urinary oligosaccharides in adult Sandhoff's disease

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944081-8

7 January 2021

Molecular basis of an adult form of Sandhoff disease: substitution of glutamine for arginine at position 505 of the beta-chain of beta-hexosaminidase results in a labile enzyme

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944081-8

7 January 2021

Genetic cause of a juvenile form of Tay-Sachs disease in a Lebanese child

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944081-8

7 January 2021

Characterization of two HEXB gene mutations in Argentinean patients with Sandhoff disease

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944081-8

7 January 2021

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.

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944081-8

7 January 2021

Rat atrial secretory granules and pro-ANF processing enzyme

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944081-8

7 January 2021

The French Canadian Tay-Sachs disease deletion mutation: identification of probable founders

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944081-8

7 January 2021

Substitution of Alanine543 with a Threonine Residue at the Carboxy Terminal End of the β-Chain Is Associated with Thermolabile Hexosaminidase B in a Jewish Family of Oriental Ancestry

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944081-8

7 January 2021

Late-onset GM2 gangliosidosis: Ashkenazi Jewish family with an exon 5 mutation (Tyr180-->His) in the Hex A alpha-chain gene

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944081-8

7 January 2021

Sandhoff disease: 36 cases from Cordoba, Argentina

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944081-8

7 January 2021

Tay-Sachs disease in an Israeli Arab family: Trp26-->stop in the alpha-subunit of hexosaminidase A

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944081-8

7 January 2021

A new Tay-Sachs disease B1 allele in exon 7 in two compound heterozygotes each with a second novel mutation

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944081-8

7 January 2021

Specificity and sensitivity of hexosaminidase assays and DNA analysis for the detection of Tay-Sachs disease gene carriers among Ashkenazic Jews

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944081-8

7 January 2021

A 48-bp insertion between exon 13 and 14 of the HEXB gene causes infantile-onset Sandhoff disease

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944081-8

7 January 2021

A common beta hexosaminidase gene mutation in adult Sandhoff disease patients

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944081-8

7 January 2021

Tay-Sachs disease: B1 variant

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944081-8

7 January 2021

An Alu1- polymorphism in the HEXA gene is common in Ashkenazi and Sephardic Jews, Israeli Arabs, and French Canadians of Quebec and northern New England

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944081-8

7 January 2021

Mutation analysis of a Sandhoff disease patient in the Maronite community in Cyprus

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944081-8

7 January 2021

Two new mutations in a late infantile Tay-Sachs patient are both in exon 1 of the beta-hexosaminidase alpha subunit gene

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944081-8

7 January 2021

The intron 7 donor splice site transition: a second Tay-Sachs disease mutation in French Canada

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944081-8

7 January 2021

Tay-Sachs disease--carrier screening, prenatal diagnosis, and the molecular era. An international perspective, 1970 to 1993. The International TSD Data Collection Network

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944081-8

7 January 2021

A Pst+ polymorphism in the HEXA gene with an unusual geographic distribution

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944081-8

7 January 2021

Segregation within a family of two mutant alleles for hexosaminidase A

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944081-8

7 January 2021

Sandhoff disease in Argentina: high frequency of a splice site mutation in the HEXB gene and correlation between enzyme and DNA-based tests for heterozygote detection

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944081-8

7 January 2021

Characterization of full-length cDNAs and the gene coding for the human GM2 activator protein

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944081-8

7 January 2021

A novel missense mutation (C522Y) is present in the beta-hexosaminidase beta-subunit gene of a Japanese patient with infantile Sandhoff disease

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944081-8

7 January 2021

Beta-hexosaminidase splice site mutation has a high frequency among non-Jewish Tay-Sachs disease carriers from the British Isles

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944081-8

7 January 2021

Further investigation of the HEXA gene intron 9 donor splice site mutation frequently found in non-Jewish Tay-Sachs disease patients from the British Isles

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944081-8

7 January 2021

Quantitative correlation between the residual activity of beta-hexosaminidase A and arylsulfatase A and the severity of the resulting lysosomal storage disease

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944081-8

7 January 2021

Two small deletion mutations of the HEXB gene are present in DNA from a patient with infantile Sandhoff disease

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944081-8

7 January 2021

An unusual splicing mutation in the HEXB gene is associated with dramatically different phenotypes in patients from different racial backgrounds

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944081-8

7 January 2021

Juvenile Sandhoff disease: a Japanese patient carrying a mutation identical to that found earlier in a Canadian patient.

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944081-8

7 January 2021

Molecular basis of hexosaminidase A deficiency and pseudodeficiency in the Berks County Pennsylvania Dutch

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944081-8

7 January 2021

Different mutations in Ashkenazi Jewish and non-Jewish French Canadians with Tay-Sachs disease

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944081-8

7 January 2021

Evidence for two cDNA clones encoding human GM2-activator protein

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944081-8

7 January 2021

A point mutation in the coding sequence of the beta-hexosaminidase alpha gene results in defective processing of the enzyme protein in an unusual GM2-gangliosidosis variant

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944081-8

7 January 2021

A new point mutation within exon 5 of beta-hexosaminidase alpha gene in a Japanese infant with Tay-Sachs disease.

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944081-8

7 January 2021

The mutations in Ashkenazi Jews with adult GM2 gangliosidosis, the adult form of Tay-Sachs disease

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944081-8

7 January 2021

Hexosaminidase A deficiency in adults

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944081-8

7 January 2021

A new mutation in the HEXA gene associated with a spinal muscular atrophy phenotype

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944081-8

7 January 2021

Characterization of the human HEXB gene encoding lysosomal beta-hexosaminidase

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944081-8

7 January 2021

Structure and distribution of an Alu-type deletion mutation in Sandhoff disease

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944081-8

7 January 2021

Mutation in GM2-gangliosidosis B1 variant

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944081-8

7 January 2021

Spinocerebellar degeneration: Hexosaminidase A and B deficiency in two adult sisters

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944081-8

7 January 2021

Donor splice site mutation in intron 5 of the HEXA gene in a Turkish infant with Tay-Sachs disease

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944081-8

7 January 2021

GM2 gangliosidosis B1 variant: biochemical and molecular characterization of hexosaminidase A

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944081-8

7 January 2021

Molecular epidemiology of Tay-Sachs disease in Europe

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944081-8

7 January 2021

Synthesis of beta-hexosaminidase in cell-free translation and in intact fibroblasts: an insoluble precursor alpha chain in a rare form of Tay-Sachs disease

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944081-8

7 January 2021

GM2-ganglioside metabolism in cultured human skin fibroblasts: unambiguous diagnosis of GM2-gangliosidosis

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944081-8

7 January 2021

Significance of two point mutations present in each HEXB allele of patients with adult GM2 gangliosidosis (Sandhoff disease) homozygosity for the Ile207-->Val substitution is not associated with a clinical or biochemical phenotype.

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944081-8

7 January 2021

Tay-Sachs disease: intron 7 splice junction mutation in two Portuguese patients

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944081-8

7 January 2021

Clinical, enzymatic, and molecular characterisation of a Portuguese family with a chronic form of GM2-gangliosidosis B1 variant

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944081-8

7 January 2021

An A-to-G Mutation at the +3-Position of Intron-8 of the HEXA Gene Is Associated with Exon 8 Skipping and Tay-Sachs Disease

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944081-8

7 January 2021

Isolation of a cDNA encoding the human GM2 activator protein

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944081-8

7 January 2021

A mutation in the gene of a glycolipid-binding protein (GM2 activator) that causes GM2-gangliosidosis variant AB

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944081-8

7 January 2021

Molecular genetics of GM2-gangliosidosis AB variant: a novel mutation and expression in BHK cells

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944081-8

7 January 2021

An unusual genotype in an Ashkenazi Jewish patient with Tay-Sachs disease

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944081-8

7 January 2021

GM2-gangliosidosis B1 variant: a wide geographic and ethnic distribution of the specific beta-hexosaminidase alpha chain mutation originally identified in a Puerto Rican patient

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944081-8

7 January 2021

The major mutation among Japanese patients with infantile Tay-Sachs disease: a G-to-T transversion at the acceptor site of intron 5 of the beta-hexosaminidase alpha gene

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944081-8

7 January 2021

Molecular genetics of Tay-Sachs disease in Japan

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944081-8

7 January 2021

Bacterial chitobiase structure provides insight into catalytic mechanism and the basis of Tay-Sachs disease

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944081-8

7 January 2021

Nonuniform deficiency of hexosaminidase A in tissues and fluids of two unrelated individuals

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944081-8

7 January 2021

Three novel beta-hexosaminidase A mutations in obligate carriers of Tay-Sachs disease

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944081-8

7 January 2021

Screening for carriers of Tay-Sachs disease among Ashkenazi Jews. A comparison of DNA-based and enzyme-based tests

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944081-8

7 January 2021

A glycine250--> aspartate substitution in the alpha-subunit of hexosaminidase A causes juvenile-onset Tay-Sachs disease in a Lebanese-Canadian family

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944081-8

7 January 2021

Isolation and expression of a full-length cDNA encoding the human GM2 activator protein

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944081-8

7 January 2021

Comparison of enzyme and DNA analysis in a Tay-Sachs disease carrier screening program

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944081-8

7 January 2021

Impact of premature stop codons on mRNA levels in infantile Sandhoff disease

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944081-8

7 January 2021

A second, large deletion in the HEXB gene in a patient with infantile Sandhoff disease

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2944081-8

7 January 2021

10.1016/S0065-2660(01)44081-8

Identifiers

DOI

1 reference

1 August 2017

1 reference