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Article

A mutation of HEXB gene in Sandhoff disease presenting as motor neuron disease.

Neurology India - 1 Jan 2000

Ahn Suk-Won, Kim Su-Hyun, Hong Yoon-Ho, Lee Kwang-Woo, Sung Jung-Joon

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Identifiers

PMID: 21150067
DOI: 10.4103/0028-3886.73755

Genes

HEXB

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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A mutation of HEXB gene in Sandhoff disease presenting as motor neuron disease.PMID 21150067Read ↗

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Clinical, biochemical and mutation profile in Indian patients with Sandhoff disease.Semantic proximity Read ↗

Compound heterozygosity with two novel mutations in the HEXB gene produces adult Sandhoff disease presenting as a motor neuron disease phenotype.Semantic proximity Read ↗

Homozygous p.R284* mutation in HEXB gene causing Sandhoff disease with nystagmus.Semantic proximity Read ↗

Case of late-onset Sandhoff disease due to a novel mutation in the HEXB geneSemantic proximity Read ↗

Late onset Sandhoff disease presenting with lower motor neuron disease and stuttering.Semantic proximity Read ↗

A 23-year follow-up report of juvenile-onset Sandhoff disease presenting with a motor neuron disease phenotype and a novel variant.Semantic proximity Read ↗

Characterization of seven novel mutations on the HEXB gene in French Sandhoff patients.Semantic proximity Read ↗

P. Ala278Val mutation might cause a pathogenic defect in HEXB folding leading to the Sandhoff disease.Semantic proximity Read ↗

Comprehensive Analysis of <i>HEXB</i> Protein Reveal Forty Two Novel nsSNPs That May Lead to Sandhoff disease (SD) Using BioinformaticsSemantic proximity Read ↗

Molecular and functional analysis of the HEXB gene in Italian patients affected with Sandhoff disease: identification of six novel alleles.Semantic proximity Read ↗

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