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

No abstract is available for this paper.

• Publication year

  2002

• Venue

  Journal of Neurological Sciences

• Publication date

  2002-03-30

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1016/S0022-510X(02)00007-2PMID 11897243
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• [Adult Sandhoff disease presented as a motor neuron disease phenotype with slow progression].

  2001cited by this paper
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  1998cited by this paper
• Mendelian Inheritance in Man: A Catalog of Human Genes and Genetic Disorders

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• The Molecular and Genetic Basis of Neurological Disease

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  1996cited by this paper
• Identification of an active acidic residue in the catalytic site of beta-hexosaminidase.

  1996cited by this paper
• A common beta hexosaminidase gene mutation in adult Sandhoff disease patients.

  1995cited by this paper
• The primary structure of an Entamoeba histolytica beta-hexosaminidase A subunit.

  1995cited by this paper
• A New Mutation in the HEXA Gene Associated With a Spinal Muscular Atrophy Phenotype

  1995cited by this paper
• A common β hexosaminidase gene mutation in adult Sandhoff disease patients

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  1994cited by this paper
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  1994cited by this paper
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  1994cited by this paper
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  1993cited by this paper
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  1992cited by this paper
• An unusual splicing mutation in the HEXB gene is associated with dramatically different phenotypes in patients from different racial backgrounds.

  1992cited by this paper
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  1992cited by this paper
• Molecular basis of an adult form of beta-hexosaminidase B deficiency with motor neuron disease.

  1991cited by this paper
• Juvenile Sandhoff disease: a Japanese patient carrying a mutation identical to that found earlier in a Canadian patient.

  1990cited by this paper
• The juvenile and chronic forms of GM2 gangliosidosis

  1990cited by this paper
• Two mutations produce intron insertion in mRNA and elongated beta-subunit of human beta-hexosaminidase.

  1990cited by this paper
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  1989cited by this paper
• Introduction of the alpha subunit mutation associated with the B1 variant of Tay-Sachs disease into the beta subunit produces a beta-hexosaminidase B without catalytic activity.

  1989cited by this paper
• Characterization of the human HEXB gene encoding lysosomal beta-hexosaminidase.

  1988cited by this paper
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  1988cited by this paper
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  1988cited by this paper
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  1988cited by this paper
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  1986cited by this paper
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  1985cited by this paper
• Motor neuron disease and adult hexosaminidase a deficiency in two families: Evidence for multisystem degeneration

  1985cited by this paper
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  1985cited by this paper
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  1984cited by this paper
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  1982cited by this paper
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  1981cited by this paper
• [38] Isolation of fibroblasts from patients

  1979cited by this paper
• Isolation of fibroblasts from patients.

  1979cited by this paper
• [117] Thermal fractionation of serum hexosaminidases: Applications to heterozygote detection and diagnosis of Tay-Sach's disease

  1972cited by this paper

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  2015cites this paper
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