The role of the SMN gene in proximal spinal muscular atrophy.

No abstract is available for this paper.

• Publication year

  1998

• Venue

  Human Molecular Genetics

• Publication date

  1998-09-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1093/HMG/7.10.1531PMID 9735373
• 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.

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• Ribonucleoprotein assembly: clues from spinal muscular atrophy.

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• Sequence of a 131-kb region of 5q13.1 containing the spinal muscular atrophy candidate genes SMN and NAIP.

  1998cited by this paper
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  1997cited by this paper
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  1997cited by this paper
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  1997cited by this paper
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  1997cited by this paper
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• cDNA isolation, expression, and chromosomal localization of the mouse survival motor neuron gene (Smn).

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• Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number.

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• Myotonic dystrophy, knockouts, warts

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• Genetic homogeneity between childhood-onset and adult-onset autosomal recessive spinal muscular atrophy.

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• Allelic association and deletions in autosomal recessive proximal spinal muscular atrophy: association of marker genotype with disease severity and candidate cDNAs.

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• Identification and characterization of a spinal muscular atrophy-determining gene

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• A frame–shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients

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• Molecular basis of spinal muscular atrophy in Chinese.

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• The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy.

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• Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: evidence of homozygous deletions of the SMN gene in unaffected individuals.

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• PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy.

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• Deletions of the survival motor neuron gene in unaffected siblings of patients with spinal muscular atrophy.

  1995cited by this paper
• SMN gene deletion in variant of infantile spinal muscular atrophy.

  1995cited by this paper
• SMN gene deletions in adult-onset spinal muscular atrophy.

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• De novo and inherited deletions of the 5q13 region in spinal muscular atrophies.

  1994cited by this paper
• p44 and p34 subunits of the BTF2/TFIIH transcription factor have homologies with SSL1, a yeast protein involved in DNA repair.

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• The two-hybrid system: an assay for protein-protein interactions.

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• Construction of a yeast artificial chromosome contig spanning the spinal muscular atrophy disease gene region.

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• A contig of non-chimaeric YACs containing the spinal muscular atrophy gene in 5q13.

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• Assembly of a processive messenger RNA polyadenylation complex.

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