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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 
MeSH Review

Paraplegia

 
 
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Disease relevance of Paraplegia

 

Psychiatry related information on Paraplegia

 

High impact information on Paraplegia

 

Chemical compound and disease context of Paraplegia

 

Biological context of Paraplegia

 

Anatomical context of Paraplegia

 

Gene context of Paraplegia

  • Mutations in the L1CAM gene cause a highly variable neurological disease described as X-linked hydrocephalus, MASA syndrome or spastic paraplegia type I. Over one-third of the mutations identified in affected boys are missense, unique to individual families and distributed primarily across the large extracellular domain of the L1 protein [29].
  • Spastic paraplegia type 2 associated with axonal neuropathy and apparent PLP1 position effect [30].
  • Mapping of a new form of pure autosomal recessive spastic paraplegia (SPG28) [31].
  • CONCLUSIONS: This study enables us to estimate the frequency of the SPG3A mutations in France at 39% in families with young-onset autosomal dominant spastic paraplegia after exclusion of SPG4 cases [32].
  • Genomic structure and expression analysis of the spastic paraplegia gene, SPG7 [33].
 

Analytical, diagnostic and therapeutic context of Paraplegia

References

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  33. Genomic structure and expression analysis of the spastic paraplegia gene, SPG7. Settasatian, C., Whitmore, S.A., Crawford, J., Bilton, R.L., Cleton-Jansen, A.M., Sutherland, G.R., Callen, D.F. Hum. Genet. (1999) [Pubmed]
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