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Irish Child Health Database - Peer Reviewed Papers

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Ataxia Telangiectasia/genetics/pathology

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• 1.   Hereditary ataxias and paediatric neurology: new movers and shakers enter the field

  This article discusses how molecular genetics advances have, in the last decade, allowed a better understanding of autosomal dominant and autosomal recessive spinocerebellar ataxias

  

  Abstract:

  Over 25 autosomal dominant and autosomal recessive spinocerebellar ataxias have been isolated over the last decade. The recognition of paediatric ataxia phenotypes and, in addition, other movement disorders including hereditary choreiform and parkinsonian syndromes, has improved our knowledge of these diseases. Advances in molecular genetics has allowed fuller delineation and better more...

  Geography:

  Northern Ireland

  Eur J Paediatr Neurol, Vol: 7 Page: 217-9 2003
  P. J. Morrison

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