Literature DB >> 7614087

The genetic basis of ataxia.

R N Rosenberg1.   

Abstract

The inherited ataxias can now be classified on the basis of genotype rather than phenotype. Clinical expression of the various disorders overlap one another, making a diagnostic classification based on phenotype inaccurate in many instances. A genomic classification as outlined here has provided order and clarity in this group of disorders previously classified on the basis of clinical features. It is expected that in the near future the abnormal gene products for these ataxias, the ataxins, will be identified and provide molecular insights for effective therapies.

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Year:  1995        PMID: 7614087

Source DB:  PubMed          Journal:  Clin Neurosci        ISSN: 1065-6766


  2 in total

1.  Enhanced neuronal excitability in the absence of neurodegeneration induces cerebellar ataxia.

Authors:  Vikram G Shakkottai; Chin-hua Chou; Salvatore Oddo; Claudia A Sailer; Hans-Günther Knaus; George A Gutman; Michael E Barish; Frank M LaFerla; K George Chandy
Journal:  J Clin Invest       Date:  2004-02       Impact factor: 14.808

2.  Cerebellar ataxia, hypogonadism and chorioretinopathy: molecular analysis of an Italian family.

Authors:  R Rizzi; V Carelli; L Monari; M Mochi; R Liguori; M Sensi; S Cocozza; A Filla; P Montagna
Journal:  Ital J Neurol Sci       Date:  1998-02
  2 in total

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