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Tassone, Flora / Elizabeth M. Berry-Kravis (Hrsg.). The Fragile X-Associated Tremor Ataxia Syndrome (FXTAS). Springer, 2014.
eng

The Fragile X-Associated Tremor Ataxia Syndrome (FXTAS)

  • Springer
  • 2014
  • Taschenbuch
  • 204 Seiten
  • ISBN 9781489982230
Herausgeber: Flora Tassone / Elizabeth M. Berry-Kravis

In Fragile X-Associated Tremor Ataxia Syndrome (FXTAS), the editors present information on all aspects of FXTAS, including clinical features and current supportive management, radiological, psychological, and pathological findings, genotype-phenotype relationships, animal models and basic molecular mechanisms. Genetic counseling issues are also discussed. The book should serve as a resource for professionals in all fields regarding diagnosis, management, and counseling of patients with FXTAS and their families, as well as presenting the molecular basis for disease that may lead to the identification of new markers to predict disease risk and eventually lead to target treatments.

in Kürze