Clinical data and characterization of the liver conditional mouse model exclude neoplasia as a non-neurological manifestation associated with Friedreich's ataxia

• Main Authors: Alain Martelli (Author), Lisa S. Friedman (Author), Laurence Reutenauer (Author), Nadia Messaddeq (Author), Susan L. Perlman (Author), David R. Lynch (Author), Kathrin Fedosov (Author), Jörg B. Schulz (Author), Massimo Pandolfo (Author), Hélène Puccio (Author)
• Formato: Livro
• Publicado em: The Company of Biologists, 2012-11-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: Connect to this object online.

SUMMARY Friedreich's ataxia (FRDA) is the most common hereditary ataxia in the caucasian population and is characterized by a mixed spinocerebellar and sensory ataxia, hypertrophic cardiomyopathy and increased incidence of diabetes. FRDA is caused by impaired expression of the FXN gene coding f...