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Class of 1997
Name
Santos, Cláudia
E-Mail
claudia.santos@unisla.pt
1st Degree
Biology
University (1st Degree)
Universidade do Porto
About the PhD
Field of Research
Neurogenetics
Thesis Title
Molecular Genetics of Machado-Joseph disease: a model for study in C. elegans
Supervisor(s)
Prof. Doutora Patrícia Maciel
Co-Supervisor(s)
Professor Doutor Jorge Sequeiros
University
ICBAS
Laboratory
UnIGENe/IBMC
City
Porto
Country
Portugal
Date of Thesis Defence
2005-09-21
After the PhD (Current Situation)
Position
Professor
Institution
ISLA
City
Porto
Country
Portugal

Publications
Santos C., Wanderley H.Y.C., Vedolin L., Pena S.D.J. Jardim L., Sequeiros J. 2008. Huntington disease-like-2 (HDL2): The first patient with apparent European ancestry. Clinical Genetics 73 (5):480}6485
Rodrigues A.J., Coppola G., Santos C., Costa M.C., Ailion M., Sequeiros J., Geschwind D.H., and Maciel P. 2007. Functional genomics and biochemical characterization of the C. elegans orthologue of the Machado-Joseph disease protein ataxin-3. FASEBJ. 21(4):1126-36.
Maciel P., Costa M.C., Ferro A., Rousseau M., Santos C., Gaspar C., Barros J., Rouleau G., Coutinho P., Sequeiros J. 2001. Improvement in the molecular diagnosis of Machado-Joseph disease. Archives of Neurology 58 (11):1821-1827
Silveira I., Alonso I., Guimarães L., Mendonça P., Santos C., Maciel P., Costa M., Barbot C., Barros J. Coutinho P., Sequeiros J. 2000. High germinal instability of the (CTG)n repeat at the SCA8 locus with expansions of normal alleles. American Journal of Human Genetics 66: 830-840
INSTITUTIONS INVOLVED
Program financially supported by
the National Foundation for
Science and Technology