B. Bartholomé

A splice mutation in the GTP cyclohydrolase I gene causes dopa-responsive dystonia by exon skipping

N. Blau, L. Bonafė, M. Skrygan, 2001, Journal of Inherited Metabolic Disease.

Levodopa-responsive dystonia. GTP cyclohydrolase I or parkin mutations?

Y. Agid, A. Bonnet, M. Vidailhet, 2000, Brain : a journal of neurology.