Characterization of a rare Unverricht–Lundborg disease mutation

Por Duarte, Ana Joana, Ribeiro, Diogo, Chaves, João, Amaral, Olga
Publicado no Mol Genet Metab Rep (2015)

In Silico Analysis of Missense Mutations as a First Step in Functional Studies: Examples from Two Sphingolipidoses

Por Duarte, Ana Joana, Ribeiro, Diogo, Moreira, Luciana, Amaral, Olga
Publicado no Int J Mol Sci (2018)

Efficient IDUA Gene Mutation Detection with Combined Use of dHPLC and Dried Blood Samples

Por Ribeiro, Diogo, Cardoso, Ana, Duarte, Ana Joana, Vieira, Luis, Amaral, Olga
Publicado no ISRN Mol Biol (2013)

Correction of a Splicing Mutation Affecting an Unverricht-Lundborg Disease Patient by Antisense Therapy

Por Matos, Liliana, Duarte, Ana Joana, Ribeiro, Diogo, Chaves, João, Amaral, Olga, Alves, Sandra
Publicado no Genes (Basel) (2018)