Ana Joana Duarte

Validation of the Spanish, Portuguese and French versions of the Lupus Damage Index questionnaire: data from North and South America, Spain and Portugal

Bernardo A. Pons‐Estel, Jorge Sánchez‐Guerrero, Juanita Romero‐Díaz et al. · Lupus · 2009 · 23 citations · Full text

Self-administered Questionnaire, Ldiq Versions, South America +16

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

Ana Joana Duarte, Diogo Ribeiro, Luciana Moreira et al. · International Journal of Molecular Sciences · 2018 · 17 citations · Full text

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

Liliana Matos, Ana Joana Duarte, Diogo Ribeiro et al. · Genes · 2018 · 16 citations · Full text

Unverricht–Lundborg disease: Homozygosity for a new splicing mutation in the cystatin B gene

Eugénia Pinto, Joel Freitas, Ana Joana Duarte et al. · Epilepsy Research · 2011 · 13 citations

Genetic Disorder, Medicine, Genetics +10

Characterization of a rare Unverricht–Lundborg disease mutation

Ana Joana Duarte, Diogo Ribeiro, João Chaves et al. · Molecular Genetics and Metabolism Reports · 2015 · 10 citations · Full text