ABCA4 mutations in Portuguese Stargardt patients: identification of new mutations and their phenotypic analysis

por Maia-Lopes, Susana, Aguirre-Lamban, Jana, Castelo-Branco, Miguel, Riveiro-Alvarez, Rosa, Ayuso, Carmen, Silva, Eduardo Duarte
Publicado 2009

A novel SLC6A8 mutation associated with motor dysfunction in a child exhibiting creatine transporter deficiency

por Cervera-Acedo, Cristina, Lopez, Maria, Aguirre-Lamban, Jana, Santibañez, Paula, Garcia-Oguiza, Alberto, Poch-Olive, Maria Luisa, Dominguez-Garrido, Elena
Publicado 2015

Molecular analysis of ABCA4 and CRB1 genes in a Spanish family segregating both Stargardt disease and autosomal recessive retinitis pigmentosa

por Riveiro-Alvarez, Rosa, Vallespin, Elena, Wilke, Robert, Garcia-Sandoval, Blanca, Cantalapiedra, Diego, Aguirre-Lamban, Jana, Avila-Fernandez, Almudena, Gimenez, Ascension, Trujillo-Tiebas, Maria-Jose, Ayuso, Carmen
Publicado 2008

Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray

por Ávila-Fernández, Almudena, Cantalapiedra, Diego, Aller, Elena, Vallespín, Elena, Aguirre-Lambán, Jana, Blanco-Kelly, Fiona, Corton, M., Riveiro-Álvarez, Rosa, Allikmets, Rando, Trujillo-Tiebas, María José, Millán, José M., Cremers, Frans P.M., Ayuso, Carmen
Publicado 2010