MECP2-Related Disorders in Males

por Pascual-Alonso, Ainhoa, Martínez-Monseny, Antonio F., Xiol, Clara, Armstrong, Judith
Publicado 2021

Technological Improvements in the Genetic Diagnosis of Rett Syndrome Spectrum Disorders

por Xiol, Clara, Heredia, Maria, Pascual-Alonso, Ainhoa, Oyarzabal, Alfonso, Armstrong, Judith
Publicado 2021

Identification of molecular signatures and pathways involved in Rett syndrome using a multi-omics approach

por Pascual-Alonso, Ainhoa, Xiol, Clara, Smirnov, Dmitrii, Kopajtich, Robert, Prokisch, Holger, Armstrong, Judith
Publicado 2023

Genetic Landscape of Rett Syndrome Spectrum: Improvements and Challenges

por Vidal, Silvia, Xiol, Clara, Pascual-Alonso, Ainhoa, O’Callaghan, M., Pineda, Mercè, Armstrong, Judith
Publicado 2019

Characterization of large deletions of the MECP2 gene in Rett syndrome patients by gene dosage analysis

por Vidal, Silvia, Pascual‐Alonso, Ainhoa, Rabaza‐Gairí, Marc, Gerotina, Edgar, Brandi, Nuria, Pacheco, Paola, Xiol, Clara, Pineda, Mercè, Armstrong, Judith
Publicado 2019

X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients

por Xiol, Clara, Vidal, Silvia, Pascual-Alonso, Ainhoa, Blasco, Laura, Brandi, Núria, Pacheco, Paola, Gerotina, Edgar, O’Callaghan, Mar, Pineda, Mercè, Armstrong, Judith
Publicado 2019

Unraveling Molecular Pathways Altered in MeCP2-Related Syndromes, in the Search for New Potential Avenues for Therapy

por Castells, Alba-Aina, Balada, Rafel, Tristán-Noguero, Alba, O’Callaghan, Mar, Cortès-Saladelafont, Elisenda, Pascual-Alonso, Ainhoa, Garcia-Cazorla, Àngels, Armstrong, Judith, Alcántara, Soledad
Publicado 2021

Analysis of the circRNA and T-UCR populations identifies convergent pathways in mouse and human models of Rett syndrome

por Siqueira, Edilene, Obiols-Guardia, Aida, Jorge-Torres, Olga C., Oliveira-Mateos, Cristina, Soler, Marta, Ramesh-Kumar, Deepthi, Setién, Fernando, van Rossum, Daniëlle, Pascual-Alonso, Ainhoa, Xiol, Clara, Ivan, Cristina, Shimizu, Masayoshi, Armstrong, Judith, Calin, George A., Pasterkamp, R. Jeroen, Esteller, Manel, Guil, Sonia
Publicado 2021