Clara Xiol

MECP2-Related Disorders in Males

J. Armstrong, A. Martínez-Monseny, C. Xiol, 2021, International journal of molecular sciences.

Technological Improvements in the Genetic Diagnosis of Rett Syndrome Spectrum Disorders

J. Armstrong, C. Xiol, A. Oyarzabal, 2021, International journal of molecular sciences.

Experimental and Bioinformatic Insights into the Effects of Epileptogenic Variants on the Function and Trafficking of the GABA Transporter GAT-1

U. Bastolla, J. Armstrong, F. Zafra, 2023, International journal of molecular sciences.

Global Impairment of Immediate-Early Genes Expression in Rett Syndrome Models and Patients Linked to Myelination Defects

M. Esteller, A. Merkel, J. Serra-Musach, 2023, International journal of molecular sciences.

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

F. Setién, M. Esteller, G. Calin, 2021, Molecular therapy. Nucleic acids.

Genetic Landscape of Rett Syndrome Spectrum: Improvements and Challenges

J. Armstrong, M. O'Callaghan, M. Pineda, 2019, International journal of molecular sciences.

Molecular characterization of Spanish patients with MECP2 duplication syndrome

M. Roselló, C. Orellana, M. Tejada, 2020, Clinical genetics.

Comprehensive Analysis of GABAA-A1R Developmental Alterations in Rett Syndrome: Setting the Focus for Therapeutic Targets in the Time Frame of the Disease

J. Armstrong, M. Pineda, Cristina Grau, 2020, International journal of molecular sciences.

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

J. Armstrong, M. Pineda, S. Vidal, 2019, Molecular genetics & genomic medicine.

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

Dmitrii Smirnov, R. Kopajtich, Ainhoa Pascual‐Alonso, 2023, Human Genomics.

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

N. Baena, G. Antiñolo, S. Gökben, 2019, Scientific Reports.

The most recurrent monogenic disorders that overlap with the phenotype of Rett syndrome.

J. Armstrong, M. Pineda, S. Vidal, 2019, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.