Clara Xiol

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

Silvia M. Vidal, Núria Brandi, Paola Pacheco et al. · European Journal of Paediatric Neurology · 2019 · 31 citations · Full text

Mendelian Disorder, Disease Mechanism, Genetic Disorder +13

Molecular characterization of Spanish patients with <i>MECP2</i> duplication syndrome

Ainhoa Pascual‐Alonso, Laura Campello Blasco, Silvia M. Vidal et al. · Clinical Genetics · 2020 · 26 citations

Neurodevelopmental Disorders, Mendelian Disorder, Genetic Disorder +15

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

Clara Xiol, Silvia M. Vidal, Ainhoa Pascual‐Alonso et al. · Scientific Reports · 2019 · 24 citations · Full text

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

Alfonso Oyarzábal, Clara Xiol, A Castells et al. · International Journal of Molecular Sciences · 2020 · 14 citations · Full text

Brain Development, Rett Syndrome, Genetics +31

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

Edilene Siqueira Soares, Aida Obiols-Guardia, Olga C. Jorge-Torres et al. · Molecular Therapy — Nucleic Acids · 2021 · 12 citations · Full text