Clara Xiol
Barcelona, CT, Spain
Last Updated: 09/26/2026
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Found 19 publications
Genotype-Driven MRI Re-evaluation Reveals Subtle PAFAH1B1-Related Lissencephaly.
Journal: Journal of child neurology
Published: August 27, 2026
Identification of autosomal and sex chromosome aneuploidies using next generation sequencing.
Journal: Bioinformatics (Oxford, England)
Published: November 21, 2025
A Further Case Supporting CCNK as a Neurodevelopmental Disease Gene.
Journal: Clinical genetics
Published: September 14, 2025
Diagnostic value of genetic testing, with focus on CACNA1A, in children with episodic neurologic disorders: a single-centre retrospective study.
Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Published: August 29, 2025
Multi-omics in MECP2 duplication syndrome patients and carriers.
Journal: The European journal of neuroscience
Published: January 16, 2024
Mitochondrial modulation with leriglitazone as a potential treatment for Rett syndrome.
Journal: Journal of translational medicine
Published: July 13, 2023
Experimental and Bioinformatic Insights into the Effects of Epileptogenic Variants on the Function and Trafficking of the GABA Transporter GAT-1.
Journal: International journal of molecular sciences
Published: November 29, 2022
Global Impairment of Immediate-Early Genes Expression in Rett Syndrome Models and Patients Linked to Myelination Defects.
Journal: International journal of molecular sciences
Published: August 21, 2022
Analysis of the circRNA and T-UCR populations identifies convergent pathways in mouse and human models of Rett syndrome.
Journal: Molecular therapy. Nucleic acids
Published: November 05, 2021
MECP2-Related Disorders in Males.
Journal: International journal of molecular sciences
Published: July 30, 2021
Last Updated: 09/26/2026