Cristina Davalillo-Hernando
Barcelona, CT, Spain
Last Updated: 09/26/2026
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Found 9 publications
Case Report: MECP2 and SH3KBP1 variants associated with autism spectrum disorder and immune dysregulation.
Journal: Frontiers in immunology
Published: February 19, 2026
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
Exploring a Circulating miRNA Signature for PMM2-CDG: Initial Insights Toward Diagnosis, Stratification, and Monitoring.
Journal: Journal of inherited metabolic disease
Published: June 07, 2025
Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy Mimics.
Journal: Annals of clinical and translational neurology
Published: May 15, 2025
SDS22 coordinates the assembly of holoenzymes from nascent protein phosphatase-1.
Journal: Nature communications
Published: November 24, 2023
Advanced Optical Microscopy: Unveiling Functional Insights Regarding a Novel PPP2R1A Variant and Its Unreported Phenotype.
Journal: International journal of molecular sciences
Published: July 20, 2023
De novo 4q35.2 duplication containing FAT1 is associated with autism spectrum disorder.
Journal: Clinical genetics
Published: June 03, 2022
PLXNA2 and LRRC40 as candidate genes in autism spectrum disorder.
Journal: Autism research : official journal of the International Society for Autism Research
Published: December 14, 2020
Expanding the phenotype of X-linked SSR4-CDG: Connective tissue implications.
Journal: Human mutation
Published: June 05, 2020
Showing 1-9 of 9
Last Updated: 09/26/2026