Maitane L. Garcia

Bilbao, PV, Spain

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 37 publications

Genotype-phenotype characterization and functional reconstitution of pathogenic β-catenin variants from CTNNB1 syndrome patients.

Genotype-phenotype characterization and functional reconstitution of pathogenic β-catenin variants from CTNNB1 syndrome patients.

Journal: PLoS genetics

Published: April 02, 2025

Novel CTNNB1 Gene Variants in Spanish CTNNB1 Syndrome Patients: Clinical and Psychological Manifestations.

Novel CTNNB1 Gene Variants in Spanish CTNNB1 Syndrome Patients: Clinical and Psychological Manifestations.

Journal: Journal of autism and developmental disorders

Published: April 02, 2025

Cognitive and Adaptive Functioning of CTNNB1 Syndrome Patients: A Comparison With Autism Spectrum Disorder and Cerebral Palsy.

Cognitive and Adaptive Functioning of CTNNB1 Syndrome Patients: A Comparison With Autism Spectrum Disorder and Cerebral Palsy.

Journal: Journal of intellectual disability research : JIDR

Published: December 23, 2024

A Systematic Review of Cognitive and Behavioural Symptoms in CTNNB1 Syndrome.

A Systematic Review of Cognitive and Behavioural Symptoms in CTNNB1 Syndrome.

Journal: Neuropsychology review

Published: June 20, 2024

Impact of chronic pain and depressive symptoms on the quality of life of adults with Chiari Malformation type I: A comparative study.

Impact of chronic pain and depressive symptoms on the quality of life of adults with Chiari Malformation type I: A comparative study.

Journal: Intractable & rare diseases research

Published: February 29, 2024

Comparative study of emotional facial expression recognition among Prader-Willi syndrome subtypes.

Comparative study of emotional facial expression recognition among Prader-Willi syndrome subtypes.

Journal: Journal of intellectual disability research : JIDR

Published: January 16, 2024

A systematic review of social cognition in hereditary ataxia patients: Evidence from neuroimaging studies.

A systematic review of social cognition in hereditary ataxia patients: Evidence from neuroimaging studies.

Journal: Brain research

Published: December 13, 2023

Predictors of overload in parents of children with neuromuscular diseases.

Predictors of overload in parents of children with neuromuscular diseases.

Journal: Frontiers in neurology

Published: December 04, 2023

Relationship of Morphometrics and Symptom Severity in Female Type I Chiari Malformation Patients with Biological Resilience.

Relationship of Morphometrics and Symptom Severity in Female Type I Chiari Malformation Patients with Biological Resilience.

Journal: Cerebellum (London, England)

Published: October 25, 2023

Difficulties in social cognitive functioning among pediatric patients with muscular dystrophies.

Difficulties in social cognitive functioning among pediatric patients with muscular dystrophies.

Journal: Frontiers in psychology

Published: September 18, 2023

Social cognition in DMD and BMD dystrophinopathies: A cross-sectional preliminary study.

Social cognition in DMD and BMD dystrophinopathies: A cross-sectional preliminary study.

Journal: The Clinical neuropsychologist

Published: April 21, 2023

Cognition in Chiari Malformation Type I: an Update of a Systematic Review.

Cognition in Chiari Malformation Type I: an Update of a Systematic Review.

Journal: Neuropsychology review

Published: March 31, 2023

Showing 1-12 of 37

Last Updated: 09/26/2026