Concetta Federico

Via Androne 81, 95124 Catania CT
Catania, 95124, Italy

Last Updated: 09/26/2026

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Found 98 publications

RFX3 Pathogenic Variants as a Rare Cause of Infantile Epileptic Spasms Syndrome.

RFX3 Pathogenic Variants as a Rare Cause of Infantile Epileptic Spasms Syndrome.

Journal: International journal of molecular sciences

Published: July 06, 2026

Deciphering the Role of LNX2 as a Potential Contributor to Neurodevelopmental Disorders.

Deciphering the Role of LNX2 as a Potential Contributor to Neurodevelopmental Disorders.

Journal: Genes

Published: June 01, 2026

Beyond STRs: Integrative Forensic Genomics from MPS to Genetic Genealogy and AI-Based Prediction.

Beyond STRs: Integrative Forensic Genomics from MPS to Genetic Genealogy and AI-Based Prediction.

Journal: Genes

Published: April 23, 2026

A De Novo USP24 Variant as a Candidate Driver in a Neurodevelopmental Disorder: Insights from Trio-Based Whole-Exome Sequencing.

A De Novo USP24 Variant as a Candidate Driver in a Neurodevelopmental Disorder: Insights from Trio-Based Whole-Exome Sequencing.

Journal: International journal of molecular sciences

Published: April 07, 2026

A de novo Loss-of-function Variant in RAPGEF6 Supports its Role in Neuropsychiatric Disorders.

A de novo Loss-of-function Variant in RAPGEF6 Supports its Role in Neuropsychiatric Disorders.

Journal: Journal of molecular neuroscience : MN

Published: March 11, 2026

Unraveling the Genetic and Molecular Architecture of Autism Spectrum Disorder: Implications for Clinical Genetics and Genomic Diagnostics.

Unraveling the Genetic and Molecular Architecture of Autism Spectrum Disorder: Implications for Clinical Genetics and Genomic Diagnostics.

Journal: International journal of molecular sciences

Published: March 02, 2026

Potential Link Between a Disruptive CAPN6 Variant and Neurodevelopmental Disorders.

Potential Link Between a Disruptive CAPN6 Variant and Neurodevelopmental Disorders.

Journal: International journal of molecular sciences

Published: December 22, 2025

Moderate Exercise Stimulates PACAP-Mediated Neurogenesis in Rat Dentate Gyrus and Cerebellar Cortex.

Moderate Exercise Stimulates PACAP-Mediated Neurogenesis in Rat Dentate Gyrus and Cerebellar Cortex.

Journal: Journal of functional morphology and kinesiology

Published: December 05, 2025

Loss of AT8 Nuclear Tau as a Marker of Neuronal Ageing and Alzheimer's Disease Progression.

Loss of AT8 Nuclear Tau as a Marker of Neuronal Ageing and Alzheimer's Disease Progression.

Journal: Biomedicines

Published: September 14, 2025

NGS Approaches in Clinical Diagnostics: From Workflow to Disease-Specific Applications.

NGS Approaches in Clinical Diagnostics: From Workflow to Disease-Specific Applications.

Journal: International journal of molecular sciences

Published: September 05, 2025

Unravelling the role of Neurotrimin (NTM), a member of the IgLON family, in mild intellectual disability and anxiety-like behaviors.

Unravelling the role of Neurotrimin (NTM), a member of the IgLON family, in mild intellectual disability and anxiety-like behaviors.

Journal: Gene

Published: July 19, 2025

ZNF496 as Candidate Gene for Neurodevelopmental Disorders: Identification of a Pathogenic De Novo Frameshift Variant.

ZNF496 as Candidate Gene for Neurodevelopmental Disorders: Identification of a Pathogenic De Novo Frameshift Variant.

Journal: International journal of molecular sciences

Published: July 11, 2025

Showing 1-12 of 98

Last Updated: 09/26/2026