Giuseppe D. Mangano

Enna, Italy

Last Updated: 09/26/2026

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Found 38 publications

PPP1R21-Related neurodevelopmental disorder: Phenotypic delineation, variant spectrum, and pathophysiological mechanisms.

PPP1R21-Related neurodevelopmental disorder: Phenotypic delineation, variant spectrum, and pathophysiological mechanisms.

Journal: Neurogenetics

Published: March 26, 2026

Expanding clinical variability in FBXW7-related neurodevelopmental disorder: a multicenter case series.

Expanding clinical variability in FBXW7-related neurodevelopmental disorder: a multicenter case series.

Journal: Journal of neurodevelopmental disorders

Published: February 02, 2026

Further characterization of the BRSK2-associated neurodevelopmental disorder.

Further characterization of the BRSK2-associated neurodevelopmental disorder.

Journal: European journal of human genetics : EJHG

Published: January 13, 2026

Self-limited Neonatal Epilepsy associated with global developmental delay and high-threshold sensory profile: A novel KCNQ3 de novo variant unusually located in the voltage sensor S4 segment of the Kv7.3 channel subunit.

Self-limited Neonatal Epilepsy associated with global developmental delay and high-threshold sensory profile: A novel KCNQ3 de novo variant unusually located in the voltage sensor S4 segment of the Kv7.3 channel subunit.

Journal: Seizure

Published: January 09, 2026

FBXW7-Related Neurodevelopmental Disorder: Clinical Spectrum, Molecular Mechanisms, and Tumor Predisposition.

FBXW7-Related Neurodevelopmental Disorder: Clinical Spectrum, Molecular Mechanisms, and Tumor Predisposition.

Journal: Human mutation

Published: November 06, 2025

Exploring the Role of Heat Shock Proteins in Neuroimmune Modulation in Rheumatoid Arthritis: Insights from a Rat Model.

Exploring the Role of Heat Shock Proteins in Neuroimmune Modulation in Rheumatoid Arthritis: Insights from a Rat Model.

Journal: International journal of molecular sciences

Published: September 07, 2025

A mutational hotspot in TUBB2A associated with impaired heterodimer formation and severe brain developmental disorders.

A mutational hotspot in TUBB2A associated with impaired heterodimer formation and severe brain developmental disorders.

Journal: Frontiers in cellular neuroscience

Published: July 13, 2025

A novel de novo AP2M1 variant in a patient with attention-deficit/hyperactivity disorder, oppositional defiant disorder, and unexpected hemiplegic migraine.

A novel de novo AP2M1 variant in a patient with attention-deficit/hyperactivity disorder, oppositional defiant disorder, and unexpected hemiplegic migraine.

Journal: Headache

Published: April 17, 2025

NUP85 as a Neurodevelopmental Gene: From Podocyte to Neuron.

NUP85 as a Neurodevelopmental Gene: From Podocyte to Neuron.

Journal: Genes

Published: October 10, 2023

The Cardiofaciocutaneous Syndrome: From Genetics to Prognostic-Therapeutic Implications.

The Cardiofaciocutaneous Syndrome: From Genetics to Prognostic-Therapeutic Implications.

Journal: Genes

Published: October 09, 2023

Familial hemiplegic migraine in pediatric patients: A genetic, clinical, and follow-up study.

Familial hemiplegic migraine in pediatric patients: A genetic, clinical, and follow-up study.

Journal: Headache

Published: December 06, 2022

ATP6V1B2-related disorders featuring Lennox-Gastaut-syndrome: A case-based overview.

ATP6V1B2-related disorders featuring Lennox-Gastaut-syndrome: A case-based overview.

Journal: Brain & development

Published: August 08, 2022

Showing 1-12 of 38

Last Updated: 09/26/2026