Vincenzo D. Salpietro

London, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 215 publications

Turbocharging synaptic transmission: 12 SNAREpins are required for rapid release of reconstituted synaptic vesicles.

Turbocharging synaptic transmission: 12 SNAREpins are required for rapid release of reconstituted synaptic vesicles.

Journal: Science advances

Published: July 01, 2026

The recurrent SACS gene p.Arg272His hotspot expands the neurodevelopmental and cognitive spectrum of ARSACS.

The recurrent SACS gene p.Arg272His hotspot expands the neurodevelopmental and cognitive spectrum of ARSACS.

Journal: Neurogenetics

Published: May 15, 2026

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

Equivalent gain-of-function variants in KCNK3 and KCNK9 and their contribution to distinct TASK K2P channelopathies.

Equivalent gain-of-function variants in KCNK3 and KCNK9 and their contribution to distinct TASK K2P channelopathies.

Journal: The Journal of general physiology

Published: February 27, 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

Soticlestat for drug-resistant epilepsy: Current evidence and clinical perspectives.

Soticlestat for drug-resistant epilepsy: Current evidence and clinical perspectives.

Journal: Seizure

Published: January 30, 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

Selective Plasmatic Amino Acid Alterations as a Potential Biomarker for Pathological Stratification in Autism Spectrum Disorders.

Selective Plasmatic Amino Acid Alterations as a Potential Biomarker for Pathological Stratification in Autism Spectrum Disorders.

Journal: Biomedicines

Published: November 13, 2025

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

Globalizing newborn screening: bridging gaps in genetic diagnosis and treatment.

Globalizing newborn screening: bridging gaps in genetic diagnosis and treatment.

Journal: Frontiers in pediatrics

Published: July 28, 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

Clinical and Molecular Heterogeneity Underlying Monogenic Causes of Pediatric Diabetes Associated to Brain Developmental Disorders.

Clinical and Molecular Heterogeneity Underlying Monogenic Causes of Pediatric Diabetes Associated to Brain Developmental Disorders.

Journal: Clinical genetics

Published: June 07, 2025

Showing 1-12 of 215

Last Updated: 09/26/2026