Vincenzo Leuzzi

Rome, Italy

Last Updated: 09/26/2026

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Found 218 publications

Gene supplementation therapy restores motor deficits in Gnao1[C215Y] mice and proves broad efficacy in C. elegans model.

Gene supplementation therapy restores motor deficits in Gnao1[C215Y] mice and proves broad efficacy in C. elegans model.

Journal: Acta neuropathologica communications
Published: May 06, 2026

Pharmacological Treatment of Cerebellar Ataxia in Pediatric Ataxia-Telangiectasia: A Systematic Review.

Pharmacological Treatment of Cerebellar Ataxia in Pediatric Ataxia-Telangiectasia: A Systematic Review.

Journal: European journal of neurology
Published: April 08, 2026

Dissecting GPCR Contributions to Gαo-Dependent Motor Dysfunction in GNAO1-Related Disorders Using Caenorhabditis elegans.

Dissecting GPCR Contributions to Gαo-Dependent Motor Dysfunction in GNAO1-Related Disorders Using Caenorhabditis elegans.

Journal: Biomedicines
Published: February 13, 2026

Follow-up and outcome of patients with primary BH4 deficiencies.

Follow-up and outcome of patients with primary BH4 deficiencies.

Journal: Frontiers in neurology
Published: January 21, 2026

Potential impact of early pharmacological treatment on gene therapy outcomes in AADC deficiency.

Potential impact of early pharmacological treatment on gene therapy outcomes in AADC deficiency.

Journal: Parkinsonism & related disorders
Published: December 26, 2025

The First 1000 Days of PKU: A Narrative Review of Maternal PKU and Early Life Management After Positive Newborn Screening.

The First 1000 Days of PKU: A Narrative Review of Maternal PKU and Early Life Management After Positive Newborn Screening.

Journal: Nutrients
Published: December 17, 2025

Phenylketonuria Alters the Prefrontal Cortex Genome-Wide Expression Profile Regardless of the Mouse Genetic Background.

Phenylketonuria Alters the Prefrontal Cortex Genome-Wide Expression Profile Regardless of the Mouse Genetic Background.

Journal: Cells
Published: November 20, 2025

Loss of the conserved switch III region in a G protein leads to severe pediatric encephalopathy.

Loss of the conserved switch III region in a G protein leads to severe pediatric encephalopathy.

Journal: Science signaling
Published: October 28, 2025

GAMT Deficiency: Clinical Presentation, Treatment, Diagnosis, Animal Models, Preclinical and Clinical Developments.

GAMT Deficiency: Clinical Presentation, Treatment, Diagnosis, Animal Models, Preclinical and Clinical Developments.

Journal: International journal of molecular sciences
Published: October 15, 2025

Cerebrospinal Fluid Neurotransmitters, Pterins, Folates and Amino Acids in Paediatric Onset Epilepsies: A Tertiary Centre Retrospective Cohort Study.

Cerebrospinal Fluid Neurotransmitters, Pterins, Folates and Amino Acids in Paediatric Onset Epilepsies: A Tertiary Centre Retrospective Cohort Study.

Journal: Children (Basel, Switzerland)
Published: September 29, 2025

Child Neurology: Ataxia Telangiectasia Presenting With Isolated Chorea and Cutaneous Lesions.

Child Neurology: Ataxia Telangiectasia Presenting With Isolated Chorea and Cutaneous Lesions.

Journal: Neurology
Published: September 11, 2025

Milder Form of Cobalamin C Disease May Be Missed by Newborn Screening: The Importance of Methylmalonic Acid Assessment.

Milder Form of Cobalamin C Disease May Be Missed by Newborn Screening: The Importance of Methylmalonic Acid Assessment.

Journal: International journal of neonatal screening
Published: August 04, 2025
Showing 1-12 of 218

Last Updated: 09/26/2026