Giacomina W. Ricciardi

Rome, 00185, Italy

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 26 publications

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

Early psychiatric manifestations in pediatric autoimmune encephalitis: clinical data from a tertiary center.

Early psychiatric manifestations in pediatric autoimmune encephalitis: clinical data from a tertiary center.

Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

Published: July 13, 2025

Developmental and Epileptic Encephalopathy as a Novel Clinical Hallmark of SCA21.

Developmental and Epileptic Encephalopathy as a Novel Clinical Hallmark of SCA21.

Journal: Neuropediatrics

Published: July 02, 2025

Reanalysis of Undiagnosed Neurodevelopmental Disorder Cases: From RNU4-2 Variants to Clinical Phenotypes.

Reanalysis of Undiagnosed Neurodevelopmental Disorder Cases: From RNU4-2 Variants to Clinical Phenotypes.

Journal: Neurology. Genetics

Published: March 20, 2025

The value of CSF neurotransmitter monitoring in the outcome of gene therapy in aromatic amino acid decarboxylase (AADC) defect.

The value of CSF neurotransmitter monitoring in the outcome of gene therapy in aromatic amino acid decarboxylase (AADC) defect.

Journal: Parkinsonism & related disorders

Published: January 28, 2025

DNAJC12 Disease: Clinical Spectrum and Long-Term Outcomes.

DNAJC12 Disease: Clinical Spectrum and Long-Term Outcomes.

Journal: Neurology. Genetics

Published: January 28, 2025

Brain Folate Depletion as a Cause of Metabolic Stroke in Dihydropteridine Reductase Deficiency: A Suggestive Case Report.

Brain Folate Depletion as a Cause of Metabolic Stroke in Dihydropteridine Reductase Deficiency: A Suggestive Case Report.

Journal: Pediatric neurology

Published: December 20, 2024

CAPRIN1 Pro512Leu Variant Causes Childhood Dementia, Myoclonus-Ataxia, and Sensorimotor Neuropathy.

CAPRIN1 Pro512Leu Variant Causes Childhood Dementia, Myoclonus-Ataxia, and Sensorimotor Neuropathy.

Journal: Movement disorders clinical practice

Published: September 19, 2024

Autosomal Recessive Guanosine Triphosphate Cyclohydrolase I Deficiency: Redefining the Phenotypic Spectrum and Outcomes.

Autosomal Recessive Guanosine Triphosphate Cyclohydrolase I Deficiency: Redefining the Phenotypic Spectrum and Outcomes.

Journal: Movement disorders clinical practice

Published: April 18, 2024

The diagnostic and prognostic role of cerebrospinal fluid biomarkers in glucose transporter 1 deficiency: a systematic review.

The diagnostic and prognostic role of cerebrospinal fluid biomarkers in glucose transporter 1 deficiency: a systematic review.

Journal: European journal of pediatrics

Published: March 05, 2024

The burden of epilepsy on long-term outcome of genetic developmental and epileptic encephalopathies: A single tertiary center longitudinal retrospective cohort study.

The burden of epilepsy on long-term outcome of genetic developmental and epileptic encephalopathies: A single tertiary center longitudinal retrospective cohort study.

Journal: Epilepsy & behavior : E&B

Published: November 28, 2023

Clinical profiles of acute arterial ischemic neonatal stroke.

Clinical profiles of acute arterial ischemic neonatal stroke.

Journal: Minerva pediatrics

Published: May 31, 2023

Showing 1-12 of 26

Last Updated: 09/26/2026