Manuela Tolve

Rome, 00161, Italy

Last Updated: 09/26/2026

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Found 28 publications

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

Epilepsy phenotypes of Renu syndrome: Novel insights from a European multicentre retrospective cohort study.

Epilepsy phenotypes of Renu syndrome: Novel insights from a European multicentre retrospective cohort study.

Journal: Seizure

Published: September 15, 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

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

DNAJC12 Disease: Clinical Spectrum and Long-Term Outcomes.

DNAJC12 Disease: Clinical Spectrum and Long-Term Outcomes.

Journal: Neurology. Genetics

Published: January 28, 2025

Epilepsy phenotypes across the different age-ranges in IQSEC2-related encephalopathy: An Italian multicentre retrospective cohort study.

Epilepsy phenotypes across the different age-ranges in IQSEC2-related encephalopathy: An Italian multicentre retrospective cohort study.

Journal: Seizure

Published: April 23, 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

Phenotypes and Genotypes of Inherited Disorders of Biogenic Amine Neurotransmitter Metabolism.

Phenotypes and Genotypes of Inherited Disorders of Biogenic Amine Neurotransmitter Metabolism.

Journal: Genes

Published: December 17, 2022

Long-term neurological and psychiatric outcomes in patients with aromatic l-amino acid decarboxylase deficiency.

Long-term neurological and psychiatric outcomes in patients with aromatic l-amino acid decarboxylase deficiency.

Journal: Parkinsonism & related disorders

Published: April 02, 2022

Simultaneous determination of 5-hydroxytryptophan and 3-O-methyldopa in dried blood spot by UPLC-MS/MS: A useful tool for the diagnosis of L-amino acid decarboxylase deficiency.

Simultaneous determination of 5-hydroxytryptophan and 3-O-methyldopa in dried blood spot by UPLC-MS/MS: A useful tool for the diagnosis of L-amino acid decarboxylase deficiency.

Journal: Journal of chromatography. B, Analytical technologies in the biomedical and life sciences

Published: June 14, 2021

Showing 1-12 of 28

Last Updated: 09/26/2026