Publications by authors named "Manuela Tolve"

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Developmental and Epileptic Encephalopathy as a Novel Clinical Hallmark of SCA21.
Mario Mastrangelo, Giacomina Ricciardi, Carlo Greco, Rossella Bove, Luca Pollini, Manuela Tolve

Neuropediatrics· December 2025

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GAMT Deficiency: Clinical Presentation, Treatment, Diagnosis, Animal Models, Preclinical and Clinical Developments.
Sara Biagiotti, Elena Perla, Serafina Manila Guzzo, Manuela Tolve, Francesca Nardecchia

Int J Mol Sci· November 2025

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Milder Form of Cobalamin C Disease May Be Missed by Newborn Screening: The Importance of Methylmalonic Acid Assessment.
Francesca Nardecchia, Agnese De Giorgi, Silvia Santagata, Teresa Giovanniello, Manuela Tolve

Int J Neonatal Screen· September 2025

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The diagnostic and prognostic role of cerebrospinal fluid biomarkers in glucose transporter 1 deficiency: a systematic review.
Mario Mastrangelo, Filippo Manti, Giacomina Ricciardi, Elisa Maria Colacino Cinnante, Noemi Cameli, Manuela Tolve

Eur J Pediatr· September 2024

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Autosomal Recessive Guanosine Triphosphate Cyclohydrolase I Deficiency: Redefining the Phenotypic Spectrum and Outcomes.
Maria Novelli, Manuela Tolve, Vicente Quiroz, Claudia Carducci, Rossella Bove

Mov Disord Clin Pract· September 2024

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Epilepsy phenotypes across the different age-ranges in IQSEC2-related encephalopathy: An Italian multicentre retrospective cohort study.
Mario Mastrangelo, Carlo Greco, Manuela Tolve, Emanuele Bartolini, Angelo Russo

Seizure· July 2024

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The burden of epilepsy on long-term outcome of genetic developmental and epileptic encephalopathies: A single tertiary center longitudinal retrospective cohort study.
Mario Mastrangelo, Filippo Manti, Giacomina Ricciardi, Rossella Bove, Carlo Greco, Manuela Tolve

Epilepsy Behav· March 2024

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Phenotypes and Genotypes of Inherited Disorders of Biogenic Amine Neurotransmitter Metabolism.
Mario Mastrangelo, Manuela Tolve, Cristiana Artiola, Rossella Bove, Claudia Carducci

Genes (Basel)· January 2023

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Long-term neurological and psychiatric outcomes in patients with aromatic l-amino acid decarboxylase deficiency.
Filippo Manti, Mario Mastrangelo, Roberta Battini, Claudia Carducci, Carlotta Spagnoli, Manuela Tolve

Parkinsonism Relat Disord· October 2022

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Clinical variability at the mild end of BRAT1-related spectrum: Evidence from two families with genotype-phenotype discordance.
Sara Nuovo, Valentina Baglioni, Roberta De Mori, Silvia Tardivo, Caterina Caputi, Manuela Tolve

Hum Mutat· January 2022

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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.
Emanuele Di Carlo, Silvia Santagata, Luca Sauro, Manuela Tolve, Filippo Manti

J Chromatogr B Analyt Technol Biomed Life Sci· November 2021

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Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene.
Laura Marti-Sanchez, Heidy Baide-Mairena, Anna Marcé-Grau, Roser Pons, Anastasia Skouma, Manuela Tolve

J Inherit Metab Dis· March 2021

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Molecular genetics of phenylketonuria and tetrahydrobiopterin deficiency in Jordan.
Carla Carducci, Wajdi Amayreh, Haneen Ababneh, Amjad Mahasneh, Buthaina Al Rababah, Manuela Tolve

JIMD Rep· September 2020

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-Related Neurological Disorders: From Old to Emerging Clinical Phenotypes.
Luca Pollini, Serena Galosi, Manuela Tolve, Caterina Caputi, Carla Carducci

Int J Mol Sci· August 2020

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Multiple sclerosis and intracellular cobalamin defect (/) comorbidity in a young male.
Luca Pollini, Manuela Tolve, Francesca Nardecchia, Serena Galosi, Claudia Carducci

Mol Genet Metab Rep· March 2020

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A novel compound heterozygous genotype associated with aromatic amino acid decarboxylase deficiency: Clinical aspects and biochemical studies.
Riccardo Montioli, Roberta Battini, Alessandro Paiardini, Manuela Tolve, Mariarita Bertoldi

Mol Genet Metab· June 2019

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Corrigendum to "Pyridoxine-5'-phosphate oxidase (Pnpo) deficiency: Clinical and biochemical alterations associated with the C.347g>A (P.·Arg116gln) mutation" [Mol. Genet. Metab. 122/1-2 (2017) 135-142].
Martino L di Salvo, Mario Mastrangelo, Isabel Nogués, Manuela Tolve, Alessandro Paiardini

Mol Genet Metab· December 2018

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PRICKLE1-related early onset epileptic encephalopathy.
Mario Mastrangelo, Manuela Tolve, Martina Martinelli, Sofia P Di Noia, Elena Parrini

Am J Med Genet A· December 2018

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Molecular Analysis of PKU-Associated PAH Mutations: A Fast and Simple Genotyping Test.
Manuela Tolve, Cristiana Artiola, Amelia Pasquali, Teresa Giovanniello, Sirio D'Amici

Methods Protoc· August 2018

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Biochemical data from the characterization of a new pathogenic mutation of human pyridoxine-5'-phosphate oxidase (PNPO).
Martino L di Salvo, Mario Mastrangelo, Isabel Nogués, Manuela Tolve, Alessandro Paiardini

Data Brief· December 2017

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Pyridoxine-5'-phosphate oxidase (Pnpo) deficiency: Clinical and biochemical alterations associated with the C.347g>A (P.·Arg116gln) mutation.
Martino L di Salvo, Mario Mastrangelo, Isabel Nogués, Manuela Tolve, Alessandro Paiardini

Mol Genet Metab· September 2017

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Genetic Paradoxes in an Italian Family with Multiexon Duplication.
Simona Petrucci, Gina Ferrazzano, Monia Ginevrino, Manuela Tolve, Isabella Berardelli

Mov Disord Clin Pract· September 2017

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Urine sepiapterin excretion as a new diagnostic marker for sepiapterin reductase deficiency.
Claudia Carducci, Silvia Santagata, Jennifer Friedman, Elisabetta Pasquini, Carla Carducci, Manuela Tolve

Mol Genet Metab· August 2015

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Very early pattern of movement disorders in sepiapterin reductase deficiency.
Vincenzo Leuzzi, Claudia Carducci, Manuela Tolve, Maria Teresa Giannini, Antonio Angeloni

Neurology· December 2013

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A new case of malonic aciduria with a presymptomatic diagnosis and an early treatment.
Andrea Celato, Chiara Mitola, Manuela Tolve, Maria Teresa Giannini, Sabrina De Leo

Brain Dev· August 2013

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