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American Journal of Medical Genetics. Part A|October 23, 2018
PRICKLE1-related early onset epileptic encephalopathyMario Mastrangelo, Manuela Tolve, Martina Martinelli, et al.
International Journal of Molecular Sciences|August 23, 2020
<i>KCND3</i>-Related Neurological Disorders: From Old to Emerging Clinical PhenotypesLuca Pollini, Serena Galosi, Manuela Tolve, et al.
Epilepsy & Behavior : E&B|February 9, 2024
The burden of epilepsy on long-term outcome of genetic developmental and epileptic encephalopathies: A single tertiary center longitudinal retrospective cohort studyMario Mastrangelo, Filippo Manti, Giacomina Ricciardi, et al.
Molecular Genetics and Metabolism|July 1, 2015
Urine sepiapterin excretion as a new diagnostic marker for sepiapterin reductase deficiencyClaudia Carducci, Silvia Santagata, Jennifer Friedman, et al.
Neuropediatrics|July 2, 2025
Developmental and Epileptic Encephalopathy as a Novel Clinical Hallmark of SCA21Mario Mastrangelo, Giacomina Ricciardi, Carlo Greco, et al.
Molecular Genetics and Metabolism Reports|February 27, 2020
Multiple sclerosis and intracellular cobalamin defect (<i>MMACHC</i>/<i>PRDX1</i>) comorbidity in a young maleLuca Pollini, Manuela Tolve, Francesca Nardecchia, et al.
Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences|October 29, 2021
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 deficiencyEmanuele Di Carlo, Silvia Santagata, Luca Sauro, et al.
Molecular Genetics and Metabolism|May 21, 2019
A novel compound heterozygous genotype associated with aromatic amino acid decarboxylase deficiency: Clinical aspects and biochemical studiesRiccardo Montioli, Roberta Battini, Alessandro Paiardini, et al.
Genes|February 25, 2023
Phenotypes and Genotypes of Inherited Disorders of Biogenic Amine Neurotransmitter MetabolismMario Mastrangelo, Manuela Tolve, Cristiana Artiola, et al.
European Journal of Pediatrics|July 2, 2024
The diagnostic and prognostic role of cerebrospinal fluid biomarkers in glucose transporter 1 deficiency: a systematic reviewMario Mastrangelo, Filippo Manti, Giacomina Ricciardi, et al.
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