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Molecular Genetics and Metabolism|September 6, 2023
Metabolic control and clinical outcome in adolescents with phenylketonuriaAgnese De Giorgi, Francesca Nardecchia, Cristina Romani, et al.Molecular Genetics and Metabolism|May 7, 2023
Neuroimaging in early-treated phenylketonuria patients and clinical outcome: A systematic reviewAgnese De Giorgi, Francesca Nardecchia, Filippo Manti, et al.Journal of Pediatric Genetics|February 21, 2022
Neurodevelopmental Impairment As the Main Phenotypic Hallmark Associated with the Translocation t(7;10)(7p22.3;q26.11)Mario Mastrangelo, Barbara Torres, Gloria De Vita, et al.International Journal of Neonatal Screening|September 22, 2025
Milder Form of Cobalamin C Disease May Be Missed by Newborn Screening: The Importance of Methylmalonic Acid AssessmentFrancesca Nardecchia, Agnese De Giorgi, Silvia Santagata, et al.Annals of Clinical and Translational Neurology|December 7, 2020
Missense PDSS1 mutations in CoenzymeQ10 synthesis cause optic atrophy and sensorineural deafnessFrancesca Nardecchia, Agnese De Giorgi, Flavia Palombo, et al.Cerebellum (London, England)|September 17, 2024
CACNA1G Causes Dominantly Inherited Myoclonus-Ataxia with Intellectual Disability: A Case ReportMartina De Riggi, Agnese De Giorgi, Luca Pollini, et al.Human Mutation|May 15, 2025
Deletion Testing of the DEGS1 Gene Should Be Part of the Diagnostic Pipeline for Hypomyelinating Leukodystrophy (HLD18)Mariateresa Zanobio, Francesca Nardecchia, Gerarda Cappuccio, et al.Pageof 1