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Journal of Neurology|March 11, 2021
New pathogenic variants in COQ4 cause ataxia and neurodevelopmental disorder without detectable CoQ10 deficiency in muscle or skin fibroblastsSerena Mero, Leonardo Salviati, Vincenzo Leuzzi, et al.
Neurology. Genetics|December 26, 2025
DNAJC12 Disease: Clinical Spectrum and Long-Term OutcomesFilippo Manti, Giacomina Ricciardi, Francesca Nardecchia, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|April 30, 2024
Biallelic Variants of MRPS36 Cause a New Form of Leigh SyndromeSerena Galosi, Cecilia Mancini, Anna Commone, et al.
Molecular Genetics and Metabolism|July 12, 2020
Long-term clinical outcome of 6-pyruvoyl-tetrahydropterin synthase-deficient patientsFilippo Manti, Francesca Nardecchia, Giuseppe Banderali, et al.
Frontiers in Molecular Neuroscience|June 16, 2023
The recurrent pathogenic Pro890Leu substitution in CLTC causes a generalized defect in synaptic transmission in Caenorhabditis elegansLuca Pannone, Valentina Muto, Francesca Nardecchia, 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.
Nutrients|November 17, 2019
Untreated PKU Patients without Intellectual Disability: What Do They Teach Us?Danique van Vliet, Annemiek M J van Wegberg, Kirsten Ahring, et al.
Orphanet Journal of Rare Diseases|August 31, 2018
Can untreated PKU patients escape from intellectual disability? A systematic reviewDanique van Vliet, Annemiek M J van Wegberg, Kirsten Ahring, et al.
Genetics in Medicine Open|April 22, 2026
Telethon Undiagnosed Disease Program: Structured approach to solving rare childhood-onset genetic diseasesAnnalaura Torella, Manuela Morleo, Carmine Spampanato, et al.
International Journal of Neonatal Screening|August 23, 2022
Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National ExperienceMargherita Ruoppolo, Sabrina Malvagia, Sara Boenzi, et al.
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