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Neuropediatrics|May 24, 2012
Mitochondrial neurogastrointestinal encephalomyopathy: novel pathogenic mutations in thymidine phosphorylase gene in two Italian brothersLaura Libernini, Chiara Lupis, Mario Mastrangelo, et al.
Molecular Pharmaceutics|October 28, 2020
Protein Delivery by Peptide-Based Stealth Liposomes: A Biomolecular Insight into Enzyme Replacement TherapyMelissa Santi, Francesco Finamore, Antonella Cecchettini, et al.
Biochimica Et Biophysica Acta|April 3, 2012
Mitochondrial DNA metabolism in early development of zebrafish (Danio rerio)Lucia Artuso, Alessandro Romano, Tiziano Verri, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|March 1, 2024
Hereditary spastic paraparesis type 18 (SPG18): new ERLIN2 variants in a series of Italian patients, shedding light upon genetic and phenotypic variabilityEttore Cioffi, Valeria Gioiosa, Alessandra Tessa, et al.
Neurogenetics|December 14, 2019
Customized multigene panels in epilepsy: the best things come in small packagesSimona Pellacani, Claudia Dosi, Giulia Valvo, et al.
Genes|May 25, 2024
Non-Specific Epileptic Activity, EEG, and Brain Imaging in Loss of Function Variants in <i>SATB1</i>: A New Case Report and Review of the LiteratureFlavia Privitera, Stefano Pagano, Camilla Meossi, et al.
American Journal of Medical Genetics. Part A|November 6, 2025
A Novel Variant in GLRA1 Associated With Emotional Stimulus-Sensitive Hemichoreic MovementsMartina Giuntini, Lucia Picchi, Gianfranco Cafforio, et al.
European Neurology|February 22, 2023
NEFL-Related Charcot-Marie Tooth Disease due to P440L Mutation in Two Italian Families: Expanding the Phenotype and Defining Modulating FactorsAntonio Petrucci, Ludovico Lispi, Matteo Garibaldi, et al.
Brain Sciences|July 27, 2024
Children and Young Adults with Epilepsy Exhibit an Interictal Autonomic Dysfunction: A Prospective Exploratory StudyCarmen Salluce, Marco Cocciante, Marisa Gazzillo, et al.
Digestive and Liver Disease : Official Journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver|April 26, 2011
Two novel mutations in African and Asian children with progressive familial intrahepatic cholestasis type 3Isabella Giovannoni, Filippo Maria Santorelli, Manila Candusso, et al.
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