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Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|April 26, 2021
The impact of symptoms on daily life as perceived by patients with Charcot-Marie-Tooth type 1A diseaseStefano Tozza, Dario Bruzzese, Daniele Severi, et al.The Journal of General Physiology|March 6, 2024
A novel, patient-derived RyR1 mutation impairs muscle function and calcium homeostasis in miceSofia Benucci, Alexis Ruiz, Martina Franchini, et al.Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|September 2, 2024
Charcot-Marie-Tooth type 2CC misdiagnosed as Chronic Inflammatory Demyelinating PolyradiculoneuropathyIsabella Di Sarno, Stefano Tozza, Filippo Maria Santorelli, et al.Annals of Clinical and Translational Neurology|October 21, 2020
Multimodal evaluation of an Italian family with a hereditary spastic paraplegia and POLR3A mutationsLucia Ruggiero, Aniello Iovino, Raffaele Dubbioso, et al.Frontiers in Neurology|September 15, 2018
Reversible Valproate-Induced Subacute Encephalopathy Associated With aGiovanna De Michele, Pierpaolo Sorrentino, Claudia Nesti, et al.Journal of Neurophysiology|December 22, 2021
BDNF polymorphism and interhemispheric balance of motor cortex excitability: a preliminary studyRaffaele Dubbioso, Giovanni Pellegrino, Federico Ranieri, et al.Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|October 23, 2023
Heterogenous electrophysiological features in early stage of hereditary transthyretin amyloidosis neuropathyStefano Tozza, Giovanni Palumbo, Daniele Severi, et al.Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|November 28, 2019
Different cortical excitability profiles in hereditary brain iron and copper accumulationRaffaele Dubbioso, Lucia Ruggiero, Marcello Esposito, et al.Antioxidants (Basel, Switzerland)|December 30, 2025
Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency (MADD): Clinical Features, Diagnostic Challenges, and the Role of Oxidative Stress in PathophysiologyDario Zoppi, Anna Russo, Francesca Vallefuoco, et al.Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|June 12, 2025
Describing phenotypes in FSHD: an update of the comprehensive clinical evaluation formGiulia Ricci, Francesca Torri, Lucia Ruggiero, et al.Pageof 8