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HGG Advances|March 11, 2026
ASAH2 deficiency affects sphingolipid homeostasis and neuromotor control, causing a progressive neurological disorderMarcello Scala, Ranjan K Sahu, Mariasavina Severino, 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.
Journal of the Peripheral Nervous System : JPNS|November 11, 2019
Insights into the pathogenesis of ATP1A1-related CMT disease using patient-specific iPSCsFiore Manganelli, Silvia Parisi, Maria Nolano, et al.
Journal of Neurology|March 13, 2022
A compound score to screen patients with hereditary transthyretin amyloidosisStefano Tozza, Daniele Severi, Emanuele Spina, et al.
Orphanet Journal of Rare Diseases|December 5, 2024
Global longitudinal strain in pre-symptomatic patients with mutation for transthyretin amyloidosisGrazia Canciello, Stefano Tozza, Gaetano Todde, et al.
Journal of the Peripheral Nervous System : JPNS|March 8, 2019
A novel family with axonal Charcot-Marie-Tooth disease caused by a mutation in the EGR2 geneStefano Tozza, Stefania Magri, Elena Maria Pennisi, 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.
Schizophrenia (Heidelberg, Germany)|June 19, 2025
In vivo assessment of GABAergic inhibition and glutamate facilitation in treatment-resistant schizophrenia: a TMS study integrating clinical, cognitive, and neurophysiological evaluationsAnnarita Barone, Gianmaria Senerchia, Giuseppe De Simone, 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.
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