Stefano Tozza - Publications

Phosphorylated TDP-43 Pathology in Skin and Muscle Tissue of Patients With Amyotrophic Lateral Sclerosis.

Journal: Neurology

Published: April 30, 2026

Distinct sensory and autonomic involvement in hypermobile Ehlers-Danlos syndrome compared with idiopathic small fiber neuropathy: a multimodal study.

Journal: Scientific reports

Published: April 10, 2026

Patient-Reported Complications and Outcomes of General, Central Neuraxial, and Peripheral Regional Anesthesia in Charcot-Marie-Tooth Disease.

Journal: Neurology. Genetics

Published: March 27, 2026

Co-occurrence of Chiari malformation type 1 and small fiber neuropathy in a family with a novel COL6A5 null variant.

Journal: Clinical autonomic research : official journal of the Clinical Autonomic Research Society

Published: March 19, 2026

Serum peripherin as a disease biomarker in hereditary transthyretin amyloidosis: a multicenter cohort study.

Journal: Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis

Published: March 16, 2026

Efficacy and safety of early intravenous administration of tirofiban after thrombolysis in acute ischemic stroke: a systematic review and meta-analysis of randomized controlled trials.

Journal: Journal of thrombosis and thrombolysis

Published: December 29, 2025

Deep Phenotyping of F64L Mutation in a Multicentric Cohort of Patisiran-Treated Hereditary Transthyretin Amyloidosis Patients (Patisiranitaly).

Journal: European journal of neurology

Published: December 17, 2025

A Quantitative Assessment of Upper Limb Motor Function Across Disease Stages in Hereditary Transthyretin Amyloidosis.

Journal: Journal of the peripheral nervous system : JPNS

Published: November 25, 2025

Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency (MADD): Clinical Features, Diagnostic Challenges, and the Role of Oxidative Stress in Pathophysiology.

Journal: Antioxidants (Basel, Switzerland)

Published: September 30, 2025

Parallel Neurological and Cardiac Progression in Hereditary Transthyretin Amyloidosis: An Integrated Clinical and Imaging Study.

Journal: Diagnostics (Basel, Switzerland)

Published: July 14, 2025

ASAH2 deficiency affects sphingolipid homeostasis and neuromotor control, causing a progressive neurological disorder.

Journal: HGG advances

Published: June 30, 2025

ChatGPT in the diagnosis and management of complex polyneuropathies: comparative analysis with neurologists using real-world cases.

Journal: NPJ digital medicine

Published: June 23, 2025