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Frontiers in Neurology|February 27, 2023
Neuropathic pain experience in symptomatic and presymptomatic subjects carrying a transthyretin gene mutationStefano Tozza, Marco Luigetti, Giovanni Antonini, et al.
Frontiers in Neurology|June 25, 2019
A Novel CAPN1 Mutation Causes a Pure Hereditary Spastic Paraplegia in an Italian FamilyStefano Cotti Piccinelli, Maria T Bassi, Andrea Citterio, et al.
Orphanet Journal of Rare Diseases|October 6, 2018
Autosomal-dominant transthyretin (TTR)-related amyloidosis is not a frequent CMT2 neuropathy "in disguise"Marina Grandis, Alessandro Geroldi, Rossella Gulli, et al.
Neurobiology of Disease|August 7, 2025
Circulating mitochondrial components and metabolic and inflammatory markers in Charcot-Marie-Tooth type 2BGiulia Girolimetti, Federico Marini, Riccardo Calvani, et al.
Brain Sciences|May 27, 2023
Machine Learning for Early Diagnosis of ATTRv Amyloidosis in Non-Endemic Areas: A Multicenter Study from ItalyVincenzo Di Stefano, Francesco Prinzi, Marco Luigetti, et al.
European Journal of Neurology|September 19, 2023
Serum neurofilament light chain: a promising early diagnostic biomarker for hereditary transthyretin amyloidosis?Angela Romano, Guido Primiano, Giovanni Antonini, et al.
Brain Sciences|August 6, 2020
Diagnosis and Management of Type 1 Sialidosis: Clinical Insights from Long-Term Care of Four Unrelated PatientsAntonietta Coppola, Marta Ianniciello, Ebru N Vanli-Yavuz, et al.
Brain : a Journal of Neurology|December 20, 2023
Skin innervation across amyotrophic lateral sclerosis clinical stages: new prognostic biomarkersMaria Nolano, Vincenzo Provitera, Giuseppe Caporaso, et al.
Neurology|May 5, 2017
Novel mutations in dystonin provide clues to the pathomechanisms of HSAN-VIFiore Manganelli, Silvia Parisi, Maria Nolano, et al.
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