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European Journal of Neurology|October 19, 2022
Mutations in MYO9B are associated with Charcot-Marie-Tooth disease type 2 neuropathies and isolated optic atrophySilvia Cipriani, Marta Guerrero-Valero, Stefano Tozza, et al.Journal of the Peripheral Nervous System : JPNS|June 5, 2026
A Quantitative Assessment of Upper Limb Motor Function Across Disease Stages in Hereditary Transthyretin AmyloidosisMehrnaz Hamedani, Valeria Prada, Sara Massucco, et al.Journal of Neurology, Neurosurgery, and Psychiatry|November 2, 2023
Use, tolerability, benefits and side effects of orthotic devices in Charcot-Marie-Tooth diseaseAlessandro Bertini, Fiore Manganelli, Gian Maria Fabrizi, et al.Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|April 15, 2024
Long-term treatment of hereditary transthyretin amyloidosis with patisiran: multicentre, real-world experience in ItalyLuca Gentile, Anna Mazzeo, Chiara Briani, et al.Journal of Neurology|August 4, 2023
Daytime sleepiness and sleep quality in Charcot-Marie-Tooth diseaseMarta Bellofatto, Luca Gentile, Alessandro Bertini, et al.Neuropathology and Applied Neurobiology|July 29, 2022
The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatmentChiara Fiorillo, Giovanna Capodivento, Alessandro Geroldi, et al.Journal of Neurology, Neurosurgery, and Psychiatry|June 7, 2019
Expanding the spectrum of genes responsible for hereditary motor neuropathiesStefano C Previtali, Edward Zhao, Dejan Lazarevic, et al.European Journal of Neurology|February 13, 2025
Disease Progression in Charcot-Marie-Tooth Disease Type 4B (CMT4B) Associated With Mutations in Myotubularin-Related Proteins 2 and 13Alessandro Bertini, Mary M Reilly, Chiara Pisciotta, et al.European Journal of Neurology|May 12, 2023
Clinical spectrum and frequency of Charcot-Marie-Tooth disease in Italy: Data from the National CMT RegistryChiara Pisciotta, Alessandro Bertini, Irene Tramacere, et al.Journal of Neurology|February 15, 2025
Patisiran in ATTRv amyloidosis with polyneuropathy: "PatisiranItaly" multicenter observational studyVincenzo Di Stefano, Pietro Guaraldi, Angela Romano, et al.Pageof 9