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Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis|March 3, 2026
Early cardiac sympathetic denervation in hereditary transthyretin amyloidosis: <sup>123</sup>I-metaiodobenzylguanidine findings and correlation with skin biopsyViviana Frantellizzi, Chiara Cambieri, Eleonora Galosi, et al.Journal of Medical Genetics|June 25, 2025
New variants and genotype-phenotype correlation in <i>KIF5A</i> mutation: the contribution of a large Italian cohortRosangela Ferese, Antonio Suppa, Rosa Campopiano, et al.Scandinavian Journal of Immunology|November 25, 2025
Diagnostic Performance of Three Serological Assays in Myasthenia Gravis: A Prospective Multicentre StudyLaura Cuomo, Laura De Giglio, Maria Antonietta Isgrò, et al.Journal of Medical Genetics|March 23, 2018
Monosomy 18p is a risk factor for facioscapulohumeral dystrophyJudit Balog, Remko Goossens, Richard J L F Lemmers, et al.Neurology|April 14, 2019
FSHD1 and FSHD2 form a disease continuumSabrina Sacconi, Audrey Briand-Suleau, Marilyn Gros, et al.Journal of Neurology|June 28, 2023
Retrospective observational study on the use of acetyl-L-carnitine in ALSSerena Sassi, Elisa Bianchi, Luca Diamanti, et al.European Journal of Neurology|June 2, 2026
Deep Phenotyping of F64L Mutation in a Multicentric Cohort of Patisiran-Treated Hereditary Transthyretin Amyloidosis Patients (Patisiranitaly)Marco Ceccanti, Pietro Guaraldi, Angela Romano, et al.Pageof 4