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Plos One|January 15, 2014
6 Minute walk test in Duchenne MD patients with different mutations: 12 month changesMarika Pane, Elena S Mazzone, Maria Pia Sormani, et al.
European Journal of Pediatrics|December 16, 2024
Prevalence of Duchenne muscular dystrophy in Italy: a nationwide surveyAnna Capasso, Gianpaolo Cicala, Martina Ricci, et al.
Neurology. Genetics|December 30, 2020
Ethnicity-related DMD Genotype Landscapes in European and Non-European CountriesRita Selvatici, Rachele Rossi, Fernanda Fortunato, et al.
Orphanet Journal of Rare Diseases|July 21, 2023
Digital health and Clinical Patient Management System (CPMS) platform utility for data sharing of neuromuscular patients: the Italian EURO-NMD experienceFernanda Fortunato, Francesca Bianchi, Giulia Ricci, et al.
Frontiers in Genetics|March 21, 2020
The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide StudyMarcella Neri, Rachele Rossi, Cecilia Trabanelli, et al.
Genome Research|March 26, 2025
Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencingWouter Steyaert, Lydia Sagath, German Demidov, et al.
Medrxiv : the Preprint Server for Health Sciences|May 15, 2024
Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencingWouter Steyaert, Lydia Sagath, German Demidov, et al.
Frontiers in Public Health|June 26, 2026
European Reference Networks as core health structures where referring genetic newborn screening positive infants: an innovative operational research frameworkFernanda Fortunato, Rita Selvatici, Jan Kirschner, et al.
Brain : a Journal of Neurology|November 5, 2024
Natural history of Becker muscular dystrophy: DMD gene mutations predict clinical severityDomenico Gorgoglione, Daniele Sabbatini, Pietro Riguzzi, et al.
Plos One|November 22, 2023
Genetic newborn screening and digital technologies: A project protocol based on a dual approach to shorten the rare diseases diagnostic path in EuropeNicolas Garnier, Joanne Berghout, Aldona Zygmunt, et al.
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