F. Fortunato

The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study

Marcella Neri, Rachele Rossi, Cecilia Trabanelli et al. · Frontiers in Genetics · 2020 · 80 citations · Full text

263rd ENMC International Workshop: Focus on female carriers of dystrophinopathy: refining recommendations for prevention, diagnosis, surveillance, and treatment. Hoofddorp, The Netherlands, 13-15 May 2022

Anna Sárközy, Rosaline C. M. Quinlivan, John Bourke et al. · Neuromuscular Disorders · 2023 · 28 citations · Full text

Female Carriers, Urology, Refining Recommendations +7

Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries

Rita Selvatici, Rachele Rossi, F. Fortunato et al. · Neurology Genetics · 2020 · 21 citations · Full text

Report of a novel ATP7A mutation causing distal motor neuropathy

Francesca Gualandi, Elisabetta Sette, F. Fortunato et al. · Neuromuscular Disorders · 2019 · 17 citations

Molecular Neuroscience, Medicine, Novel Atp7a Mutation +5

Genetic newborn screening and digital technologies: A project protocol based on a dual approach to shorten the rare diseases diagnostic path in Europe

Nicolas Garnier, Joanne Berghout, Aldona Zygmunt et al. · PLoS ONE · 2023 · 13 citations · Full text