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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 Neuromuscular Diseases|September 18, 2025
Upper limb progression in Duchenne muscular dystrophy: Insights from a 36-month longitudinal study using the PUL 20Giorgia Coratti, Marika Pane, Sophia Paolucci, et al.
Brain : a Journal of Neurology|September 13, 2021
Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophyJorge Alonso-Pérez, Lidia González-Quereda, Claudio Bruno, et al.
Journal of Neurology|May 5, 2022
Genetic modifiers of upper limb function in Duchenne muscular dystrophyDaniele Sabbatini, Aurora Fusto, Sara Vianello, et al.
Acta Neuropathologica Communications|April 16, 2022
Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population studyAurora Fusto, Denise Cassandrini, Chiara Fiorillo, et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology|February 16, 2023
Emergencies cards for neuromuscular disorders 1<sup>st</sup> Consensus Meeting from UILDM - Italian Muscular Dystrophy Association Workshop reportFabrizio Racca, Valeria A Sansone, Federica Ricci, et al.
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