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Neurology|February 6, 2015
Prevalence of congenital muscular dystrophy in Italy: a population studyAlessandra Graziano, Flaviana Bianco, Adele D'Amico, et al.Journal of Neurology|June 7, 2025
Characterisation of a large, single-centre cohort of patients with Becker muscular dystrophy to inform standardised care guidelinesPietro Riguzzi, Holly Borland, Meredith K James, et al.Acta Neuropathologica|April 4, 2026
Brachio-cervical inflammatory myopathy: multilevel clinical, histopathological and multi-omic analyses of a syndrome variably associated with systemic sclerosisFelix Kleefeld, Joanna Teran Gamboa, Iago Pinal-Fernandez, et al.Neuromuscular Disorders : NMD|June 12, 2024
Disease-associated comorbidities, medication records and anthropometric measures in adults with Duchenne muscular dystrophyMarianela Schiava, Robert Muni Lofra, John P Bourke, et al.Muscle & Nerve|May 18, 2016
The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosisFrancesca Magri, Vincenzo Nigro, Corrado Angelini, et al.Journal of Neurology|September 24, 2021
Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohortSusana Quijano-Roy, Jana Haberlova, Claudia Castiglioni, et al.Annals of Clinical and Translational Neurology|August 31, 2024
Expert panel curation of 31 genes in relation to limb girdle muscular dystrophyShruthi Mohan, Shannon McNulty, Courtney Thaxton, et al.Biorxiv : the Preprint Server for Biology|May 20, 2024
Expert Panel Curation of 31 Genes in Relation to Limb Girdle Muscular DystrophyShruthi Mohan, Shannon McNulty, Courtney Thaxton, 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.The Journal of Clinical Investigation|December 8, 2015
POPDC1(S201F) causes muscular dystrophy and arrhythmia by affecting protein traffickingRoland F R Schindler, Chiara Scotton, Jianguo Zhang, et al.Pageof 16