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Acta Neuropathologica Communications|December 17, 2022
NEB mutations disrupt the super-relaxed state of myosin and remodel the muscle metabolic proteome in nemaline myopathyNatasha Ranu, Jenni Laitila, Hannah F Dugdale, et al.European Journal of Neurology|August 16, 2022
European Neuromuscular Centre consensus statement on anaesthesia in patients with neuromuscular disordersLuuk R van den Bersselaar, Luc Heytens, Helga C A Silva, et al.European Journal of Neurology|April 1, 2024
Functional abilities, respiratory and cardiac function in a large cohort of adults with Duchenne muscular dystrophy treated with glucocorticoidsMarianela Schiava, Robert Muni Lofra, John P Bourke, et al.Journal of Neuropathology and Experimental Neurology|September 9, 2021
High-Throughput Digital Image Analysis Reveals Distinct Patterns of Dystrophin Expression in Dystrophinopathy PatientsSilvia Torelli, Domenic Scaglioni, Valentina Sardone, et al.Scientific Reports|February 9, 2024
Imaging mass cytometry analysis of Becker muscular dystrophy muscle samples reveals different stages of muscle degenerationPatricia Piñol-Jurado, José Verdú-Díaz, Esther Fernández-Simón, et al.Neuromuscular Disorders : NMD|September 13, 2023
Muscle magnetic resonance imaging of a large cohort of distal hereditary motor neuropathies reveals characteristic features useful for diagnosisDiana Esteller, Jasper Morrow, Jorge Alonso-Pérez, et al.Frontiers in Neurology|August 28, 2020
Clinical and Molecular Spectrum of Myotonia and Periodic Paralyses Associated With Mutations in SCN4A in a Large Cohort of Italian PatientsLorenzo Maggi, Raffaella Brugnoni, Eleonora Canioni, et al.Brain : a Journal of Neurology|April 1, 2021
INPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDHDenisa Hathazi, Dan Cox, Adele D'Amico, et al.Journal of Neurology, Neurosurgery, and Psychiatry|April 23, 2013
Hereditary myopathy with early respiratory failure: occurrence in various populationsJohanna Palmio, Anni Evilä, Françoise Chapon, et al.Journal of Neurology, Neurosurgery, and Psychiatry|February 27, 2026
Respiratory function in Becker muscular dystrophy: a comprehensive longitudinal studyPietro Riguzzi, Emma Grover, Marianela Schiava, et al.Pageof 16