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Journal of Neurology|August 21, 2023
Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosisDiana Esteller, Marianela Schiava, José Verdú-Díaz, et al.Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology|September 9, 2020
Estimating the impact of COVID-19 pandemic on services provided by Italian Neuromuscular Centers: an Italian Association of Myology survey of the acute phaseEleonora Mauri, Elena Abati, Olimpia Musumeci, et al.Brain : a Journal of Neurology|February 12, 2026
Missense variants in TUBA4A cause myo-tubulinopathiesMridul Johari, Chiara Folland, Yoshihiko Saito, et al.Nature Genetics|March 1, 2024
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathyAna Töpf, Dan Cox, Irina T Zaharieva, et al.Pageof 16