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Medrxiv : the Preprint Server for Health Sciences|July 16, 2025
Missense variants in <i>TUBA4A</i> cause myo-tubulinopathiesMridul Johari, Chiara Folland, Yoshihiko Saito, et al.Journal of Cachexia, Sarcopenia and Muscle|April 25, 2025
Myo-Guide: A Machine Learning-Based Web Application for Neuromuscular Disease Diagnosis With MRIJose Verdu-Diaz, Carla Bolano-Díaz, Alejandro Gonzalez-Chamorro, et al.Journal of Neurology, Neurosurgery, and Psychiatry|July 27, 2022
Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre studyMarianela Schiava, Chiseko Ikenaga, Rocío Nur Villar-Quiles, et al.Arquivos De Neuro-Psiquiatria|June 16, 2021
Cannabinoids in Neurology - Position paper from Scientific Departments from Brazilian Academy of NeurologySonia Maria Dozzi Brucki, Tarso Adoni, Carlos Mauricio Oliveira Almeida, et al.Brain : a Journal of Neurology|February 12, 2026
Missense variants in TUBA4A cause myo-tubulinopathiesMridul Johari, Chiara Folland, Yoshihiko Saito, et al.Medrxiv : the Preprint Server for Health Sciences|April 10, 2026
High risk of hypoxemic COVID-19 pneumonia in myasthenia gravis patients with type I IFN autoantibodiesAdrian Gervais, Astrid Marchal, Alexis Maillard, et al.Human Mutation|March 8, 2012
Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathyJohann Böhm, Valérie Biancalana, Elizabeth T Dechene, et al.Pageof 16