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Neuromuscular Disorders : NMD|July 1, 2021
Risk factors and future directions for preventing and diagnosing exertional rhabdomyolysisAndréia Carneiro, Diego Viana-Gomes, Janaina Macedo-da-Silva, et al.
Clinical Neurology and Neurosurgery|February 18, 2020
Clinical features of collagen VI-related dystrophies: A large Brazilian cohortEdmar Zanoteli, Priscilla Souza Soares, André Macedo Serafim da Silva, et al.
The New England Journal of Medicine|July 28, 2021
Risdiplam-Treated Infants with Type 1 Spinal Muscular Atrophy versus Historical ControlsBasil T Darras, Riccardo Masson, Maria Mazurkiewicz-Bełdzińska, et al.
Brain : a Journal of Neurology|November 14, 2018
A novel ATP1A2 mutation in a patient with hypokalaemic periodic paralysis and CNS symptomsMarisol Sampedro Castañeda, Edmar Zanoteli, Renata S Scalco, et al.
JCI Insight|November 6, 2025
Myosin inhibition partially rescues the myofiber proteome in X-linked myotubular myopathyElise Gerlach Melhedegaard, Fanny Rostedt, Charlotte Gineste, et al.
European Journal of Neurology|November 8, 2021
Congenital myasthenic syndrome: Correlation between clinical features and molecular diagnosisEduardo P Estephan, Antonio A Zambon, Rachel Thompson, et al.
Annals of Clinical and Translational Neurology|March 19, 2026
Cracking the Code: Genotype-Phenotype Correlation Models in SarcoglycanopathiesLeonela Luce, Goknur Selen Kocak, José Verdú-Díaz, et al.
Respiratory Physiology & Neurobiology|May 21, 2026
Adaptive and Degenerative Remodeling of the Diaphragm in Patients with Interstitial Lung Disease: A Cross-Sectional StudyOzires Pereira Santos Ramos, Mariana Matera Veras, André Macedo Serafim Silva, et al.
Frontiers in Neurology|October 5, 2020
Myasthenia Gravis and COVID-19: Clinical Characteristics and OutcomesAntonio E Camelo-Filho, André M S Silva, Eduardo P Estephan, et al.
JCI Insight|October 3, 2023
Human skeletal myopathy myosin mutations disrupt myosin head sequestrationGlenn Carrington, Abbi Hau, Sarah Kosta, et al.
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