Clinical and molecular analysis of a novel variant responsive to salbutamol monotherapy during COVID-19 outbreak related to congenital and late-onset of myasthenic syndrome in large kindred
Preprint in Research Square (May 2024)
The most recent citing publications are shown below. View all 6 publications that cite this research output on Dimensions.
Clinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35 Genes—A Comprehensive Review
Article in International Journal of Molecular Sciences (February 2023)
Congenital myasthenic syndrome due to DOK7 mutation in a cohort of patients with ‘unexplained’ limb-girdle muscular weakness
Article in Journal of Clinical Neuroscience (March 2020)