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 18 publications that cite this research output on Dimensions.
Divergent Phenotypes with Same CHRNE Mutation in Two Siblings with Congenital Myasthenic Syndrome
Article in Indian Pediatrics Case Reports (April 2024)
Rare disease research workflow using multilayer networks elucidates the molecular determinants of severity in Congenital Myasthenic Syndromes
Article in Nature Communications (February 2024)