Associated Papers
Advancing the Understanding of Vesicle-Associated Membrane Protein 1-Related Congenital Myasthenic Syndrome: Phenotypic Insights, Favorable Response to 3,4-Diaminopyridine, and Clinical Characterization of Five New Cases.
Natera-de Benito D et al.
Pediatric Neurology, 2024
Expanding the genetic and phenotypic spectrum of congenital myasthenic syndrome: new homozygous VAMP1 splicing variants in 2 novel individuals.
Cotrina-Vinagre FJ et al.
Journal of Human Genetics, 2024
Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort.
Polavarapu K et al.
Brain : a Journal of Neurology, 2024
Recessive VAMP1 mutations associated with severe congenital myasthenic syndromes - A recognizable clinical phenotype.
Polavarapu K et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2021
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