Associated Papers
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
Novel synaptobrevin-1 mutation causes fatal congenital myasthenic syndrome.
Shen XM et al.
Annals of Clinical and Translational Neurology, 2017
VAMP1 mutation causes dominant hereditary spastic ataxia in Newfoundland families.
Bourassa CV et al.
American Journal of Human Genetics, 2012
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