Associated Papers
The Impact of VAMP1 Mutations on Synaptic Vesicle Fusion Dynamics in Familial Spastic Disorders.
Israr S et al.
Journal of Child Neurology, 2026
VAMP1-Related Congenital Myasthenic Syndrome: A Case Report and Literature Review.
Yıldırım M et al.
Neuropediatrics, 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
High diagnostic yield with algorithmic molecular approach on hereditary neuropathies.
Ceylan GG et al.
Revista Da Associacao Medica Brasileira (1992), 2023
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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