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
Genetic landscape of primary mitochondrial diseases in children and adults using molecular genetics and genomic investigations of mitochondrial and nuclear genome.
Ambrose A et al.
Orphanet Journal of Rare Diseases, 2024
39533303 (PubMed )
Supplement: 13023_2024_3437_MOESM9_ESM.xlsx › Nuclear
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 study of hereditary spastic paraplegia in Canada.
Chrestian N et al.
Neurology. Genetics, 2017
27957547 (PubMed )
Supplement: supp_3.1.e122_Table_e-1.xls › Feuil1
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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