Associated Papers
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S et al.
Nature Medicine, 2025
39825153 (PubMed )
Supplement: 41591_2024_3420_MOESM3_ESM.xlsx › SuppTableS4.Disease_Causing
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
Challenges in Diagnosing and Treating Myasthenia Gravis in Infants and Children with Presentation of Cases.
Bricoune O et al.
Advances in Pediatrics, 2023
Novel synaptobrevin-1 mutation causes fatal congenital myasthenic syndrome.
Shen XM et al.
Annals of Clinical and Translational Neurology, 2017
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