Associated Papers
The role of Rapsyn in neuromuscular junction and congenital myasthenic syndrome.
Liao X et al.
Biomolecules & Biomedicine, 2023
Congenital myasthenic syndromes and the formation of the neuromuscular junction.
Beeson D et al.
Annals of the New York Academy of Sciences, 2008
The congenital myasthenic syndrome mutation RAPSN N88K derives from an ancient Indo-European founder.
Müller JS et al.
Journal of Medical Genetics, 2004
Common founder effect of rapsyn N88K studied using intragenic markers.
Dunne V et al.
Journal of Human Genetics, 2004
Rapsyn mutations in hereditary myasthenia: distinct early- and late-onset phenotypes.
Burke G et al.
Neurology, 2003
Rapsyn mutations in myasthenic syndrome due to impaired receptor clustering.
Maselli RA et al.
Muscle & Nerve, 2003
Identification of pathogenic mutations in the human rapsyn gene.
Dunne V et al.
Journal of Human Genetics, 2003
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