Associated Papers
Congenital familial myasthenic syndromes: disease and course in an affected dizygotic twin pair.
Pavone P et al.
Bmj Case Reports, 2013
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
E-box mutations in the RAPSN promoter region in eight cases with congenital myasthenic syndrome.
Ohno K et al.
Human Molecular Genetics, 2003
Identification of pathogenic mutations in the human rapsyn gene.
Dunne V et al.
Journal of Human Genetics, 2003
Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome.
Ohno K et al.
American Journal of Human Genetics, 2002
Select a paper to view details