Associated Papers
Preimplantation genetic testing as a means of preventing hereditary congenital myasthenic syndrome caused by RAPSN.
Zhang Z et al.
Molecular Genetics & Genomic Medicine, 2024
The role of Rapsyn in neuromuscular junction and congenital myasthenic syndrome.
Liao X et al.
Biomolecules & Biomedicine, 2023
A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders.
George AJ et al.
Frontiers in Genetics, 2018
29491882 (PubMed )
Supplement: Table2.xlsx › Sheet1
Myasthenic syndrome due to defects in rapsyn: Clinical and molecular findings in 39 patients.
Milone M et al.
Neurology, 2009
Novel truncating RAPSN mutations causing congenital myasthenic syndrome responsive to 3,4-diaminopyridine.
Banwell BL et al.
Neuromuscular Disorders : Nmd, 2004
Lack of founder haplotype for the rapsyn N88K mutation: N88K is an ancient founder mutation or arises from multiple founders.
Ohno K et al.
Journal of Medical Genetics, 2004
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