Associated Papers
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
40604033 (PubMed )
Supplement: 41598_2025_8012_MOESM1_ESM.xlsx › S3
The role of Rapsyn in neuromuscular junction and congenital myasthenic syndrome.
Liao X et al.
Biomolecules & Biomedicine, 2023
Congenital familial myasthenic syndromes: disease and course in an affected dizygotic twin pair.
Pavone P et al.
Bmj Case Reports, 2013
Mutation analysis of CHRNA1, CHRNB1, CHRND, and RAPSN genes in multiple pterygium syndrome/fetal akinesia patients.
Vogt J et al.
American Journal of Human Genetics, 2008
Congenital myasthenic syndromes and the formation of the neuromuscular junction.
Beeson D et al.
Annals of the New York Academy of Sciences, 2008
Congenital myasthenic syndromes: spotlight on genetic defects of neuromuscular transmission.
Müller JS et al.
Expert Reviews in Molecular Medicine, 2007
Diverse molecular mechanisms involved in AChR deficiency due to rapsyn mutations.
Cossins J et al.
Brain : a Journal of Neurology, 2006
Rapsyn mutations in hereditary myasthenia: distinct early- and late-onset phenotypes.
Burke G et al.
Neurology, 2003
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