Associated Papers
Clinical and genetic diversity in Iranian individuals with RAPSN-related congenital myasthenic syndrome.
Ghasemi A et al.
Neurogenetics, 2024
Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosis.
Theuriet J et al.
Brain : a Journal of Neurology, 2024
38696726 (PubMed )
Supplement: awae124_supplementary_data.pdf
Decoding Missense Variants by Incorporating Phase Separation via Machine Learning.
Feng M et al.
Nature Communications, 2024
39333476 (PubMed )
Supplement: 41467_2024_52580_MOESM4_ESM.xlsx › impact_ps_mutations
Preimplantation genetic testing as a means of preventing hereditary congenital myasthenic syndrome caused by RAPSN.
Zhang Z et al.
Molecular Genetics & Genomic Medicine, 2024
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic Medicine, 2024
38374194 (PubMed )
Supplement: 41525_2024_393_MOESM3_ESM.xlsx › Supplementary_Table_2
The role of Rapsyn in neuromuscular junction and congenital myasthenic syndrome.
Liao X et al.
Biomolecules & Biomedicine, 2023
From phosphorylation to phenotype - Recent key findings on kinase regulation, downstream signaling and disease surrounding the receptor tyrosine kinase MuSK.
Prömer J et al.
Cellular Signalling, 2023
Clinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35 Genes-A Comprehensive Review.
Ohno K et al.
International Journal of Molecular Sciences, 2023
Membraneless condensates by Rapsn phase separation as a platform for neuromuscular junction formation.
Xing G et al.
Neuron, 2021
Limb girdle myasthenia with digenic RAPSN and a novel disease gene AK9 mutations.
Lam CW et al.
European Journal of Human Genetics : Ejhg, 2017
Myasthenic syndrome due to defects in rapsyn: Clinical and molecular findings in 39 patients.
Milone M et al.
Neurology, 2009
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