Associated Papers
Blood biomarker fingerprints in a cohort of patients with CHRNE-related congenital myasthenic syndrome.
Della Marina A et al.
Acta Neuropathologica Communications, 2025
Assessing the Utility of ColabFold and AlphaMissense in Determining Missense Variant Pathogenicity for Congenital Myasthenic Syndromes.
Ryan-Phillips F et al.
Biomedicines, 2024
39595115 (PubMed )
Supplement: biomedicines-12-02549-s001.zip › AlphaMissense_vs_Alamut_and_EVE_Results.xlsx › Sheet1
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
Comprehensive evaluation of AlphaMissense predictions by evidence quantification for variants of uncertain significance.
Kurtovic-Kozaric A et al.
Frontiers in Genetics, 2024
39720176 (PubMed )
Supplement: Table1.xlsx › Supplementary_Table_1
Congenital myasthenic syndrome in Japan: ethnically unique mutations in muscle nicotinic acetylcholine receptor subunits.
Azuma Y et al.
Neuromuscular Disorders : Nmd, 2015
Select a paper to view details