Associated Papers
Next-generation sequencing for pediatric-onset neuromuscular disorders unresolved by conventional diagnostic methods.
Kulsirichawaroj P et al.
Pediatric Research, 2025
40494860 (PubMed )
Supplement: 41390_2025_4160_MOESM3_ESM.pdf
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
Characterization of Clinical Phenotypes in Congenital Myasthenic Syndrome Associated with the c.1327delG Frameshift Mutation in CHRNE Encoding the Acetylcholine Receptor Epsilon Subunit.
Kastreva K et al.
Journal of Neuromuscular Diseases, 2024
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 Turkey: clinical and genetic features in the long-term follow-up of patients.
Gül Mert G et al.
Acta Neurologica Belgica, 2021
Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain.
Gonzalez-Quereda L et al.
Genes, 2020
32403337 (PubMed )
Supplement: genes-11-00539-s001.pdf
Clinical and genetic characterization of an Italian family with slow-channel syndrome.
Angelini C et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2019
Congenital myasthenic syndromes in Turkey: Clinical clues and prognosis with long term follow-up.
Durmus H et al.
Neuromuscular Disorders : Nmd, 2018
A Missense Mutation in Epsilon-subunit of Acetylcholine Receptor Causing Autosomal Dominant Slow-channel Congenital Myasthenic Syndrome in a Chinese Family.
Tan JZ et al.
Chinese Medical Journal, 2016
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