Associated Papers
CHRNE-related congenital myasthenic syndrome in Iran: Clinical and molecular insights.
Karimi N et al.
Neuromuscular Disorders : Nmd, 2025
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
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
Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort.
Polavarapu K et al.
Brain : a Journal of Neurology, 2024
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
A common CHRNE mutation in Brazilian patients with congenital myasthenic syndrome.
Estephan EP et al.
Journal of Neurology, 2018
Molecular characterization of congenital myasthenic syndromes in Spain.
Natera-de Benito D et al.
Neuromuscular Disorders : Nmd, 2017
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