Associated Papers
Prevalence and Geographical Distribution of Patients With Congenital Myasthenic Syndromes in the United Kingdom.
Rossini E et al.
Muscle & Nerve, 2026
Congenital Myasthenic Syndrome: Long-Term Outcomes up to 60 Years, Molecular Characterization, and Eight Novel Variants.
Akçay AA et al.
Clinical Genetics, 2025
Salbutamol in the management of congenital myasthenic syndrome (CMS) and associated IgA and IgG Deficiency.
Abdullah A et al.
Jpma. the Journal of the Pakistan Medical Association, 2025
Blood biomarker fingerprints in a cohort of patients with CHRNE-related congenital myasthenic syndrome.
Della Marina A et al.
Acta Neuropathologica Communications, 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 and genetic characterisation of a large Indian congenital myasthenic syndrome cohort.
Polavarapu K et al.
Brain : a Journal of Neurology, 2024
The clinical and molecular landscape of congenital myasthenic syndromes in Austria: a nationwide study.
Krenn M et al.
Journal of Neurology, 2023
Genotype-guided diagnostic reassessment after exome sequencing in neuromuscular disorders: experiences with a two-step approach.
Krenn M et al.
European Journal of Neurology, 2020
Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause.
Theunissen TEJ et al.
Frontiers in Genetics, 2018
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