Associated Papers
Prevalence and Geographical Distribution of Patients With Congenital Myasthenic Syndromes in the United Kingdom.
Rossini E et al.
Muscle & Nerve, 2026
Genetic spectrum among 2009 Iranian individuals with neuromuscular disorders using next generation sequencing and multiple ligation dependent probe amplification methods.
Molaei N et al.
Scientific Reports, 2025
Clinical and genetic features of congenital myasthenic syndrome due to the muscle acetylcholine receptor genes.
Guan J et al.
Brain & Development, 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 Syndrome-4C in a Consanguineous Romani Family: Genetic Insights and Clinical Implications.
Petchesi CD et al.
Diagnostics (basel, Switzerland), 2025
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
Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centre.
Sheth J et al.
Orphanet Journal of Rare Diseases, 2024
Next-generation sequencing and comprehensive data reassessment in 263 adult patients with neuromuscular disorders: insights into the gray zone of molecular diagnoses.
Krenn M et al.
Journal of Neurology, 2024
Rare disease research workflow using multilayer networks elucidates the molecular determinants of severity in Congenital Myasthenic Syndromes.
Núñez-Carpintero I et al.
Nature Communications, 2024
Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort.
Polavarapu K et al.
Brain : a Journal of Neurology, 2024
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
Genetic, serological and clinical evaluation of childhood myasthenia syndromes- single center subgroup analysis experience in Turkey.
Özsoy Ö et al.
Acta Neurologica Belgica, 2023
Genetic and clinical evaluation of congenital myasthenic syndromes with long-term follow-up: experience of a tertiary center in Turkey.
Yildiz EP et al.
Acta Neurologica Belgica, 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
The clinical and molecular landscape of congenital myasthenic syndromes in Austria: a nationwide study.
Krenn M et al.
Journal of Neurology, 2023
Analysis of clinically relevant variants from ancestrally diverse Asian genomes.
Chan SH et al.
Nature Communications, 2022
Salbutamol monotherapy in acetylcholine receptor deficiency-related congenital myasthenic syndrome due to CHRNE mutation.
Dutta A et al.
Journal of Neurology, 2022
Congenital myasthenic syndrome in a cohort of patients with 'double' seronegative myasthenia gravis.
Lorenzoni PJ et al.
Arquivos De Neuro-psiquiatria, 2022
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
The Results of Whole Exome Sequencing Performed On Previously Undiagnosed Pediatric Neurology Patients.
Ahmadnia N et al.
Iranian Journal of Child Neurology, 2021
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
Italian recommendations for diagnosis and management of congenital myasthenic syndromes.
Maggi L et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2019
Congenital myasthenic syndromes.
Finsterer J
Orphanet Journal of Rare Diseases, 2019
No Hot Spot Mutations CHRNE c.1327 delG, CHAT c.914T>C, and RAPSN c.264C>A in Iranian Patients with Congenital Myasthenic Syndrome.
Parvizi Omran S et al.
Iranian Journal of Child Neurology, 2019
Congenital myasthenic syndromes in Turkey: Clinical clues and prognosis with long term follow-up.
Durmus H et al.
Neuromuscular Disorders : Nmd, 2018
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
Genetic Landscape of Congenital Myasthenic Syndromes From Turkey: Novel Mutations and Clinical Insights.
Yiş U et al.
Journal of Child Neurology, 2017
Myopathology in the times of modern genetics.
Schuelke M et al.
Neuropathology and Applied Neurobiology, 2017
Amifampridine phosphate in congenital myasthenic syndrome.
Verma S et al.
Muscle & Nerve, 2016
Ephedrine in the treatment of congenital myasthenic syndrome.
Felice KJ et al.
Muscle & Nerve, 1996