Associated Papers
Clinical and genetic features of congenital myasthenic syndrome due to the muscle acetylcholine receptor genes.
Guan J et al.
Brain & Development, 2025
Blood biomarker fingerprints in a cohort of patients with CHRNE-related congenital myasthenic syndrome.
Della Marina A et al.
Acta Neuropathologica Communications, 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
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic Medicine, 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
Electrophysiological evaluation of the neuromuscular junction: a brief review.
Kouyoumdjian JA et al.
Arquivos De Neuro-psiquiatria, 2023
Congenital myasthenic syndrome: Correlation between clinical features and molecular diagnosis.
Estephan EP et al.
European 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
A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in Indians.
Kausthubham N et al.
Human Mutation, 2021
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
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