Associated Papers
Clinical and genetic features of congenital myasthenic syndrome due to the muscle acetylcholine receptor genes.
Guan J et al.
Brain & Development, 2025
Homozygous Duplication in the CHRNE in a Family with Congenital Myasthenic Syndrome 4C: 18-Year Follow Up.
Almatrafi AM et al.
Biomedicines, 2023
Genetic Diagnostic Yield and Novel Causal Genes of Congenital Heart Disease.
Tan M et al.
Frontiers in Genetics, 2022
35910219 (PubMed )
Supplement: DataSheet1.xlsx › Table_S7
The metabolic genomic atlas reveals potential drivers and clinically relevant insights into the etiology of esophageal squamous cell carcinoma.
Liu X et al.
Theranostics, 2022
36168622 (PubMed )
Supplement: thnov12p6160s2.xlsx › Table_S2
Congenital myasthenic syndrome in China: genetic and myopathological characterization.
Zhao Y et al.
Annals of Clinical and Translational Neurology, 2021
CHRNE compound heterozygous mutations in congenital myasthenic syndrome: A case report.
Yang K et al.
Medicine, 2018
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
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