Associated Papers
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
40554605 (PubMed )
Supplement: pgen.1011755.s006.xlsx › TableS2
CHRNE-related congenital myasthenic syndrome in Iran: Clinical and molecular insights.
Karimi N et al.
Neuromuscular Disorders : Nmd, 2025
Congenital Myasthenic Syndrome associated with acetylcholine receptor deficiency: case report and review of the literature.
Batheja A et al.
Ophthalmic Genetics, 2024
38832364 (PubMed )
Supplement: supplement_1.pdf
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
39399040 (PubMed )
Supplement: media-1.xlsx › TableS2
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_8
Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort.
Polavarapu K et al.
Brain : a Journal of Neurology, 2024
Congenital myasthenic syndromes: a retrospective natural history study of respiratory outcomes in a single centre.
Poulos J et al.
Brain Communications, 2023
Pharmacological Strategy for Congenital Myasthenic Syndrome with CHRNE Mutations: A Meta-Analysis of Case Reports.
Huang K et al.
Current Neuropharmacology, 2021
32727330 (PubMed )
Supplement: CN-19-718_SD1.pdf
A rare c.183_187dupCTCAC mutation of the acetylcholine receptor CHRNE gene in a South Asian female with congenital myasthenic syndrome: a case report.
Chang T et al.
Bmc Neurology, 2016
Select a paper to view details