Associated Papers
A Cohort of Iranian Patients With Congenital Myasthenic Syndrome due to Glycosylation Defects.
Ramezani M et al.
Muscle & Nerve, 2026
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_2
Single-center experience of N-linked Congenital Disorders of Glycosylation with a Summary of Molecularly Characterized Cases in Arabs.
Bastaki F et al.
Annals of Human Genetics, 2018
Clinical and pathological heterogeneity of a congenital disorder of glycosylation manifesting as a myasthenic/myopathic syndrome.
Monies DM et al.
Neuromuscular Disorders : Nmd, 2014
Congenital myasthenic syndromes due to mutations in ALG2 and ALG14.
Cossins J et al.
Brain : a Journal of Neurology, 2013
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