Associated Papers
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
41315541 (PubMed )
Supplement: 41598_2025_26836_MOESM1_ESM.xlsx › Table_1
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_7
LRP4 site-specific variants in the third β-propeller domain causes congenital myasthenic syndrome type 17.
Al Jabry T et al.
European Journal of Medical Genetics, 2024
New mutation in the β1 propeller domain of LRP4 responsible for congenital myasthenic syndrome associated with Cenani-Lenz syndrome.
Masingue M et al.
Scientific Reports, 2023
The diagnostic yield, candidate genes, and pitfalls for a genetic study of intellectual disability in 118 middle eastern families.
Al-Kasbi G et al.
Scientific Reports, 2022
36344539 (PubMed )
Supplement: 41598_2022_22036_MOESM2_ESM.xlsx › Table1
Dissecting the Extracellular Complexity of Neuromuscular Junction Organizers.
Guarino SR et al.
Frontiers in Molecular Biosciences, 2019
Congenital myasthenic syndromes: recent advances.
Beeson D
Current Opinion in Neurology, 2016
Impaired Synaptic Development, Maintenance, and Neuromuscular Transmission in LRP4-Related Myasthenia.
Selcen D et al.
Jama Neurology, 2015
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