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
Further delineation of the SCAF4-associated neurodevelopmental disorder.
Schmid CM et al.
European Journal of Human Genetics : Ejhg, 2025
39668183 (PubMed )
Supplement: 41431_2024_1760_MOESM1_ESM.xlsx › Supplement_S1
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
ClC-1 Chloride Channel: Inputs on the Structure-Function Relationship of Myotonia Congenita-Causing Mutations.
Brenes O et al.
Biomedicines, 2023
Translating genetic and functional data into clinical practice: a series of 223 families with myotonia.
Suetterlin K et al.
Brain : a Journal of Neurology, 2022
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.
Töpf A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
32528171 (PubMed )
Supplement: 41436_2020_840_MOESM10_ESM.xlsx › .
Chloride channel myotonia: exon 8 hot-spot for dominant-negative interactions.
Fialho D et al.
Brain : a Journal of Neurology, 2007
Diagnostics in skeletal muscle channelopathies.
Vicino A et al.
Expert Review of Molecular Diagnostics, 0
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