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_2
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
Megarbane A et al.
Journal of Neuromuscular Diseases, 2022
Clinical and molecular characteristics in three families with biallelic mutations in IGHMBP2.
Pedurupillay CR et al.
Neuromuscular Disorders : Nmd, 2016
Autosomal recessive axonal polyneuropathy in a sibling pair due to a novel homozygous mutation in IGHMBP2.
Wagner JD et al.
Neuromuscular Disorders : Nmd, 2015
Clinical and mutational characteristics of spinal muscular atrophy with respiratory distress type 1 in The Netherlands.
Stalpers XL et al.
Neuromuscular Disorders : Nmd, 2013
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