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
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG51
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
The Expansion of the Spectrum in Stuttering Disorders to a Novel ARMC Gene Family (ARMC3).
Rehman AU et al.
Genes, 2022
36553564 (PubMed )
Supplement: genes-13-02299-s001.zip › genes-2028962-supplementary.pdf
Neuroanatomical anomalies associated with rare AP4E1 mutations in people who stutter.
Chow HM et al.
Brain Communications, 2021
Integrating structural and evolutionary data to interpret variation and pathogenicity in adapter protein complex 4.
Gadbery JE et al.
Protein Science : a Publication of the Protein Society, 2020
Association between Rare Variants in AP4E1, a Component of Intracellular Trafficking, and Persistent Stuttering.
Raza MH et al.
American Journal of Human Genetics, 2015
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