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
Reactive gene curation to support interpretation and reporting of a clinical genome test for rare disease: Experience from over 1,000 cases.
Clause AR et al.
Cell Genomics, 2023
36819666 (PubMed )
Supplement: mmc1.pdf
Cervical Dystonia-A Rare Presentation of Spinocerebellar Ataxia Type 35.
Thirumurugesan SL et al.
Indian Journal of Pediatrics, 2022
A case report of late-onset cerebellar ataxia associated with a rare p.R342W TGM6 (SCA35) mutation.
Manini A et al.
Bmc Neurology, 2020
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