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
Electrophysiological findings in SH3TC2 neuropathy mimicking inflammatory neuropathies.
Frezatti RSS et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2025
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
Neuropathy due to bi-allelic SH3TC2 variants: genotype-phenotype correlation and natural history.
Rehbein T et al.
Brain : a Journal of Neurology, 2023
Identification of genetic alterations in couples and their products of conceptions from recurrent pregnancy loss in North Indian population.
Srivastava P et al.
Frontiers in Genetics, 2023
Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Sequencing Technologies.
Barbosa-Gouveia S et al.
Journal of Clinical Medicine, 2022
35628876 (PubMed )
Supplement: jcm-11-02750-s001.zip › jcm-1640664-supplementary.pdf
Charcot-Marie-Tooth Disease type 4C: Novel mutations, clinical presentations, and diagnostic challenges.
Jerath NU et al.
Muscle & Nerve, 2018
Molecular analysis of the genes causing recessive demyelinating Charcot-Marie-Tooth disease in Japan.
Hayashi M et al.
Journal of Human Genetics, 2013
Genetic Spectrum of Inherited Neuropathies in India.
Sharma S et al.
Annals of Indian Academy of Neurology, 0
Characterisation of Patients with SH3TC2 Associated Neuropathy in an Indian Cohort.
Nagappa M et al.
Neurology India, 0
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