Author

G. N. Seitova

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Open access Sep 2026

Clinical experience of treating 28 patients with Duchenne muscular dystrophy with the exon 45 skipping drug casimersen

Background. Duchenne muscular dystrophy (DMD) is an irreversible, progressive fatal genetic disorder caused by the absence of functional dystrophin protein in muscle due to mutations in the DMD gene. Exon-skipping therapy for DMD aims to increase the amount of functionally active protein dystrophin. Casimersen, a drug...

A. A. Agafonova, S. Artemyeva, D. Vlodavets et al. · Neuromuscular Diseases · 0 citations

Open access Jul 2026

A novel variant of NF1 gene in a patient with neurofibromatosis type 1: a case report

Wholegenome sequencing identified a new pathogenic variant in the NF1 gene associated with the development of neurofibromatosis type 1, which can be used in medical genetic counseling, as well as in algorithms for molecular genetic diagnostics of patients with suspected neurofibromatosis type 1.

I. Z. Zhalsanova, E. Fonova, D. N. Erburova et al. · Siberian journal of oncology · 0 citations