Publications by authors named "Yu V Maksimova"
[Experience of the treatment of spinal muscular atrophy type 3 Kugelberg-Welander with Nusinersen].
Zh Nevrol Psikhiatr Im S S Korsakova
April 2024
Article Synopsis
- Before pathogenetic therapy, a diagnosis of spinal muscular atrophy (SMA) meant a grim outlook with inevitable decline and early death for patients.
- New therapies like nusinersen and risdiplam, along with onasemnogene abeparvovec, are now available in Russia, offering hope for SMA patients.
- Nusinersen works by modifying the splicing of genes to boost the production of a crucial protein for motor neuron survival, and the article highlights a successful case of long-term treatment in a patient with SMA type 3.
To summarize an update on epidermolysis bullosa as a polymorphic group of inherited diseases with a failure of epidermal-dermal integrity. Emphasis is placed on the role of transmission electron microscopy in diagnosis and search directions for new types of the abnormality and its molecular markers. Despite numerous mutations in the genes encoding the components of desmosomes and epithelial basement membrane, the stereotyped manifestations of pathological processes in the group of epidermolysis bullosa have been identified.
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