Author

P. Chausova

2 papers indexed here

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Review Open access Sep 2026

Independent coexistence of diseases in neurogenetics: case reports and literature review

Combined hereditary pathology (“double trouble”) in a patient and/or family, previously considered a rarity, is being identified increasingly often due to the development of modern genetic diagnostic methods. We describe 13 patients from 12 families with two hereditary diseases of the nervous system, verified by DNA an...

G. Rudenskaya, A. Kuchina, E. Melnik et al. · Neuromuscular Diseases · 0 citations

Open access Sep 2026

Clinical, genetic, and instrumental features of congenital myasthenic syndrome type 11

Background. Congenital myasthenic syndrome (CMS) type 11, caused by pathogenic biallelic variants in the RAPSN gene, is one of the most common forms of CMS in patients of European origin. The disease is characterized by significant clinical heterogeneity, which, combined with the variability of electrophysiological fin...

E. Melnik, S. N. Bardakov, S. Nikitin et al. · Neuromuscular Diseases · 0 citations