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Akademický článek

Pathophysiological features of the visual cycle, cascade and metabolic pathways in retinitis pigmentosa

Autor: M. E. Weener, D. S. Atarshchikov, V. V. Kadyshev, I. V. Zolnikova, A. M. Demchinsky, D. Barh, L. M. Balashova, J. M. Salmasi

Publikováno v: Российский офтальмологический журнал, Vol 14, Iss 1, Pp 80-88 (2021)

This literature review offers a detailed description of the genes and proteins involved in pathophysiological processes in isolated retinitis pigmentosa (RP). To date, 84 genes and 7 candidate genes have been described for non-syndromic RP. Each of t

Externí odkaz: https://doaj.org/article/859c3bbf08444417af37921d6045973e

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Akademický článek

Genetic testing of ocular manifestations of proliferative syndrome to provide pathophysiology-oriented treatment

Autor: M.E. Weener, N.A. Bakunina, J.M. Salmasi, G.V. Poryadin, D. Barh, Yu.D. Kuznetsova, L.M. Balashova

Publikováno v: РМЖ "Клиническая офтальмология", Vol 22, Iss 1 (2022)

M.E. Weener1, N.A. Bakunina2,3, J.M. Salmasi4, G.V. Poryadin4, D. Barh1, Yu.D. Kuznetsova2, L.M. Balashova2,4 1LLC "Oftalmic", Moscow, Russian Federation 2Non-profit partnership "International Scientific and Practical Center for the Proliferati

Externí odkaz: https://doaj.org/article/628f23d979884adf9edd7105d7bbfa39

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Akademický článek

Pathogenesis and clinical features of congenital stationary night blindness in case of c.283delC NYX gene mutation

Autor: M. E. Ivanova, K. V. Gorgisheli, I. V. Zolnikova, D. S. Atarshchikov, D. Barh, Zh. M. Salmasi, L. M. Balashova

Publikováno v: Российский офтальмологический журнал, Vol 12, Iss 3, Pp 77-84 (2019)

The complete form of X-linked congenital stationary night blindness (CSNB) is a rare genetic disease caused by a mutation in the NYX gene. CSNB is associated with the mutations taking place in 17 genes, whilst its CSNB1A form is caused by the mutatio

Externí odkaz: https://doaj.org/article/01aeb942b8a8469a9671f5327953e5ec

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Akademický článek

Case of phenotype of optic nerve atrophy due to mutation in С19orf12 gene (neurodegeneration with the brain iron accumulation (nbia))

Autor: M.E. Ivanova, V.V. Kadyshev, D.S. Atarshchikov, I.V. Zolnikova, N.P. Akchurina, N.K. Serova, F.A. Konovalov, E.R. Lozier, E.A. Pomerantseva, N.V. Vetrova, D. Barh, L.M. Balashova, J.M. Salmasi

Publikováno v: РМЖ "Клиническая офтальмология", Vol 20, Iss 1 (2020)

M.E. Ivanova1, V.V. Kadyshev2, D.S. Atarshchikov3, I.V. Zolnikova4, N.P. Akchurina4, N.K. Serova5, F.A. Konovalov6, E.R. Lozier6, E.A. Pomerantseva7, N.V. Vetrova7, D. Barh8, L.M. Balashova9, J.M. Salmasi10 1 LLC “Oftalmic”, Moscow, Russian Fe

Externí odkaz: https://doaj.org/article/ef25af0d1df74af28e7306ba9626c3cc

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Akademický článek

The study of interactome in Russian patients with Usher syndrome to select priority approaches in pathogenetically oriented treatment

Autor: M.E. Ivanova, D.S. Atarshchikov, A.M. Demchinsky, V.V. Strelnikov, D. Barh, G.V. Poryadin, L.M. Balashova, J.M. Salmasi

Publikováno v: РМЖ "Клиническая офтальмология", Vol 19, Iss 4 (2019)

M.E. Ivanova1, D.S. Atarshchikov2, A.M. Demchinsky3, V.V. Strelnikov4, D. Barh5, G.V. Poryadin6, L.M. Balashova7, J.M. Salmasi6 1LLC “Oftalmic”, Moscow, Russian Federation 2Central Clinical Hospital under Presidential Affairs, Moscow, Russi

Externí odkaz: https://doaj.org/article/a738941efab44ba793e0f44a8f141493

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