Zobrazeno 1 - 10
of 1 849
pro vyhledávání: '"A. V. POLYAKOV"'
Publikováno v:
Нервно-мышечные болезни, Vol 14, Iss 3, Pp 12-23 (2024)
Background. Duchenne muscular dystrophy (DMD) is the most common form of muscular dystrophy in children, that occurs between one and three years of age. DMD is caused by pathogenic and likely pathogenic variants in the DMD gene, which lead to a defic
Externí odkaz:
https://doaj.org/article/2ae0308147c14e91b799735f4891b7f3
Publikováno v:
Нервно-мышечные болезни, Vol 14, Iss 3, Pp 54-71 (2024)
Background. Existing registries of patients with spinal muscular atrophy (SMA) 5q serve as a valuable source of information on identified patients. Information on the characteristics of Russian patients with SMA 5q and the therapy administered in rea
Externí odkaz:
https://doaj.org/article/f22bd7c8dedc45298c061ad811205220
Publikováno v:
Вестник Самарского университета: Аэрокосмическая техника, технологии и машиностроение, Vol 23, Iss 1, Pp 203-215 (2024)
The article presents the results of a study of the elemental composition, surface morphology, optical and electronic properties of Mg2Si thin films formed on Si (111). Both samples containing films were formed in layers by the method of reactive epit
Externí odkaz:
https://doaj.org/article/ac27a3fbb45a40489c55184a80284340
Autor:
V. V. Neroev, L. A. Katargina, M. P. Kharlampidi, L. V. Kogoleva, I. V. Zolnikova, P. A. Ilyukhin, E. V. Denisova, S. V. Milash, N. A. Osipova, S. I. Kutsev, A. V. Polyakov, R. A. Zinchenko, V. V. Kadyshev, Yu. A. Bobrovskaya
Publikováno v:
Российский офтальмологический журнал, Vol 16, Iss 4, Pp 50-62 (2023)
Purpose: to evaluate the results of gene therapy by the recombinant adeno-associated viral vector voretigene neparvovec (VN) in children with follow-up periods of 1, 3, 6, and 12 months.Material and methods. The study included 6 children (12 eyes) ag
Externí odkaz:
https://doaj.org/article/ad919c19fbe440018fc9394a33c70d4f
Publikováno v:
Вавиловский журнал генетики и селекции, Vol 27, Iss 6, Pp 676-683 (2023)
Ectodermal dysplasia (ED) is a heterogeneous group of hereditary diseases of the skin and its appendages, which are characterized by impaired development and/or homeostasis of two or more ectoderm derivatives, including: hair, teeth, nails, sweat gla
Externí odkaz:
https://doaj.org/article/d1889b7f6cc24aa08f6e48c741587a1f
Socioeconomic efficiency of neonatal screening for spinal muscular atrophy in the Russian Federation
Autor:
I. A. Komarov, A. R. Malakhova, T. P. Vasilyeva, E. Yu. Shukan, O. Yu. Aleksandrova, R. A. Zinchenko, A. V. Polyakov, S. S. Nikitin, E. Yu. Sapego, S. I. Kutsev
Publikováno v:
Нервно-мышечные болезни, Vol 13, Iss 3, Pp 25-32 (2023)
Background. Spinal muscular atrophy (SMA) is a severe rare disease that has been widely discussed in recent years. Achievements in etiopathogenetic therapy and the social significance of the disease (child population, high mortality), the cost of tre
Externí odkaz:
https://doaj.org/article/1b9e0bb6569d4e68b8989b6d8afb56c6
Publikováno v:
Нервно-мышечные болезни, Vol 13, Iss 2, Pp 31-41 (2023)
Rubinstein–Taybi syndrome is a multisystem pathology characterized by mental retardation and delayed physical development in combination with a set of phenotypic features, which make up a recognizable pattern of the disease. This review of the lite
Externí odkaz:
https://doaj.org/article/4ec1f0896f2048ebb2128dc673ef9673
Autor:
T. A. Gremyakova, S. B. Artemyeva, E. N. Baybarina, N. D. Vashakmadze, V. I. Guzeva, E. V. Gusakova, L. M. Kuzenkova, A. E. Lavrova, O. A. Lvova, S. V. Mikhaylova, L. P. Nazarenko, S. S. Nikitin, A. V. Polyakov, E. L. Dadali, A. G. Rumyantsev, G. E. Sakbaeva, V. M. Suslov, O. I. Gremyakova, A. A. Stepanov, N. I. Shakhovskaya
Publikováno v:
Нервно-мышечные болезни, Vol 13, Iss 2, Pp 10-19 (2023)
Duchenne muscular dystrophy is a genetic orphan neuromuscular disease caused by a mutation in the DMD gene encoding the protein dystrophin. As a result of developing and progressive muscle damage and atrophy, children lose the ability to walk, develo
Externí odkaz:
https://doaj.org/article/4f23ad2f44564dcc8bb335b99bdacb0e
Publikováno v:
Нервно-мышечные болезни, Vol 13, Iss 4 (2024)
Proximal spinal muscular atrophy 5q (SMA 5q) is a severe autosomal recessive neuromuscular disease characterized by progressive symptoms of flaccid paralysis and muscular atrophy due to degeneration of α-motor neurons of the anterior horns of the sp
Externí odkaz:
https://doaj.org/article/b350603661d2451dbd4fbf021280a464
Publikováno v:
Нервно-мышечные болезни, Vol 13, Iss 1, Pp 33-43 (2023)
Background. Duchenne muscular dystrophy (DMD) is a severe, progressive form of muscular dystrophy that occurs in children between one and three years of age. The disease is mainly characterized by weakness of the proximal muscles, which leads to diff
Externí odkaz:
https://doaj.org/article/23b0a1813d344a8d9069c231e29a5a2c