Zobrazeno 1 - 10
of 30
pro vyhledávání: '"I. A. Kanivets"'
Autor:
O. B. Kondakova, A. P. Gudkova, S. V. Demyanov, Yu. I. Davydova, A. A. Lyalina, D. I. Grebenkin, E. A. Bakovich, I. V. Kanivets, D. S. Demyanov, I. S. Zhanin, A. A. Pushkov, K. V. Savostyanov
Publikováno v:
Нервно-мышечные болезни, Vol 14, Iss 2 (2024)
Zhu–Tokita–Takenouchi–Kim syndrome (ZTTK syndrome) is a rare autosomal dominant nuclear speckleopathy characterized by developmental delay, hypotonia, intellectual disability, facial dysmorphism in association with variable brain malformations,
Externí odkaz:
https://doaj.org/article/499cdba2decc4d8e80a4402bdf9d3597
Autor:
O. B. Kondakova, K. A. Kazakova, A. A. Lyalina, N. V. Lapshina, A. A. Pushkov, N. N. Mazanova, Yu. I. Davydova, D. I. Grebenkin, I. V. Kanivets, K. V. Savostyanov
Publikováno v:
Нервно-мышечные болезни, Vol 12, Iss 4, Pp 88-98 (2022)
Aromatic L‑amino acid decarboxylase (AADC) deficiency is rare autosomal recessive neurometabolic disorder. It caused by generalized combined deficiency of serotonin, dopamine, norepinephrine and adrenaline. This disorder is characterized by muscula
Externí odkaz:
https://doaj.org/article/1b2e33b95b524c4399b4bd0137c0ab06
Autor:
T. V. Kozhanova, S. S. Zhilina, T. I. Mescheryakova, M. Yu. Shorina, I. F. Demenshin, G. G. Prokopiev, I. V. Kanivets, V. S. Suchorukov, P. L. Anufriev, T. I. Baranich, A. A. Kozina, A. G. Prityko
Publikováno v:
Нервно-мышечные болезни, Vol 11, Iss 3, Pp 51-63 (2021)
Congenital muscular dystrophies are heterogeneous groups of neuromuscular diseases leading to hypotonia, progressive muscle weakness and dystrophic or structural signs in muscle biopsy. At the present time, 34 genes associated with congenital muscula
Externí odkaz:
https://doaj.org/article/01099aa7c969436698e9e63a4c653882
Autor:
S. V. Mikhailova, E. V. Saifullina, P. V. Baranova, V. P. Vorontsova, D. I. Gribov, M. V. Zhivihina, A. N. Slatetskaya, R. V. Magzhanov, V. A. Samokhvalov, M. N. Virtseva, L. P. Borscheva, E. E. Koh, M. V. Novikova, A. V. Abrukova, E. Yu. Belyashova, N. Yu. Gerasimenko, L. V. Guseva, Zh. V. Yukhimenko, N. V. Nikitina, T. I. Belyaeva, T. A. Shkurko, N. A. Pichkur, V. S. Kakaulina, N. L. Pechatnikova, N . A. Polyakova, S. A. Korostelev, D. V. Pyankov, I. V. Kanivets, N. A. Demina, E. Yu. Pyrkova, G. V. Baidakova, M. V. Kurkina, E. Yu. Zakharova
Publikováno v:
Нервно-мышечные болезни, Vol 11, Iss 2, Pp 61-79 (2021)
Background. Glutaric aciduria type 1 is an autosomal recessive disease caused by mutations in the GCDH gene, which encodes the enzyme glutaryl‑CoA dehydrogenase. Metabolic crisis in type 1 glutaric aciduria is an acute life‑threatening condition
Externí odkaz:
https://doaj.org/article/7260ea8a4de74abc9f7f0ad19298c84e
Clinical and genetic characteristics of distal arthrogryposis caused by mutations in the PIEZO2 gene
Autor:
T. V. Markova, E. L. Dadali, S. S. Nikitin, A. F . Murtazina, O. L. Mironovich, I. V. Kanivets
Publikováno v:
Нервно-мышечные болезни, Vol 11, Iss 2, Pp 48-55 (2021)
Mutations in the PIEZO2 gene, which is involved in the formation of the mechanosensitive cation channel Piezo2, can cause distal arthrogryposis type 3 (Gordon’s syndrome), type 5, and Marden–Walker syndrome. Clinical and genetic characteristics o
Externí odkaz:
https://doaj.org/article/7b02dadbbcc84e028d1b72a97d5240b0
Publikováno v:
Русский журнал детской неврологии, Vol 15, Iss 3-4, Pp 65-77 (2021)
The review provides an analysis of 73 full-text articles, the source of which was the Medline, OMIM, NCBI, Pubmed, Scopus, eLibrary.ru databases. The data of studies of the main pathogenetic mechanisms of the formation of the cerebral palsy (CP) phen
Externí odkaz:
https://doaj.org/article/e899d1a5f9844c90af3c5bd2be2a37f2
Publikováno v:
Акушерство, гинекология и репродукция, Vol 14, Iss 4, Pp 449-456 (2020)
Introduction. The prevalence of congenital malformations (CMFs) in fetal central nervous system (CNS) ranges from 1.5 to 3 % and covers around 29 % among all malformations, whereas percentage in the structure of perinatal and infant mortality reaches
Externí odkaz:
https://doaj.org/article/cc897afcbb624795967459569a5fc0cd
Autor:
M. E. Ivanova, I. V. Zolnikova, I. E. Khatsenko, V. V. Strelnikov, F. A. Konovalov, E. R. Lozier, M. A. Ampleeva, A. V. Antonets, I. V. Kanivets, K. V. Gorgisheli, D. S. Atarshchikov, D. V. Pyankov, S. A. Korostelev, E. B. Kuznetsova, D. Bar, L. M. Balashova, Zh. M. Salmasi
Publikováno v:
Российский офтальмологический журнал, Vol 13, Iss 1, Pp 12-22 (2020)
Achromatopsia (ACHM) is a rare autosomal recessive disease. Its mutation spectrum is well described in other populations, but the data on ACHM prevalence and features in Russia are insufficient. Purpose. To describe clinically and genetically the Rus
Externí odkaz:
https://doaj.org/article/92260456696c478c91e15c42a02ce1d3
Autor:
E. I. Dadali, I. A. Akimova, N. A. Semenova, D. M. Guseva, O. A. Shchagina, A. I. Chukhrova, I. V. Kanivets, S. A. Korostelev
Publikováno v:
Нервно-мышечные болезни, Vol 9, Iss 2, Pp 30-36 (2019)
Introduction. The description of the clinical and genetic characteristics of eight patients with autosomal-recessive variant pontocerebellar hypoplasia due to mutations in the TSEN54 gene.Purpose. Description of clinical and genetic characteristics o
Externí odkaz:
https://doaj.org/article/74daf8084a3245bfa34955016f2567f5
Publikováno v:
Acta Biomedica Scientifica, Vol 4, Iss 3, Pp 28-39 (2019)
Congenital spastic cerebral palsy (СР) is a large group of non-progressive disorders of the nervous system. The basis of the pathogenesis of these conditions is considered the impact of many factors. The clinical diversity of the disease and the sy
Externí odkaz:
https://doaj.org/article/5110dca89b914ef9b31ab3fb20ca6383