Zobrazeno 1 - 10
of 114
pro vyhledávání: '"I. A. Akimova"'
Autor:
E. L. Dadali, I. A. Akimova, F. A. Konovalov, P. A. Shatalov, A. Yu. Krasnenko, V. V. Strelnikov, M. A. Ampleeva
Publikováno v:
Русский журнал детской неврологии, Vol 14, Iss 3, Pp 28-36 (2020)
Early infantile epileptic encephalopathies (EIEE) are a group of disorders characterized by pharmacoresistant epileptic seizures manifesting in infancy and leading to psychomotor retardation. The most common genetic variant with X-linked dominant inh
Externí odkaz:
https://doaj.org/article/7d166f3ebe3242d7ac29da480525e283
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:
Русский журнал детской неврологии, Vol 14, Iss 1, Pp 49-53 (2019)
Gillespie syndrome is one of the rare monogenic syndromes characterized by a combination of congenital muscular hypotonia, delayed psychomotor and speech development, ataxia and hypoplasia of the iris. The cause of disease – homozygous, compound he
Externí odkaz:
https://doaj.org/article/5b3415033f114fb6abaf26405d530235
Publikováno v:
Нервно-мышечные болезни, Vol 8, Iss 3, Pp 28-33 (2018)
To date, a large number of monogenic diseases and syndromes, in the clinical picture of which there are convulsions, a psycho-speech development delay and dysmorphic features have been described. One of the hereditary syndromes with a specific phenot
Externí odkaz:
https://doaj.org/article/27d0a3ed3d884dbebf686fa654c42c8f
Publikováno v:
Нервно-мышечные болезни, Vol 8, Iss 2, Pp 59-67 (2018)
Background. Spinal muscle atrophies (SMA) are a group of diverse heterogenous diseases caused by mutations in several dozens of genes. A rare form of autosomal dominant SMA predominantly affects muscles of the lower extremities.The study objective is
Externí odkaz:
https://doaj.org/article/3cc2ac3d30264714aa16b849134501c6
Autor:
E. L. Dadali, F. A. Konovalov, I. A. Akimova, A. A. Sharkov, G. E. Rudenskaya, S. V. Mikhaylova, S. A. Korostelev
Publikováno v:
Нервно-мышечные болезни, Vol 8, Iss 2, Pp 42-52 (2018)
Background. A large number of single gene disorders with seizures in clinical picture has been described. Among them, a special place is held by early-onset epileptic encephalopathies (EEE) – a genetically diverse group of disorders characterized b
Externí odkaz:
https://doaj.org/article/487b6c1732b74dbb99f5b14660251b6b
Publikováno v:
Нервно-мышечные болезни, Vol 7, Iss 3, Pp 36-42 (2017)
One of the most common neurological symptoms in children of the first year of life is seizures, the etiology of which is manifold. Investigations in recent years have shown that a significant number of infantile seizures are hereditary in nature. The
Externí odkaz:
https://doaj.org/article/54ae22b441bc4a7799db21162fbe2bde
Publikováno v:
Русский журнал детской неврологии, Vol 11, Iss 2, Pp 33-41 (2016)
The authors provide a review of the clinical and genetic characteristics of hereditary diseases and syndromes accompanied by febrile convulsions, which is illustrated by examples of their own observations. The paper sets forth the possibilities and l
Externí odkaz:
https://doaj.org/article/0bc8a05143dd4211baa8d5a20ac0e9a5
Autor:
E. G. Tokmakova, N. F. Galatsevich, L. P. Bazanova, O. L. Balgan, A. S. Ponomareva, A. S. Ostyak, I. S. Akimova, S. V. Balakhonov
Publikováno v:
Проблемы особо опасных инфекций, Vol 0, Iss 1, Pp 168-175 (2024)
Entomoparasitic nematodes have a specific role to play in the persistence of Yersinia pestis in natural foci, however their natural microbial environment has not been studied.The aim of the study was to search for bacteria associated with nematodes p
Externí odkaz:
https://doaj.org/article/9eaf6762c6584d6dbd2edd1245800fa0
Autor:
E. G. Tokmakova, N. F. Galatsevich, L. P. Bazanova, N. I. Kovaleva, A. A. Chalbakai, I. S. Akimova
Publikováno v:
Проблемы особо опасных инфекций, Vol 0, Iss 4, Pp 96-101 (2023)
Entomoparasitic nematodes are supposed to be a link between parts of Yersinia pestis population in the environment and the flea vector. The aim of the study was to assess the prevalence and intensity of infestation in the fleas of the long-tailed sou
Externí odkaz:
https://doaj.org/article/f504b09359564150871efd4c49f288cd