Zobrazeno 1 - 10
of 10
pro vyhledávání: '"O. B. Kondakova"'
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, S. V. Demyanov, A. V. Krasivskaya, G. V. Demyanov, D. I. Grebenkin, Yu. I. Davydova, A. A. Lyalina, E. R. Radkevich, K. V. Savostyanov
Publikováno v:
Нервно-мышечные болезни, Vol 13, Iss 1, Pp 22-32 (2023)
Huntington’s disease is a serious inherited neurodegenerative disorder characterized by of motor, cognitive and psychiatric features. The disease is caused by an abnormally expanded CAG repeat expansion in the HTT gene and the production of mutant
Externí odkaz:
https://doaj.org/article/6874b228b8cf48988e0bf0c03517c119
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:
V. A. Strelnikova, A. G. Tsverava, D. Yu. Ovsyannikov, E. K. Zhekaite, O. B. Kondakova, P. V. Berejansky, K. V. Savostyanov, V. V. Gorev, M. I. Airapetyan, O. G. Topilin
Publikováno v:
PULMONOLOGIYA. 33:259-265
Primary ciliary dyskinesia (PCD) is an orphan disease associated with mutations in several genes. It is a ciliopathy, an abnormality of the cilia and flagella. Ciliopathies include the extremely rare Simpson - Golabi - Bemel syndrome (SSGB) type II.T
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bc44c962c4dad5cfcc59f6b4ed233c0a
https://doi.org/10.18093/0869-0189-2023-33-2-259-265
https://doi.org/10.18093/0869-0189-2023-33-2-259-265
Autor:
L. A. Gandaeva, E. N. Basargina, O. B. Kondakova, V. G. Kaverina, A. A. Pushkov, O. P. Zharova, P. P. Fisenko, K. V. Savostyanov
Publikováno v:
Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics). 67:120-126
The few foreign papers of the last decade have shown the relationship of various pathogenic variants of the ELAC2 gene to heterogeneous phenotypic manifestations, for which the unfavorable prognosis is common, caused by severe cardiomyopathy in the f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e10ed4c4d282a26eb4260f5fe080c457
https://doi.org/10.21508/1027-4065-2022-67-4-120-126
https://doi.org/10.21508/1027-4065-2022-67-4-120-126
Autor:
L. A. Gandaeva, O. B. Kondakova, E. N. Basargina, A. A. Pushkov, N. N. Koloskova, O. P. Zharova, V. I. Barsky, A. P. Fisenko, K. V. Savostyanov
Publikováno v:
Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics). 67:132-141
PRKAG2 syndrome is a rare genetic disease that isinherited in an autosomal dominant fashion and is caused by mutationsin the PRKAG2 gene. Clinical symptoms include early onset, ventricular preexcitation, cardiac hypertrophy, and progressive atriovent
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4f9ca5ea02ed85e7df01861bdf253fe0
https://doi.org/10.21508/1027-4065-2022-67-2-132-141
https://doi.org/10.21508/1027-4065-2022-67-2-132-141
Publikováno v:
Russian Pediatric Journal. 24:112-121
Dystonia is a motor disorder characterized by sustained muscle contractions producing twisting, repetitive, and patterned movements or abnormal postures. Dystonia is among the most commonly observed motor disorders in clinical practice in children. U
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::48ff4ecc16b3690c80417bed80c106b9
https://doi.org/10.46563/1560-9561-2021-24-2-112-121
https://doi.org/10.46563/1560-9561-2021-24-2-112-121
Autor:
I. Yu. Ozhegova, A. Yu. Asanov, O. N. Voskresenskaya, D. S. Razheva, O. B. Kondakova, E. A. Nikolaeva
Publikováno v:
Rossijskij Vestnik Perinatologii i Pediatrii, Vol 65, Iss 4, Pp 128-133 (2020)
The article presents the results of long-term dynamics of the clinical and radiological picture of a child with a rare neurodegenerative disease — hypomyelinating leukodystrophy, type 6 (hypomyelinating leukodystrophy with atrophy of the basal gang
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e9d72fe6c332c8ec99bee2507cf507bb
https://www.ped-perinatology.ru/jour/article/view/1211
https://www.ped-perinatology.ru/jour/article/view/1211
Autor:
L. G., KHACHATRYAN, A. A., LYALINA, O. B., KONDAKOVA, V. M., TRIPELETS, E. N., TYURINA, M. D., VELIKORETSKAYA, D. E., AREYAN
Publikováno v:
New Armenian Medical Journal; Sep2020, Vol. 14 Issue 3, p80-87, 8p
Autor:
V. M., TRIPELETS, N. L. G., KHACHATRYA, O. V., BYKOVA, O. B., KONDAKOVA, E. N., TYURINA, L. S., STAROSTINA, E. V., KASANAVE, D. E., AREYAN
Publikováno v:
New Armenian Medical Journal; Sep2020, Vol. 14 Issue 3, p66-72, 7p