Zobrazeno 1 - 10
of 32
pro vyhledávání: '"K. V. Savostyanov"'
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:
K. V. Savostyanov, A. A. Pushkov, O. A. Shchagina, V. V. Maltseva, E. A. Suleymanov, I. S. Zhanin, N. N. Mazanova, A. P. Fisenko, P. S. Mishakova, A. V. Polyakov, E. V. Balanovska, R. A. Zinchenko, A. N. Tsygin
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Nephropathic cystinosis is a rare autosomal recessive disorder characterized by amino acid cystine accumulation and caused by biallelic mutations in the CTNS gene. The analysis methods are as follows: tandem mass spectrometry to determine the cystine
Externí odkaz:
https://doaj.org/article/667be221ddaa47f189eff65ee120c0c2
Autor:
K. V. Savostyanov, E. N. Basargina, E. E. Ryabova, A. A. Pushkov, I. S. Zhanin, E. Yu. Basargina, A. Yu. Alekseeva, L. V. Muraveva, L. A. Gandaeva, A. P. Fisenko
Publikováno v:
Российский кардиологический журнал, Vol 26, Iss 10 (2021)
Aim. To identify the proportion of restrictive cardiomyopathy (RCM), as well as cardiomyopathy (CMP) with a restrictive type of hemodynamics among all cases of genetic CMP and to determine the relative frequencies and spectrum of nucleotide variants
Externí odkaz:
https://doaj.org/article/83d6f74665aa4fc29cb15511717ae4a4
Autor:
G. B. Movsisyan, O. S. Gundobina, L. S. Namazova-Baranova, K. V. Savostyanov, A. N. Pushkov, V. V. Chernikov, N. N. Mazanova, A. M. Romanyuk, V. I. Smirnov
Publikováno v:
Педиатрическая фармакология, Vol 13, Iss 4, Pp 354-361 (2016)
Background: Registers are an effective tool for tracing the dynamics of patients with rare pathologies.Objective: Our aim was to examine the demographic, clinical and genetic features of child Gaucher disease patients in Russia.Methods: We held a ret
Externí odkaz:
https://doaj.org/article/4f7663cbfa9b4d1e93de620e0020bd42
Autor:
T. V. Sleptsova, E. I. Alexeeva, K. V. Savostyanov, A. A. Pushkov, T. M. Bzarova, K. B. Isaeva, R. V. Denisova
Publikováno v:
Педиатрическая фармакология, Vol 13, Iss 4, Pp 399-403 (2016)
The article presents an observation of one of the most common autoinflammatory syndromes — TRAPS (periodic syndrome associated with a mutation in the TNF α receptor gene). During a molecular-genetic examination of a 9-year-old child, a c.337_339de
Externí odkaz:
https://doaj.org/article/63fb2ce544ec452dbf94752420e34d2a
Autor:
A. A. Baranov, L. S. Namazova-Baranova, O. S. Gundobina, E. A. Lukina, A. K. Gevorkyan, K. V. Savostyanov, A. A. Pushkov, E. A. Vishnyova, G. B. Movsisyan
Publikováno v:
Педиатрическая фармакология, Vol 13, Iss 3, Pp 244-250 (2016)
The focus of this article is Gaucher disease — a rare enough hereditary pathology. The authors present the most up-to-date epidemiological data and features of Gaucher disease etiopathogenesis. They offer clinical characteristics for the various ty
Externí odkaz:
https://doaj.org/article/83d96af2192e4d659928b9f95e6ea423
Autor:
G. T. Yakhyaeva, L. S. Namazova-Baranova, T. V. Margieva, N. V. Zhurkova, A. A. Pushkov, K. V. Savostyanov
Publikováno v:
Вопросы современной педиатрии, Vol 15, Iss 2, Pp 175-179 (2016)
Frequent bone fractures in infancy require the elimination of a large number (> 100) of genetic disorders. The modern diagnostic method of hereditary diseases characterized by debilitating course is a new generation sequencing. The article presents t
Externí odkaz:
https://doaj.org/article/863f0d186f52413ea4673e29fbd3e81b
Publikováno v:
Вопросы современной педиатрии, Vol 14, Iss 6, Pp 724-731 (2016)
Leukoencephalopathy with predominant lesion of the brain stem, spinal cord and high blood lactate in the MR spectroscopy is a hereditary disease characterized by slowly progressing cerebellar, pyramidal disorders, disorders involving the lesion of po
Externí odkaz:
https://doaj.org/article/1732dacf7d79472fb4a4b0bc75e241dd