Zobrazeno 1 - 10
of 68
pro vyhledávání: '"V S, Sukhorukov"'
Publikováno v:
Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics). 67:99-107
Clinical observations of three cases of hypertrophic cardiomyopathy caused by mutations in the PRKAG2 gene with a debut in early childhood are presented. The sisters whose father suffered from a severe form of hypertrophic cardiomyopathy in combinati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a270c1e40737bd786bf209531c00acf1
https://doi.org/10.21508/1027-4065-2022-67-4-99-107
https://doi.org/10.21508/1027-4065-2022-67-4-99-107
Publikováno v:
Journal of Evolutionary Biochemistry and Physiology. 58:755-768
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::15455eb4836c6083b956a9bc4712a855
https://doi.org/10.1134/s0022093022030115
https://doi.org/10.1134/s0022093022030115
Publikováno v:
Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics). 67:108-111
Mitochondrial insufficiency does not always have vivid polysystemic manifestations that clinically reflect the dysfunction of these organelles. Diagnosis can be difficult both from a clinical and laboratory point of view. In this case, the authors de
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a1e2372608eae7cb1e245f628eb2c72e
https://doi.org/10.21508/1027-4065-2022-67-1-108-111
https://doi.org/10.21508/1027-4065-2022-67-1-108-111
Autor:
V. S. Sukhorukov, A. S. Voronkova, T. I. Baranich, A. A. Gofman, A. V. Brydun, L. A. Knyazeva, V. V. Glinkina
Publikováno v:
Molecular Biology. 56:59-71
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::85997c4a069400e18db49631baf69231
https://doi.org/10.1134/s0026893322010071
https://doi.org/10.1134/s0026893322010071
Autor:
T. I. Baranich, P. L. Anufriyev, A. A. Gofman, D. N. Voronkov, V. V. Glinkina, T. S. Gulevskaya, V. S. Sukhorukov
Publikováno v:
Human Physiology. 47:878-883
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9b4572d26143935f13c59ff1cb392b03
https://doi.org/10.1134/s0362119721080028
https://doi.org/10.1134/s0362119721080028
Publikováno v:
Neurochemical Journal. 15:203-210
—Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease with steadily progressing death of motor neurons in the brain and spinal cord. The disease is incurable and results in the patient’s death within 3–5 years on average. The mech
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::433775236d34ad1c46fdc7519c5687bb
https://doi.org/10.1134/s1819712421020070
https://doi.org/10.1134/s1819712421020070
Publikováno v:
Russian Journal of Genetics. 56:402-409
The present article reviews the rapidly growing body of research on the role of mitochondrial DNA (mtDNA) in the realization of individual risk of Parkinson’s disease. In this context, inherited mtDNA mutations, variants of its de novo polymorphism
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7ceb3b4035bc2077d8bed1f933ddf2b3
https://doi.org/10.1134/s1022795420040146
https://doi.org/10.1134/s1022795420040146
Autor:
E. A. Yurieva, V. V. Dlin, E. S. Vozdvizhenskaya, V. S. Sukhorukov, A. N. Semyachkina, M. N. Kharabadze
Publikováno v:
Rossijskij Vestnik Perinatologii i Pediatrii, Vol 65, Iss 1, Pp 71-76 (2020)
Nephropathy is a common associated pathology with hereditary connective tissue dysplasiaPurpose. To determine clinical and laboratory signs of renal pathology in the conditions of persisting hypoxic syndrome and anatomic abnormalities of the urinary
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa742353be5e71c63c3ae831b9f378c9
https://doi.org/10.21508/1027-4065-2020-65-1-71-76
https://doi.org/10.21508/1027-4065-2020-65-1-71-76
Publikováno v:
Rossijskij Vestnik Perinatologii i Pediatrii, Vol 64, Iss 5, Pp 84-90 (2019)
According to the literature, signs of mitochondrial dysfunction are found in 15–20% of children in the population. It often accompanies physical illness. The digestive tract is an energy-intensive system of organs, so violations of energy metabolis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2159e6825c5744e83820fd1112c7f673
https://www.ped-perinatology.ru/jour/article/view/973
https://www.ped-perinatology.ru/jour/article/view/973
Autor:
E. A. Yurieva, E. S. Vozdvizhenskaya, M. V. Kushnareva, A. N. Semyachkina, M. N. Kharabadze, V. S. Sukhorukov
Publikováno v:
Rossijskij Vestnik Perinatologii i Pediatrii, Vol 64, Iss 4, Pp 60-64 (2019)
Objective. To analyze the influence of clinical and biochemical markers on the diagnostic algorithm for hypoxic syndrome in children with genetic diseases of connective tissue.Characteristics of children and methods. There were examined 60 children w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b8d8988d891202130422739e4fc7f94
https://doi.org/10.21508/1027-4065-2019-64-4-60-64
https://doi.org/10.21508/1027-4065-2019-64-4-60-64