Polina Sokolnikova
Overview
Explore the profile of Polina Sokolnikova including associated specialties, affiliations and a list of published articles.
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10
Citations
15
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0
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Recent Articles
1.
Tsoy U, Pogosian K, Ryzhkova D, Yudina O, Yakovenko K, Ryazanov P, et al.
Diagnostics (Basel)
. 2024 Dec;
14(23).
PMID: 39682626
Background: Parathyroid tumors are classified as parathyroid neuroendocrine neoplasia (NEN) by the IARC-WHO classification. These tumors can occur with NENs from other sites, which often require total-body [68Ga]-DOTA-peptides PET/CT. This...
2.
Septal Myectomy in Patients with Hypertrophic Cardiomyopathy and Nonclassical Anderson-Fabry Disease
Gurschenkov A, Andreeva S, Zaitsev V, Khazov P, Ischmukhametov G, Kozyreva A, et al.
J Cardiovasc Dev Dis
. 2024 Sep;
11(9).
PMID: 39330351
Anderson-Fabry disease (AFD) results from decreased enzyme activity of lysosomal enzymes and intralysosomal storage of nonhydrolyzed forms. Cardiovascular complications, mainly in the form of HCM, contribute substantially to AFD patient...
3.
Zlotina A, Barashkova S, Zhuk S, Skitchenko R, Usoltsev D, Sokolnikova P, et al.
Orphanet J Rare Dis
. 2024 Aug;
19(1):310.
PMID: 39180133
Background: Primary ciliary dyskinesia (PCD) is a group of rare genetically heterogeneous disorders caused by defective cilia and flagella motility. The clinical phenotype of PCD patients commonly includes chronic oto-sino-pulmonary...
4.
Lesnyak O, Marini F, Sokolnikova P, Sorokina M, Sukhareva K, Artamonova I, et al.
Bone Rep
. 2024 Jul;
21:101777.
PMID: 38952406
We report a case of a patient with a germline heterozygous truncating variant of gene (c.2172del, p.Tyr724Ter) causing neurodevelopmental disorder with spastic diplegia and visual defects syndrome (NEDSDV) associated with...
5.
Kofeynikova O, Alekseeva D, Vershinina T, Fetisova S, Peregudina O, Kovalchuk T, et al.
Front Cardiovasc Med
. 2023 Oct;
10:1216976.
PMID: 37781308
Introduction: The present study aimed to describe the phenotypic features and genetic spectrum of arrhythmogenic cardiomyopathy (ACM) presented in childhood and test the validity of different diagnostic approaches using Task...
6.
Andreeva S, Chumakova O, Karelkina E, Lebedeva V, Lubimtseva T, Semenov A, et al.
Front Genet
. 2022 Mar;
13:743472.
PMID: 35273634
Hypertrophic cardiomyopathy (HCM) is one of the most common hereditary diseases, and it is associated with fatal complications. The clinical heterogeneity of HCM requires risk prediction models to identify patients...
7.
Rodina N, Khudiakov A, Perepelina K, Muravyev A, Boytsov A, Zlotina A, et al.
Stem Cell Res
. 2021 Dec;
59:102640.
PMID: 34971933
Human iPSC cell line FAMRCi009-A was generated from a patient with restrictive cardiomyopathy and congenital myopathy carrying FLNC p.Val2264Met genetic variant. Patient-specific peripheral blood mononuclear cells were reprogrammed using non-integrative...
8.
Perepelina K, Khudiakov A, Rodina N, Boytsov A, Vavilova T, Zlotina A, et al.
Stem Cell Res
. 2021 Dec;
59:102639.
PMID: 34971931
Human iPSC cell line FAMRCi010-A was generated from a patient with restrictive cardiomyopathy carrying FLNC p.Gly2011Arg genetic variant. Patient-specific peripheral blood mononuclear cells were reprogrammed using non-integrative Sendai viruses containing...
9.
Kovalchuk T, Yakovleva E, Fetisova S, Vershinina T, Lebedeva V, Lyubimtseva T, et al.
Front Cardiovasc Med
. 2021 May;
8:668231.
PMID: 34026875
Emery-Dreifuss muscular dystrophy (EDMD) is inherited muscle dystrophy often accompanied by cardiac abnormalities in the form of supraventricular arrhythmias, conduction defects and sinus node dysfunction. Cardiac phenotype typically arises years...
10.
Vakhrushev Y, Kozyreva A, Semenov A, Sokolnikova P, Lubimtseva T, Lebedev D, et al.
Genes (Basel)
. 2021 Jan;
12(1).
PMID: 33450993
(RNA-binding motif protein 20) is a splicing factor targeting multiple cardiac genes, and its mutations cause cardiomyopathies. Originally, mutations were discovered to cause the development of dilated cardiomyopathy by erroneous...