Polyakov AV - Search Results

1

BH4-deficient hyperphenylalaninemia in Russia.

Gundorova P, Kuznetcova IA, Baydakova GV, Stepanova AA, Itkis YS, Kakaulina VS, Alferova IP, Lyazina LV, Andreeva LP, Kanivets I, Zakharova EY, Kutsev SI, Polyakov AV. Gundorova P, et al. Among authors: polyakov av. PLoS One. 2021 Apr 6;16(4):e0249608. doi: 10.1371/journal.pone.0249608. eCollection 2021. PLoS One. 2021. PMID: 33822819 Free PMC article.

2

Molecular-genetic causes for the high frequency of phenylketonuria in the population from the North Caucasus.

Gundorova P, Zinchenko RA, Kuznetsova IA, Bliznetz EA, Stepanova AA, Polyakov AV. Gundorova P, et al. Among authors: polyakov av. PLoS One. 2018 Aug 1;13(8):e0201489. doi: 10.1371/journal.pone.0201489. eCollection 2018. PLoS One. 2018. PMID: 30067850 Free PMC article.

3

Genotypes of 2579 patients with phenylketonuria reveal a high rate of BH4 non-responders in Russia.

Gundorova P, Stepanova AA, Kuznetsova IA, Kutsev SI, Polyakov AV. Gundorova P, et al. Among authors: polyakov av. PLoS One. 2019 Jan 22;14(1):e0211048. doi: 10.1371/journal.pone.0211048. eCollection 2019. PLoS One. 2019. PMID: 30668579 Free PMC article.

4

The study of the full spectrum of variants leading to hyperphenylalaninemia have revealed 10 new variants in the PAH gene.

Kuznetcova I, Gundorova P, Ryzhkova O, Polyakov A. Kuznetcova I, et al. Metab Brain Dis. 2019 Dec;34(6):1547-1555. doi: 10.1007/s11011-019-00461-w. Epub 2019 Jul 22. Metab Brain Dis. 2019. PMID: 31332730

5

Specificities of the DMD Gene Mutation Spectrum in Russian Patients.

Zinina E, Bulakh M, Chukhrova A, Ryzhkova O, Sparber P, Shchagina O, Polyakov A, Kutsev S. Zinina E, et al. Int J Mol Sci. 2022 Oct 22;23(21):12710. doi: 10.3390/ijms232112710. Int J Mol Sci. 2022. PMID: 36361501 Free PMC article.

6

Functional Characterization of Two Novel Intron 4 SERPING1 Gene Splice Site Pathogenic Variants in Families with Hereditary Angioedema.

Shchagina O, Gracheva E, Chukhrova A, Bliznets E, Bychkov I, Kutsev S, Polyakov A. Shchagina O, et al. Biomedicines. 2023 Dec 28;12(1):72. doi: 10.3390/biomedicines12010072. Biomedicines. 2023. PMID: 38255179 Free PMC article.

7

Genetic Landscape of SH3TC2 variants in Russian patients with Charcot-Marie-Tooth disease.

Shchagina O, Murtazina A, Chausova P, Orlova M, Dadali E, Kurbatov S, Kutsev S, Polyakov A. Shchagina O, et al. Front Genet. 2024 Jun 6;15:1381915. doi: 10.3389/fgene.2024.1381915. eCollection 2024. Front Genet. 2024. PMID: 38903759 Free PMC article.

8

Rare Variants of the SMN1 Gene Detected during Neonatal Screening.

Akhkiamova M, Polyakov A, Marakhonov A, Voronin S, Saifullina E, Vafina Z, Michalchuk K, Braslavskaya S, Chukhrova A, Ryadninskaya N, Kutsev S, Shchagina O. Akhkiamova M, et al. Genes (Basel). 2024 Jul 21;15(7):956. doi: 10.3390/genes15070956. Genes (Basel). 2024. PMID: 39062735 Free PMC article.

9

Common Variants in the TYR Gene with Unclear Pathogenicity as the Cause of Oculocutaneous Albinism in a Cohort of Russian Patients.

Shchagina O, Stepanova A, Mishakova P, Kadyshev V, Demina N, Bessonova L, Ionova S, Guseva D, Marakhonov A, Zinchenko R, Kutsev S, Polyakov A. Shchagina O, et al. Biomedicines. 2024 Oct 1;12(10):2234. doi: 10.3390/biomedicines12102234. Biomedicines. 2024. PMID: 39457547 Free PMC article.

10

KIF1A-related autosomal dominant spastic paraplegias (SPG30) in Russian families.

Rudenskaya GE, Kadnikova VA, Ryzhkova OP, Bessonova LA, Dadali EL, Guseva DS, Markova TV, Khmelkova DN, Polyakov AV. Rudenskaya GE, et al. Among authors: polyakov av. BMC Neurol. 2020 Aug 3;20(1):290. doi: 10.1186/s12883-020-01872-4. BMC Neurol. 2020. PMID: 32746806 Free PMC article.

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