Polyakov AV - Search Results

1

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.

2

Laminopathies in Russian families.

Rudenskaya GE, Polyakov AV, Tverskaya SM, Zaklyazminskaya EV, Chukhrova AL, Groznova OE, Ginter EK. Rudenskaya GE, et al. Among authors: polyakov av. Clin Genet. 2008 Aug;74(2):127-33. doi: 10.1111/j.1399-0004.2008.01045.x. Epub 2008 Jun 28. Clin Genet. 2008. PMID: 18564364

3

Hidden X chromosomal mosaicism in a 46,XX male.

Chernykh VB, Kurilo LF, Shilova NV, Zolotukhina TV, Ryzhkova OP, Bliznetz EA, Polyakov AV. Chernykh VB, et al. Among authors: polyakov av. Sex Dev. 2009;3(4):183-7. doi: 10.1159/000228718. Epub 2009 Sep 11. Sex Dev. 2009. PMID: 19752597

4

Spectrum of CFTR mutations in Chechen cystic fibrosis patients: high frequency of c.1545_1546delTA (p.Tyr515X; 1677delTA) and c.274G>A (p.Glu92Lys, E92K) mutations in North Caucasus.

Petrova NV, Kashirskaya NY, Saydaeva DK, Polyakov AV, Adyan TA, Simonova OI, Gorinova YV, Kondratyeva EI, Sherman VD, Novoselova OG, Vasilyeva TA, Marakhonov AV, Macek M Jr, Ginter EK, Zinchenko RA. Petrova NV, et al. Among authors: polyakov av. BMC Med Genet. 2019 Mar 21;20(1):44. doi: 10.1186/s12881-019-0785-z. BMC Med Genet. 2019. PMID: 30898088 Free PMC article.

5

A new case of infantile-onset hereditary spastic paraplegia with complicated phenotype (SPG61) in a consanguineous Russian family.

Chukhrova AL, Akimova IA, Shchagina OA, Kadnikova VA, Ryzhkova OP, Polyakov AV. Chukhrova AL, et al. Among authors: polyakov av. Eur J Neurol. 2019 May;26(5):e61-e62. doi: 10.1111/ene.13880. Eur J Neurol. 2019. PMID: 30980493 No abstract available.

6

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

7

Palmoplantar Keratoderma: A Molecular Genetic Analysis of Family Cases.

Shchagina O, Fedotov V, Markova T, Shatokhina O, Ryzhkova O, Fedotova T, Polyakov A. Shchagina O, et al. Int J Mol Sci. 2022 Aug 24;23(17):9576. doi: 10.3390/ijms23179576. Int J Mol Sci. 2022. PMID: 36076978 Free PMC article.

8

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.

9

Spectrum of Mutations in PTPN11 in Russian Cohort.

Orlova A, Guseva D, Demina N, Polyakov A, Ryzhkova O. Orlova A, et al. Genes (Basel). 2024 Mar 7;15(3):345. doi: 10.3390/genes15030345. Genes (Basel). 2024. PMID: 38540404 Free PMC article.

10

Genetic spectrum of sarcoglycanopathies in a cohort of Russian patients.

Bulakh M, Polyakova D, Dadali E, Rudenskaya G, Sharkova I, Markova T, Murtazina A, Demina N, Kurbatov S, Nikitina N, Udalova V, Polyakov A, Ryzhkova O. Bulakh M, et al. Gene. 2024 Nov 15;927:148680. doi: 10.1016/j.gene.2024.148680. Epub 2024 Jun 12. Gene. 2024. PMID: 38876406

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