Marina Kurkina - Search Results

Year	Number of Results
2019	1
2020	1
2021	4
2022	3
2023	1
2024	0

1

Alkaptonuria in Russia: mutational spectrum and novel variants.

Bychkov I, Kamenets E, Kurkina M, Rychkov G, Ilyushkina A, Filatova A, Guseva D, Baydakova G, Nekrasov A, Cheblokov A, Skoblov M, Zakharova E. Bychkov I, et al. Among authors: kurkina m. Eur J Med Genet. 2021 Apr;64(4):104165. doi: 10.1016/j.ejmg.2021.104165. Epub 2021 Feb 20. Eur J Med Genet. 2021. PMID: 33621656

2

Mitochondrial peptide Mtln contributes to oxidative metabolism in mice.

Averina OA, Permyakov OA, Emelianova MA, Grigoryeva OO, Gulyaev MV, Pavlova OS, Mariasina SS, Frolova OY, Kurkina MV, Baydakova GV, Zakharova EY, Marey MV, Tsarev DA, Tashlitsky VN, Popov VS, Lovat ML, Polshakov VI, Vyssokikh MY, Sergiev PV. Averina OA, et al. Among authors: kurkina mv. Biochimie. 2023 Jan;204:136-139. doi: 10.1016/j.biochi.2022.09.009. Epub 2022 Sep 26. Biochimie. 2023. PMID: 36174793

3

Case Report: Next Generation Sequencing in Clinical Practice-A Real Tool for Ending the Protracted Diagnostic Odyssey.

Limonova AS, Ershova AI, Meshkov AN, Kiseleva AV, Divashuk MG, Kurkina MV, Drapkina OM. Limonova AS, et al. Among authors: kurkina mv. Front Cardiovasc Med. 2022 Jan 13;8:778961. doi: 10.3389/fcvm.2021.778961. eCollection 2021. Front Cardiovasc Med. 2022. PMID: 35096999 Free PMC article.

4

Functional Analysis of the PCCA and PCCB Gene Variants Predicted to Affect Splicing.

Bychkov I, Galushkin A, Filatova A, Nekrasov A, Kurkina M, Baydakova G, Ilyushkina A, Skoblov M, Zakharova E. Bychkov I, et al. Among authors: kurkina m. Int J Mol Sci. 2021 Apr 16;22(8):4154. doi: 10.3390/ijms22084154. Int J Mol Sci. 2021. PMID: 33923806 Free PMC article.

5

Hyperammonemia in Russia Due to Carbonic Anhydrase VA Deficiency Caused by Homozygous Mutation p.Lys185Lys (c.555G>A) of the CA5A Gene.

Semenova N, Marakhonov A, Ampleeva M, Kurkina M, Baydakova G, Skoblov M, Taran N, Babak O, Shchukina E, Strokova T. Semenova N, et al. Among authors: kurkina m. Int J Mol Sci. 2022 Nov 30;23(23):15026. doi: 10.3390/ijms232315026. Int J Mol Sci. 2022. PMID: 36499355 Free PMC article.

6

A novel mutation in the PEX26 gene in a family from Dagestan with members affected by Zellweger spectrum disorder.

Semenova NA, Kurkina MV, Marakhonov AV, Dadali EL, Taran NN, Strokova TV. Semenova NA, et al. Among authors: kurkina mv. Mol Genet Metab Rep. 2021 Apr 12;27:100754. doi: 10.1016/j.ymgmr.2021.100754. eCollection 2021 Jun. Mol Genet Metab Rep. 2021. PMID: 33912394 Free PMC article.

7

Plasma FGF-21 and GDF-15 are elevated in different inherited metabolic diseases and are not diagnostic for mitochondrial disorders.

Tsygankova PG, Itkis YS, Krylova TD, Kurkina MV, Bychkov IO, Ilyushkina AA, Zabnenkova VV, Mikhaylova SV, Pechatnikova NL, Sheremet NL, Zakharova EY. Tsygankova PG, et al. Among authors: kurkina mv. J Inherit Metab Dis. 2019 Sep;42(5):918-933. doi: 10.1002/jimd.12142. Epub 2019 Jul 24. J Inherit Metab Dis. 2019. PMID: 31260105

8

Molecular and biochemical study of glutaric aciduria type 1 in 49 Russian families: nine novel mutations in the GCDH gene.

Kurkina MV, Mihaylova SV, Baydakova GV, Saifullina EV, Korostelev SA, Pyankov DV, Kanivets IV, Yunin MA, Pechatnikova NL, Zakharova EY. Kurkina MV, et al. Metab Brain Dis. 2020 Aug;35(6):1009-1016. doi: 10.1007/s11011-020-00554-x. Epub 2020 Apr 2. Metab Brain Dis. 2020. PMID: 32240488

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