Pechatnikova NL - Search Results

1

A novel variant m.641A>T in the mitochondrial MT-TF gene is associated with epileptic encephalopathy in adolescent.

Itkis Y, Krylova T, Pechatnikova NL, De Grassi A, Tabakov VY, Pierri CL, Aleshin V, Boyko A, Bunik VI, Zakharova EY. Itkis Y, et al. Among authors: pechatnikova nl. Mitochondrion. 2019 Jul;47:10-17. doi: 10.1016/j.mito.2019.04.004. Epub 2019 Apr 19. Mitochondrion. 2019. PMID: 31009750

2

Mitochondrial DNA maintenance disorders in 102 patients from different parts of Russia: Mutational spectrum and phenotypes.

Bychkov IO, Itkis YS, Tsygankova PG, Krylova TD, Mikhaylova SV, Klyushnikov SA, Pechatnikova NL, Degtyareva AV, Nikolaeva EA, Seliverstov YA, Kurbatov SA, Dadali EL, Rudenskaya GE, Illarioshkin SN, Zakharova EY. Bychkov IO, et al. Among authors: pechatnikova nl. Mitochondrion. 2021 Mar;57:205-212. doi: 10.1016/j.mito.2021.01.004. Epub 2021 Jan 21. Mitochondrion. 2021. PMID: 33486010

3

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: pechatnikova nl. 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

4

Expanding the genetic spectrum of the pyruvate carboxylase deficiency with novel missense, deep intronic and structural variants.

Tsygankova P, Bychkov I, Minzhenkova M, Pechatnikova N, Bessonova L, Buyanova G, Naumchik I, Beskorovainiy N, Tabakov V, Itkis Y, Shilova N, Zakharova E. Tsygankova P, et al. Mol Genet Metab Rep. 2022 Jun 23;32:100889. doi: 10.1016/j.ymgmr.2022.100889. eCollection 2022 Sep. Mol Genet Metab Rep. 2022. PMID: 35782291 Free PMC article.

5

Next Generation Sequencing of 134 Children with Autism Spectrum Disorder and Regression.

Yin J, Chun CA, Zavadenko NN, Pechatnikova NL, Naumova OY, Doddapaneni HV, Hu J, Muzny DM, Schaaf CP, Grigorenko EL. Yin J, et al. Among authors: pechatnikova nl. Genes (Basel). 2020 Jul 25;11(8):853. doi: 10.3390/genes11080853. Genes (Basel). 2020. PMID: 32722525 Free PMC article.

6

New Acylcarnitine Ratio as a Reliable Indicator of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency.

Baydakova GV, Tsygankova PG, Pechatnikova NL, Bazhanova OA, Nazarenko YD, Zakharova EY. Baydakova GV, et al. Among authors: pechatnikova nl. Int J Neonatal Screen. 2023 Aug 25;9(3):48. doi: 10.3390/ijns9030048. Int J Neonatal Screen. 2023. PMID: 37754774 Free PMC article.

7

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. Among authors: pechatnikova nl. 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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