Zakharova E - Search Results

1

Generation of induced pluripotent stem cell line (RCMGi012-A) from fibroblasts of patient with mucopolysaccharidosis type VI.

Kondrateva E, Grigorieva O, Panchuk I, Bychkov I, Zakharova E, Tabakov V, Pozhitnova V, Voronina E, Shchagina O, Lavrov A, Smirnikhina S, Kutsev S. Kondrateva E, et al. Among authors: zakharova e. Stem Cell Res. 2023 Dec;73:103259. doi: 10.1016/j.scr.2023.103259. Epub 2023 Nov 22. Stem Cell Res. 2023. PMID: 38006675 Free article.

2

The Unique Spectrum of Mutations in Patients with Hereditary Tyrosinemia Type 1 in Different Regions of the Russian Federation.

Baydakova GV, Ivanova TA, Mikhaylova SV, Saydaeva DK, Dzhudinova LL, Akhlakova AI, Gamzatova AI, Bychkov IO, Zakharova EY. Baydakova GV, et al. Among authors: zakharova ey. JIMD Rep. 2019;45:89-93. doi: 10.1007/8904_2018_144. Epub 2018 Nov 11. JIMD Rep. 2019. PMID: 30414057 Free PMC article.

3

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. Mitochondrion. 2019 Jul;47:10-17. doi: 10.1016/j.mito.2019.04.004. Epub 2019 Apr 19. Mitochondrion. 2019. PMID: 31009750

4

The novel synonymous variant in LIPA gene affects splicing and causes lysosomal acid lipase deficiency.

Bychkov IO, Kamenets EA, Filatova AY, Skoblov MY, Mikhaylova SV, Strokova TV, Gundobina OS, Zakharova EY. Bychkov IO, et al. Among authors: zakharova ey. Mol Genet Metab. 2019 Jul;127(3):212-215. doi: 10.1016/j.ymgme.2019.06.005. Epub 2019 Jun 15. Mol Genet Metab. 2019. PMID: 31230978

5

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. 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

6

Three rare pathogenic mtDNA substitutions in LHON patients with low heteroplasmy.

Krylova TD, Sheremet NL, Tabakov VY, Lyamzaev KG, Itkis YS, Tsygankova PG, Andreeva NA, Shmelkova MS, Nevinitsyna TA, Kadyshev VV, Zakharova EY. Krylova TD, et al. Mitochondrion. 2020 Jan;50:139-144. doi: 10.1016/j.mito.2019.10.002. Epub 2019 Oct 26. Mitochondrion. 2020. PMID: 31669237

7

α-Galactosidase A/lysoGb3 ratio as a potential marker for Fabry disease in females.

Baydakova GV, Ilyushkina AA, Moiseev S, Bychkov IO, Nikitina NV, Buruleva ТА, Zakharova EY. Baydakova GV, et al. Among authors: zakharova ey. Clin Chim Acta. 2020 Feb;501:27-32. doi: 10.1016/j.cca.2019.10.031. Epub 2019 Nov 23. Clin Chim Acta. 2020. PMID: 31770509

8

Elevated LysoGb3 Concentration in the Neuronopathic Forms of Mucopolysaccharidoses.

Baydakova G, Ilyushkina A, Gaffke L, Pierzynowska K, Bychkov I, Ługowska A, Wegrzyn G, Tylki-Szymanska A, Zakharova E. Baydakova G, et al. Among authors: zakharova e. Diagnostics (Basel). 2020 Mar 13;10(3):155. doi: 10.3390/diagnostics10030155. Diagnostics (Basel). 2020. PMID: 32183018 Free PMC article.

9

POLG-associated ataxias can represent a substantial part of recessive and sporadic ataxias in adults.

Nuzhnyi E, Seliverstov Y, Klyushnikov S, Krylova T, Tsygankova P, Bychkov I, Zakharova E, Konovalov R, Fedin P, Abramycheva N, Illarioshkin S. Nuzhnyi E, et al. Among authors: zakharova e. Clin Neurol Neurosurg. 2021 Feb;201:106462. doi: 10.1016/j.clineuro.2020.106462. Epub 2021 Jan 7. Clin Neurol Neurosurg. 2021. PMID: 33434755

10

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: zakharova e. 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

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

471 results

Search Page