Mikhailova S - Search Results

1

Leigh Syndrome: Spectrum of Molecular Defects and Clinical Features in Russia.

Kistol D, Tsygankova P, Krylova T, Bychkov I, Itkis Y, Nikolaeva E, Mikhailova S, Sumina M, Pechatnikova N, Kurbatov S, Bostanova F, Migiaev O, Zakharova E. Kistol D, et al. Among authors: mikhailova s. Int J Mol Sci. 2023 Jan 13;24(2):1597. doi: 10.3390/ijms24021597. Int J Mol Sci. 2023. PMID: 36675121 Free PMC article.

2

[HFE gene polymorphism in the population of Northern Asia].

Mikhaĭlova SV, Romashchenko AG, Babenko VN, Gubina MA, Soboleva DE, Kobzev VF, Voevoda MI. Mikhaĭlova SV, et al. Vestn Ross Akad Med Nauk. 2011;(9):44-8. Vestn Ross Akad Med Nauk. 2011. PMID: 22145371 Russian.

3

[Syndrome Leigh caused by mutations in the SURF1 gene: clinical and molecular-genetic characteristics].

Tsygankova PG, Mikhaĭlova SV, Zakharova EIu, Pichkur NA, Il'ina ES, Nikolaeva EA, Rudenskaia GE, Dadali EL, Kolpakchi LM, Fedoniuk ID, Matiushchenko GN. Tsygankova PG, et al. Among authors: mikhailova sv. Zh Nevrol Psikhiatr Im S S Korsakova. 2010;110(1):25-32. Zh Nevrol Psikhiatr Im S S Korsakova. 2010. PMID: 20436434 Russian.

4

[Clinical and genetic special features of Niemann-Pick disease, type C].

Zakharova EIu, Mikhaĭlova SV, Proshliakova TIu, Rudenskaia GE. Zakharova EIu, et al. Among authors: mikhailova sv. Vestn Ross Akad Med Nauk. 2012;(12):60-5. Vestn Ross Akad Med Nauk. 2012. PMID: 23530428 Review. Russian.

5

Visceral symptoms as a key diagnostic sign for the early infantile form of Niemann-Pick disease type C in a Russian patient: a case report.

Degtyareva AV, Mikhailova SV, Zakharova EY, Tumanova EL, Puchkova AA. Degtyareva AV, et al. Among authors: mikhailova sv. J Med Case Rep. 2016 Jun 1;10(1):143. doi: 10.1186/s13256-016-0925-4. J Med Case Rep. 2016. PMID: 27250337 Free PMC article.

6

Neuronal ceroid lipofuscinosis in the Russian population: Two novel mutations and the prevalence of heterozygous carriers.

Kozina AA, Okuneva EG, Baryshnikova NV, Kondakova OB, Nikolaeva EA, Fedoniuk ID, Mikhailova SV, Krasnenko AY, Stetsenko IF, Plotnikov NA, Klimchuk OI, Popov YV, Surkova EI, Shatalov PA, Rakitko AS, Ilinsky VV. Kozina AA, et al. Among authors: mikhailova sv. Mol Genet Genomic Med. 2020 Jul;8(7):e1228. doi: 10.1002/mgg3.1228. Epub 2020 May 15. Mol Genet Genomic Med. 2020. PMID: 32412666 Free PMC article.

7

Retrospective analysis of 17 patients with mitochondrial membrane protein-associated neurodegeneration diagnosed in Russia.

Sparber P, Krylova T, Repina S, Demina N, Rudenskaya G, Sharkova I, Sharkov A, Kadyshev V, Kanivets I, Korostelev S, Pomerantseva E, Kaimonov V, Mikhailova S, Zakharova E, Skoblov M. Sparber P, et al. Among authors: mikhailova s. Parkinsonism Relat Disord. 2021 Mar;84:98-104. doi: 10.1016/j.parkreldis.2021.02.002. Epub 2021 Feb 9. Parkinsonism Relat Disord. 2021. PMID: 33607528

8

Screening of West Siberian patients with primary congenital glaucoma for CYP1B1 gene mutations.

Ivanoshchuk DE, Mikhailova SV, Fenkova OG, Shakhtshneider EV, Fursova AZ, Bychkov IY, Voevoda MI. Ivanoshchuk DE, et al. Among authors: mikhailova sv. Vavilovskii Zhurnal Genet Selektsii. 2020 Dec;24(8):861-867. doi: 10.18699/VJ20.684. Vavilovskii Zhurnal Genet Selektsii. 2020. PMID: 35087999 Free PMC article.

9

[Clinical and molecular genetic diagnosis of leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation in children].

Mikhaĭlova SV, Zakharova EIu, Banin AV, Demushkina AA, Petrukhin AS. Mikhaĭlova SV, et al. Zh Nevrol Psikhiatr Im S S Korsakova. 2009;109(9):16-22. Zh Nevrol Psikhiatr Im S S Korsakova. 2009. PMID: 19770827 Review. Russian.

10

Polymorphism of the GLIS3 gene in a Caucasian population and among individuals with carbohydrate metabolism disorders in Russia.

Shakhtshneider EV, Mikhailova SV, Ivanoshchuk DE, Orlov PS, Ovsyannikova AK, Rymar OD, Ragino YI, Voevoda MI. Shakhtshneider EV, et al. Among authors: mikhailova sv. BMC Res Notes. 2018 Apr 2;11(1):211. doi: 10.1186/s13104-018-3338-1. BMC Res Notes. 2018. PMID: 29606121 Free PMC article.

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