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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: nikolaeva ea. 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.
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: nikolaeva ea. Mitochondrion. 2021 Mar;57:205-212. doi: 10.1016/j.mito.2021.01.004. Epub 2021 Jan 21. Mitochondrion. 2021. PMID: 33486010
Case report: a rare case of Hunter syndrome (type II mucopolysaccharidosis) in a girl.
Semyachkina AN, Voskoboeva EY, Zakharova EY, Nikolaeva EA, Kanivets IV, Kolotii AD, Baydakova GV, Kharabadze MN, Kuramagomedova RG, Melnikova NV. Semyachkina AN, et al. Among authors: nikolaeva ea. BMC Med Genet. 2019 May 2;20(1):66. doi: 10.1186/s12881-019-0807-x. BMC Med Genet. 2019. PMID: 31046699 Free PMC article.
37 results