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Identification of novel variants in the LDLR gene in Russian patients with familial hypercholesterolemia using targeted sequencing.
Miroshnikova VV, Romanova OV, Ivanova ON, Fedyakov MA, Panteleeva AA, Barbitoff YA, Muzalevskaya MV, Urazgildeeva SA, Gurevich VS, Urazov SP, Scherbak SG, Sarana AM, Semenova NA, Anisimova IV, Guseva DM, Pchelina SN, Glotov AS, Zakharova EY, Glotov OS. Miroshnikova VV, et al. Among authors: zakharova ey. Biomed Rep. 2021 Jan;14(1):15. doi: 10.3892/br.2020.1391. Epub 2020 Nov 17. Biomed Rep. 2021. PMID: 33269076 Free PMC article.
[Mutation del 1,02kb in the CLN3 gene and extrapyramidal syndrome].
Nuzhnyi EP, Yakimovskii AF, Timofeeva AA, Usenko TS, Nikolaev MA, Emelyanov AK, Amosov VI, Bubnova EV, Boukina AM, Zakharova EY, Pchelina SN. Nuzhnyi EP, et al. Among authors: zakharova ey. Zh Nevrol Psikhiatr Im S S Korsakova. 2016;116(8):50-53. doi: 10.17116/jnevro20161168150-53. Zh Nevrol Psikhiatr Im S S Korsakova. 2016. PMID: 27635612 Russian.
Ambroxol increases glucocerebrosidase (GCase) activity and restores GCase translocation in primary patient-derived macrophages in Gaucher disease and Parkinsonism.
Kopytova AE, Rychkov GN, Nikolaev MA, Baydakova GV, Cheblokov AA, Senkevich KA, Bogdanova DA, Bolshakova OI, Miliukhina IV, Bezrukikh VA, Salogub GN, Sarantseva SV, Usenko TC, Zakharova EY, Emelyanov AK, Pchelina SN. Kopytova AE, et al. Among authors: zakharova ey. Parkinsonism Relat Disord. 2021 Mar;84:112-121. doi: 10.1016/j.parkreldis.2021.02.003. Epub 2021 Feb 10. Parkinsonism Relat Disord. 2021. PMID: 33609962
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. 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
86 results