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Generation of two iPSC lines from healthy donor with a heterozygous mutation in the VPS13B gene.
Chechetkina SA, Khabarova AA, Chvileva AS, Kurchenko OM, Smirnov AV, Yunusova AM, Kotov IN, Musatova EV, Pomerantseva EA, Volovikov EA, Lagarkova MA, Shnaider TA, Pristyazhnyuk IE. Chechetkina SA, et al. Among authors: pomerantseva ea. Stem Cell Res. 2022 Mar;59:102648. doi: 10.1016/j.scr.2021.102648. Epub 2021 Dec 28. Stem Cell Res. 2022. PMID: 35026660 Free article.
Corrigendum to "Generation of two iPSC lines from healthy donor with a heterozygous mutation in the VPS13B gene" [59 (2022) 102648].
Chechetkina SA, Khabarova AA, Chvileva AS, Kurchenko OM, Smirnov AV, Yunusova AM, Kotov IN, Musatova EV, Pomerantseva EA, Volovikov EA, Lagarkova MA, Shnaider TA, Pristyazhnyuk IE. Chechetkina SA, et al. Among authors: pomerantseva ea. Stem Cell Res. 2022 Jul;62:102787. doi: 10.1016/j.scr.2022.102787. Epub 2022 Apr 21. Stem Cell Res. 2022. PMID: 35462156 Free article. No abstract available.
Ultrastructural Abnormalities in Induced Pluripotent Stem Cell-Derived Neural Stem Cells and Neurons of Two Cohen Syndrome Patients.
Shnaider TA, Khabarova AA, Morozova KN, Yunusova AM, Yakovleva SA, Chvileva AS, Wolf ER, Kiseleva EV, Grigor'eva EV, Voinova VY, Lagarkova MA, Pomerantseva EA, Musatova EV, Smirnov AV, Smirnova AV, Stoklitskaya DS, Arefieva TI, Larina DA, Nikitina TV, Pristyazhnyuk IE. Shnaider TA, et al. Among authors: pomerantseva ea. Cells. 2023 Nov 25;12(23):2702. doi: 10.3390/cells12232702. Cells. 2023. PMID: 38067130 Free PMC article.
Complex Transposon Insertion as a Novel Cause of Pompe Disease.
Bychkov I, Baydakova G, Filatova A, Migiaev O, Marakhonov A, Pechatnikova N, Pomerantseva E, Konovalov F, Ampleeva M, Kaimonov V, Skoblov M, Zakharova E. Bychkov I, et al. Int J Mol Sci. 2021 Oct 8;22(19):10887. doi: 10.3390/ijms221910887. Int J Mol Sci. 2021. PMID: 34639227 Free PMC article.
Complex Multisystem Phenotype With Immunodeficiency Associated With NBAS Mutations: Reports of Three Patients and Review of the Literature.
Khoreva A, Pomerantseva E, Belova N, Povolotskaya I, Konovalov F, Kaimonov V, Gavrina A, Zimin S, Pershin D, Davydova N, Burlakov V, Viktorova E, Roppelt A, Kalinina E, Novichkova G, Shcherbina A. Khoreva A, et al. Front Pediatr. 2020 Sep 15;8:577. doi: 10.3389/fped.2020.00577. eCollection 2020. Front Pediatr. 2020. PMID: 33042920 Free PMC article.
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. 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
Biallelic variants in PPP1R13L cause paediatric dilated cardiomyopathy.
Robinson HK, Zaklyazminskaya E, Povolotskaya I, Surikova Y, Mallin L, Armstrong C, Mabin D, Benke PJ, Chrisant MR, McDonald M, Marboe CC, Agre KE, Deyle DR, McWalter K, Douglas G, Balashova MS, Kaimonov V, Shirokova N, Pomerantseva E, Turner CL, Ellard S. Robinson HK, et al. Clin Genet. 2020 Oct;98(4):331-340. doi: 10.1111/cge.13812. Epub 2020 Aug 2. Clin Genet. 2020. PMID: 32666529
23 results