Rakosnikova T - Search Results

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Mitochondrial organization and structure are compromised in fibroblasts from patients with Huntington's disease.

Vanisova M, Stufkova H, Kohoutova M, Rakosnikova T, Krizova J, Klempir J, Rysankova I, Roth J, Zeman J, Hansikova H. Vanisova M, et al. Among authors: rakosnikova t. Ultrastruct Pathol. 2022 Sep 3;46(5):462-475. doi: 10.1080/01913123.2022.2100951. Epub 2022 Aug 10. Ultrastruct Pathol. 2022. PMID: 35946926 Free article.

Case report: A rare variant m.4135T>C in the MT-ND1 gene leads to Leber hereditary optic neuropathy and altered respiratory chain supercomplexes.

Rákosníková T, Kelifová S, Štufková H, Lokvencová K, Lišková P, Kousal B, Honzík T, Hansíková H, Martínek V, Tesařová M. Rákosníková T, et al. Front Genet. 2023 May 18;14:1182288. doi: 10.3389/fgene.2023.1182288. eCollection 2023. Front Genet. 2023. PMID: 37274791 Free PMC article.

Metabolic adaptation of human skin fibroblasts to ER stress caused by glycosylation defect in PMM2-CDG.

Zdrazilova L, Rakosnikova T, Himmelreich N, Ondruskova N, Pasak M, Vanisova M, Volfova N, Honzik T, Thiel C, Hansikova H. Zdrazilova L, et al. Among authors: rakosnikova t. Mol Genet Metab. 2023 Aug;139(4):107629. doi: 10.1016/j.ymgme.2023.107629. Epub 2023 Jun 19. Mol Genet Metab. 2023. PMID: 37392701 Free article.

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