Hansíková H - Search Results

1

[Mitochondrial myopathy, deafness and type 2 diabetes mellitus with tRNALeu(UUR) point mutation in mitochondrial DNA].

Stratilová L, Zeman J, Hansíková H, Houstĕk J, Hermanská J, Dudková Z, Konrádová V, Hůlková H, Elleder M. Stratilová L, et al. Among authors: hansikova h. Cas Lek Cesk. 1998 Jul 13;137(14):430-3. Cas Lek Cesk. 1998. PMID: 9748738 Czech.

2

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: hansikova h. 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.

3

ATAD3A-related pontocerebellar hypoplasia: new patients and insights into phenotypic variability.

Skopkova M, Stufkova H, Rambani V, Stranecky V, Brennerova K, Kolnikova M, Pietrzykova M, Karhanek M, Noskova L, Tesarova M, Hansikova H, Gasperikova D. Skopkova M, et al. Among authors: hansikova h. Orphanet J Rare Dis. 2023 Apr 24;18(1):92. doi: 10.1186/s13023-023-02689-3. Orphanet J Rare Dis. 2023. PMID: 37095554 Free PMC article.

4

Elevated oxysterol and N-palmitoyl-O-phosphocholineserine levels in congenital disorders of glycosylation.

Dang Do AN, Chang IJ, Jiang X, Wolfe LA, Ng BG, Lam C, Schnur RE, Allis K, Hansikova H, Ondruskova N, O'Connor SD, Sanchez-Valle A, Vollo A, Wang RY, Wolfenson Z, Perreault J, Ory DS, Freeze HH, Merritt JL, Porter FD. Dang Do AN, et al. Among authors: hansikova h. J Inherit Metab Dis. 2023 Mar;46(2):326-334. doi: 10.1002/jimd.12595. Epub 2023 Feb 3. J Inherit Metab Dis. 2023. PMID: 36719165 Free PMC article.

5

Complex metabolic disharmony in PMM2-CDG paves the way to new therapeutic approaches.

Himmelreich N, Kikul F, Zdrazilova L, Honzik T, Hecker A, Poschet G, Lüchtenborg C, Brügger B, Strahl S, Bürger F, Okun JG, Hansikova H, Thiel C. Himmelreich N, et al. Among authors: hansikova h. Mol Genet Metab. 2023 Jul;139(3):107610. doi: 10.1016/j.ymgme.2023.107610. Epub 2023 May 16. Mol Genet Metab. 2023. PMID: 37245379

6

Generation of two human iPSC lines from dermal fibroblasts of adult- and juvenile-onset Huntington's disease patients and two healthy donors.

Piechota M, Latoszek E, Liszewska E, Hansíková H, Klempíř J, Mühlbäck A, Landwehrmeyer GB, Kuźnicki J, Czeredys M. Piechota M, et al. Among authors: hansikova h. Stem Cell Res. 2023 Sep;71:103194. doi: 10.1016/j.scr.2023.103194. Epub 2023 Aug 25. Stem Cell Res. 2023. PMID: 37651831 Free article.

7

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. Among authors: hansikova h. Front Genet. 2023 May 18;14:1182288. doi: 10.3389/fgene.2023.1182288. eCollection 2023. Front Genet. 2023. PMID: 37274791 Free PMC article.

8

Mitochondrial Dysfunction in a High Intraocular Pressure-Induced Retinal Ischemia Minipig Model.

Pasák M, Vanišová M, Tichotová L, Křížová J, Ardan T, Nemesh Y, Čížková J, Kolesnikova A, Nyshchuk R, Josifovska N, Lytvynchuk L, Kolko M, Motlík J, Petrovski G, Hansíková H. Pasák M, et al. Among authors: hansikova h. Biomolecules. 2022 Oct 21;12(10):1532. doi: 10.3390/biom12101532. Biomolecules. 2022. PMID: 36291741 Free PMC article.

9

Altered properties of mitochondrial ATP-synthase in patients with a T-->G mutation in the ATPase 6 (subunit a) gene at position 8993 of mtDNA.

Houstĕk J, Klement P, Hermanská J, Houstková H, Hansíková H, Van den Bogert C, Zeman J. Houstĕk J, et al. Among authors: hansikova h. Biochim Biophys Acta. 1995 Jun 9;1271(2-3):349-57. doi: 10.1016/0925-4439(95)00063-a. Biochim Biophys Acta. 1995. PMID: 7605802 Free article.

10

Different restriction fragment pattern of mtDNA indicative of generalized 8993 point mutations in a boy with lactic acidosis.

Klement P, Zeman J, Hansikova H, Houstkova H, Baudysova M, Houstek J. Klement P, et al. Among authors: hansikova h. J Inherit Metab Dis. 1994;17(2):249-50. doi: 10.1007/BF00711630. J Inherit Metab Dis. 1994. PMID: 7967485 No abstract available.

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