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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1993 2
1994 2
1995 1
1996 2
1997 1
1998 2
1999 2
2000 2
2001 2
2002 6
2003 3
2004 7
2005 3
2006 6
2007 6
2008 6
2009 2
2010 3
2011 2
2012 10
2013 6
2014 8
2015 7
2016 8
2017 7
2018 11
2019 9
2020 9
2021 7
2022 10
2023 7
2024 1

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147 results

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Page 1
De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus.
Galosi S, Edani BH, Martinelli S, Hansikova H, Eklund EA, Caputi C, Masuelli L, Corsten-Janssen N, Srour M, Oegema R, Bosch DGM, Ellis CA, Amlie-Wolf L, Accogli A, Atallah I, Averdunk L, Barañano KW, Bei R, Bagnasco I, Brusco A, Demarest S, Alaix AS, Di Bonaventura C, Distelmaier F, Elmslie F, Gan-Or Z, Good JM, Gripp K, Kamsteeg EJ, Macnamara E, Marcelis C, Mercier N, Peeden J, Pizzi S, Pannone L, Shinawi M, Toro C, Verbeek NE, Venkateswaran S, Wheeler PG, Zdrazilova L, Zhang R, Zorzi G, Guerrini R, Sessa WC, Lefeber DJ, Tartaglia M, Hamdan FF, Grabińska KA, Leuzzi V. Galosi S, et al. Among authors: hansikova h. Brain. 2022 Mar 29;145(1):208-223. doi: 10.1093/brain/awab299. Brain. 2022. PMID: 34382076 Free PMC article.
Mitophagy in Huntington's disease.
Šonský I, Vodička P, Vodičková Kepková K, Hansíková H. Šonský I, et al. Among authors: hansikova h. Neurochem Int. 2021 Oct;149:105147. doi: 10.1016/j.neuint.2021.105147. Epub 2021 Jul 28. Neurochem Int. 2021. PMID: 34329735 Free article. Review.
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.
Congenital disorders of glycosylation: Still "hot" in 2020.
Ondruskova N, Cechova A, Hansikova H, Honzik T, Jaeken J. Ondruskova N, et al. Among authors: hansikova h. Biochim Biophys Acta Gen Subj. 2021 Jan;1865(1):129751. doi: 10.1016/j.bbagen.2020.129751. Epub 2020 Sep 28. Biochim Biophys Acta Gen Subj. 2021. PMID: 32991969 Review.
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
Biogenesis of eukaryotic cytochrome c oxidase.
Stiburek L, Hansikova H, Tesarova M, Cerna L, Zeman J. Stiburek L, et al. Among authors: hansikova h. Physiol Res. 2006;55 Suppl 2:S27-41. doi: 10.33549/physiolres.930000.55.S2.27. Physiol Res. 2006. PMID: 17298220 Free article. Review.
Oral D-galactose supplementation in PGM1-CDG.
Wong SY, Gadomski T, van Scherpenzeel M, Honzik T, Hansikova H, Holmefjord KSB, Mork M, Bowling F, Sykut-Cegielska J, Koch D, Hertecant J, Preston G, Jaeken J, Peeters N, Perez S, Nguyen DD, Crivelly K, Emmerzaal T, Gibson KM, Raymond K, Abu Bakar N, Foulquier F, Poschet G, Ackermann AM, He M, Lefeber DJ, Thiel C, Kozicz T, Morava E. Wong SY, et al. Among authors: hansikova h. Genet Med. 2017 Nov;19(11):1226-1235. doi: 10.1038/gim.2017.41. Epub 2017 Jun 15. Genet Med. 2017. PMID: 28617415 Free PMC article. Clinical Trial.
Genetic defects of cytochrome c oxidase assembly.
Pecina P, Houstková H, Hansíková H, Zeman J, Houstek J. Pecina P, et al. Among authors: hansikova h. Physiol Res. 2004;53 Suppl 1:S213-23. Physiol Res. 2004. PMID: 15119951 Free article. Review.
147 results