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Case report: A rare variant m.4135T>C in the MT-ND1 gene leads to Leber hereditary optic neuropathy and altered respiratory chain supercomplexes.
Front Genet. 2023 May 18;14:1182288. doi: 10.3389/fgene.2023.1182288. eCollection 2023.
Front Genet. 2023.
PMID: 37274791
Free PMC article.
The Phenotypic Spectrum of 47 Czech Patients with Single, Large-Scale Mitochondrial DNA Deletions.
Anteneová N, Kelifová S, Kolářová H, Vondráčková A, Tóthová I, Lišková P, Magner M, Zámečník J, Hansíková H, Zeman J, Tesařová M, Honzík T.
Anteneová N, et al. Among authors: kelifova s.
Brain Sci. 2020 Oct 22;10(11):766. doi: 10.3390/brainsci10110766.
Brain Sci. 2020.
PMID: 33105723
Free PMC article.
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Subjective and polysomnographic evaluation of sleep in mitochondrial optic neuropathies.
Příhodová I, Nepožitek J, Kelifová S, Dostálová S, Kemlink D, Šonka K, Tesařová M, Honzík T, Kolářová H.
Příhodová I, et al. Among authors: kelifova s.
J Sleep Res. 2021 Apr;30(2):e13051. doi: 10.1111/jsr.13051. Epub 2020 Jun 10.
J Sleep Res. 2021.
PMID: 32524698
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Impact of citrulline substitution on clinical outcome after liver transplantation in carbamoyl phosphate synthetase 1 and ornithine transcarbamylase deficiency.
Aldrian D, Waldner B, Vogel GF, El-Gharbawy AH, McKiernan P, Vockley J, Landau YE, Al Mutairi F, Stepien KM, Kwok AM, Yıldız Y, Honzik T, Kelifova S, Ellaway C, Lund AM, Mori M, Grünert SC, Scholl-Bürgi S, Zöggeler T, Oberhuber R, Schneeberger S, Müller T, Karall D.
Aldrian D, et al. Among authors: kelifova s.
J Inherit Metab Dis. 2024 Mar;47(2):220-229. doi: 10.1002/jimd.12717. Epub 2024 Feb 20.
J Inherit Metab Dis. 2024.
PMID: 38375550
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