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Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency.
Am J Hum Genet. 2016 Jun 2;98(6):1130-1145. doi: 10.1016/j.ajhg.2016.04.006.
Am J Hum Genet. 2016.
PMID: 27259049
Free PMC article.
NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy.
Piekutowska-Abramczuk D, Assouline Z, Mataković L, Feichtinger RG, Koňařiková E, Jurkiewicz E, Stawiński P, Gusic M, Koller A, Pollak A, Gasperowicz P, Trubicka J, Ciara E, Iwanicka-Pronicka K, Rokicki D, Hanein S, Wortmann SB, Sperl W, Rötig A, Prokisch H, Pronicka E, Płoski R, Barcia G, Mayr JA.
Piekutowska-Abramczuk D, et al. Among authors: konarikova e.
Am J Hum Genet. 2018 Mar 1;102(3):460-467. doi: 10.1016/j.ajhg.2018.01.008. Epub 2018 Feb 8.
Am J Hum Genet. 2018.
PMID: 29429571
Free PMC article.
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Genetic diagnosis of Mendelian disorders via RNA sequencing.
Kremer LS, Bader DM, Mertes C, Kopajtich R, Pichler G, Iuso A, Haack TB, Graf E, Schwarzmayr T, Terrile C, Koňaříková E, Repp B, Kastenmüller G, Adamski J, Lichtner P, Leonhardt C, Funalot B, Donati A, Tiranti V, Lombes A, Jardel C, Gläser D, Taylor RW, Ghezzi D, Mayr JA, Rötig A, Freisinger P, Distelmaier F, Strom TM, Meitinger T, Gagneur J, Prokisch H.
Kremer LS, et al. Among authors: konarikova e.
Nat Commun. 2017 Jun 12;8:15824. doi: 10.1038/ncomms15824.
Nat Commun. 2017.
PMID: 28604674
Free PMC article.
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OCR-Stats: Robust estimation and statistical testing of mitochondrial respiration activities using Seahorse XF Analyzer.
Yépez VA, Kremer LS, Iuso A, Gusic M, Kopajtich R, Koňaříková E, Nadel A, Wachutka L, Prokisch H, Gagneur J.
Yépez VA, et al. Among authors: konarikova e.
PLoS One. 2018 Jul 11;13(7):e0199938. doi: 10.1371/journal.pone.0199938. eCollection 2018.
PLoS One. 2018.
PMID: 29995917
Free PMC article.
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Current progress in the therapeutic options for mitochondrial disorders.
Koňaříková E, Marković A, Korandová Z, Houštěk J, Mráček T.
Koňaříková E, et al.
Physiol Res. 2020 Dec 22;69(6):967-994. doi: 10.33549/physiolres.934529. Epub 2020 Nov 2.
Physiol Res. 2020.
PMID: 33129249
Free PMC article.
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