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Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency.
Olsen RKJ, Koňaříková E, Giancaspero TA, Mosegaard S, Boczonadi V, Mataković L, Veauville-Merllié A, Terrile C, Schwarzmayr T, Haack TB, Auranen M, Leone P, Galluccio M, Imbard A, Gutierrez-Rios P, Palmfeldt J, Graf E, Vianey-Saban C, Oppenheim M, Schiff M, Pichard S, Rigal O, Pyle A, Chinnery PF, Konstantopoulou V, Möslinger D, Feichtinger RG, Talim B, Topaloglu H, Coskun T, Gucer S, Botta A, Pegoraro E, Malena A, Vergani L, Mazzà D, Zollino M, Ghezzi D, Acquaviva C, Tyni T, Boneh A, Meitinger T, Strom TM, Gregersen N, Mayr JA, Horvath R, Barile M, Prokisch H. Olsen RKJ, et al. Among authors: konarikova e. 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.
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.