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Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?
Orphanet J Rare Dis. 2018 Jul 19;13(1):120. doi: 10.1186/s13023-018-0784-8.
Orphanet J Rare Dis. 2018.
PMID: 30025539
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.
Nat Commun. 2017 Jun 12;8:15824. doi: 10.1038/ncomms15824.
Nat Commun. 2017.
PMID: 28604674
Free PMC article.
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Characterization of a Leber's hereditary optic neuropathy (LHON) family harboring two primary LHON mutations m.11778G>A and m.14484T>C of the mitochondrial DNA.
Catarino CB, Ahting U, Gusic M, Iuso A, Repp B, Peters K, Biskup S, von Livonius B, Prokisch H, Klopstock T.
Catarino CB, et al.
Mitochondrion. 2017 Sep;36:15-20. doi: 10.1016/j.mito.2016.10.002. Epub 2016 Oct 6.
Mitochondrion. 2017.
PMID: 27721048
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Assessing Mitochondrial Bioenergetics in Isolated Mitochondria from Various Mouse Tissues Using Seahorse XF96 Analyzer.
Iuso A, Repp B, Biagosch C, Terrile C, Prokisch H.
Iuso A, et al.
Methods Mol Biol. 2017;1567:217-230. doi: 10.1007/978-1-4939-6824-4_13.
Methods Mol Biol. 2017.
PMID: 28276021
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Bezafibrate Improves Insulin Sensitivity and Metabolic Flexibility in STZ-Induced Diabetic Mice.
Franko A, Huypens P, Neschen S, Irmler M, Rozman J, Rathkolb B, Neff F, Prehn C, Dubois G, Baumann M, Massinger R, Gradinger D, Przemeck GK, Repp B, Aichler M, Feuchtinger A, Schommers P, Stöhr O, Sanchez-Lasheras C, Adamski J, Peter A, Prokisch H, Beckers J, Walch AK, Fuchs H, Wolf E, Schubert M, Wiesner RJ, Hrabě de Angelis M.
Franko A, et al.
Diabetes. 2016 Sep;65(9):2540-52. doi: 10.2337/db15-1670. Epub 2016 Jun 9.
Diabetes. 2016.
PMID: 27284107
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