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Bi-Allelic COQ4 Variants Cause Adult-Onset Ataxia-Spasticity Spectrum Disease.
Cordts I, Semmler L, Prasuhn J, Seibt A, Herebian D, Navaratnarajah T, Park J, Deininger N, Laugwitz L, Göricke SL, Lingor P, Brüggemann N, Münchau A, Synofzik M, Timmann D, Mayr JA, Haack TB, Distelmaier F, Deschauer M. Cordts I, et al. Among authors: herebian d. Mov Disord. 2022 Oct;37(10):2147-2153. doi: 10.1002/mds.29167. Epub 2022 Sep 1. Mov Disord. 2022. PMID: 36047608
Caenorhabditis elegans ATAD-3 modulates mitochondrial iron and heme homeostasis.
van den Ecker D, Hoffmann M, Müting G, Maglioni S, Herebian D, Mayatepek E, Ventura N, Distelmaier F. van den Ecker D, et al. Among authors: herebian d. Biochem Biophys Res Commun. 2015 Nov 13;467(2):389-94. doi: 10.1016/j.bbrc.2015.09.143. Epub 2015 Sep 30. Biochem Biophys Res Commun. 2015. PMID: 26427876
NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood.
Kremer LS, Danhauser K, Herebian D, Petkovic Ramadža D, Piekutowska-Abramczuk D, Seibt A, Müller-Felber W, Haack TB, Płoski R, Lohmeier K, Schneider D, Klee D, Rokicki D, Mayatepek E, Strom TM, Meitinger T, Klopstock T, Pronicka E, Mayr JA, Baric I, Distelmaier F, Prokisch H. Kremer LS, et al. Among authors: herebian d. Am J Hum Genet. 2016 Oct 6;99(4):894-902. doi: 10.1016/j.ajhg.2016.07.018. Epub 2016 Sep 8. Am J Hum Genet. 2016. PMID: 27616477 Free PMC article.
Bypassing human CoQ10 deficiency.
Herebian D, López LC, Distelmaier F. Herebian D, et al. Mol Genet Metab. 2018 Mar;123(3):289-291. doi: 10.1016/j.ymgme.2017.12.008. Epub 2017 Dec 9. Mol Genet Metab. 2018. PMID: 29246431
76 results