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Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation.
Hartig MB, Iuso A, Haack T, Kmiec T, Jurkiewicz E, Heim K, Roeber S, Tarabin V, Dusi S, Krajewska-Walasek M, Jozwiak S, Hempel M, Winkelmann J, Elstner M, Oexle K, Klopstock T, Mueller-Felber W, Gasser T, Trenkwalder C, Tiranti V, Kretzschmar H, Schmitz G, Strom TM, Meitinger T, Prokisch H. Hartig MB, et al. Am J Hum Genet. 2011 Oct 7;89(4):543-50. doi: 10.1016/j.ajhg.2011.09.007. Am J Hum Genet. 2011. PMID: 21981780 Free PMC article.
Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy.
Haack TB, Ignatius E, Calvo-Garrido J, Iuso A, Isohanni P, Maffezzini C, Lönnqvist T, Suomalainen A, Gorza M, Kremer LS, Graf E, Hartig M, Berutti R, Paucar M, Svenningsson P, Stranneheim H, Brandberg G, Wedell A, Kurian MA, Hayflick SA, Venco P, Tiranti V, Strom TM, Dichgans M, Horvath R, Holinski-Feder E, Freyer C, Meitinger T, Prokisch H, Senderek J, Wredenberg A, Carroll CJ, Klopstock T. Haack TB, et al. Am J Hum Genet. 2016 Sep 1;99(3):735-743. doi: 10.1016/j.ajhg.2016.06.026. Epub 2016 Aug 18. Am J Hum Genet. 2016. PMID: 27545679 Free PMC article.
Pantothenate kinase-associated neurodegeneration.
Hartig MB, Prokisch H, Meitinger T, Klopstock T. Hartig MB, et al. Curr Drug Targets. 2012 Aug;13(9):1182-9. doi: 10.2174/138945012802002384. Curr Drug Targets. 2012. PMID: 22515741 Review.
Alterations of red cell membrane properties in neuroacanthocytosis.
Siegl C, Hamminger P, Jank H, Ahting U, Bader B, Danek A, Gregory A, Hartig M, Hayflick S, Hermann A, Prokisch H, Sammler EM, Yapici Z, Prohaska R, Salzer U. Siegl C, et al. PLoS One. 2013 Oct 3;8(10):e76715. doi: 10.1371/journal.pone.0076715. eCollection 2013. PLoS One. 2013. PMID: 24098554 Free PMC article.