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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. Among authors: elstner m. 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.
The mitochondrial proteome database: MitoP2.
Elstner M, Andreoli C, Klopstock T, Meitinger T, Prokisch H. Elstner M, et al. Methods Enzymol. 2009;457:3-20. doi: 10.1016/S0076-6879(09)05001-0. Methods Enzymol. 2009. PMID: 19426859
Creatine in mouse models of neurodegeneration and aging.
Klopstock T, Elstner M, Bender A. Klopstock T, et al. Among authors: elstner m. Amino Acids. 2011 May;40(5):1297-303. doi: 10.1007/s00726-011-0850-1. Epub 2011 Mar 10. Amino Acids. 2011. PMID: 21390530 Review.
Single-cell expression profiling of dopaminergic neurons combined with association analysis identifies pyridoxal kinase as Parkinson's disease gene.
Elstner M, Morris CM, Heim K, Lichtner P, Bender A, Mehta D, Schulte C, Sharma M, Hudson G, Goldwurm S, Giovanetti A, Zeviani M, Burn DJ, McKeith IG, Perry RH, Jaros E, Krüger R, Wichmann HE, Schreiber S, Campbell H, Wilson JF, Wright AF, Dunlop M, Pistis G, Toniolo D, Chinnery PF, Gasser T, Klopstock T, Meitinger T, Prokisch H, Turnbull DM. Elstner M, et al. Ann Neurol. 2009 Dec;66(6):792-8. doi: 10.1002/ana.21780. Ann Neurol. 2009. PMID: 20035503 Free PMC article.
Identification of a Novel Variant in MT-CO3 Causing MELAS.
Xu M, Kopajtich R, Elstner M, Wang Z, Liu Z, Wang J, Prokisch H, Fang F. Xu M, et al. Among authors: elstner m. Front Genet. 2021 May 12;12:638749. doi: 10.3389/fgene.2021.638749. eCollection 2021. Front Genet. 2021. PMID: 34054915 Free PMC article.
207 results