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Adult-onset variant ataxia-telangiectasia diagnosed by exome and cDNA sequencing.
Krenn M, Milenkovic I, Eckstein G, Zimprich F, Meitinger T, Foki T, Wagner M. Krenn M, et al. Among authors: eckstein g. Neurol Genet. 2019 Jun 25;5(4):e346. doi: 10.1212/NXG.0000000000000346. eCollection 2019 Aug. Neurol Genet. 2019. PMID: 31403082 Free PMC article. No abstract available.
Congenital heart disease risk loci identified by genome-wide association study in European patients.
Lahm H, Jia M, Dreßen M, Wirth F, Puluca N, Gilsbach R, Keavney BD, Cleuziou J, Beck N, Bondareva O, Dzilic E, Burri M, König KC, Ziegelmüller JA, Abou-Ajram C, Neb I, Zhang Z, Doppler SA, Mastantuono E, Lichtner P, Eckstein G, Hörer J, Ewert P, Priest JR, Hein L, Lange R, Meitinger T, Cordell HJ, Müller-Myhsok B, Krane M. Lahm H, et al. Among authors: eckstein g. J Clin Invest. 2021 Jan 19;131(2):e141837. doi: 10.1172/JCI141837. J Clin Invest. 2021. PMID: 33201861 Free PMC article. Clinical Trial.
Genome-wide association study of restless legs syndrome identifies common variants in three genomic regions.
Winkelmann J, Schormair B, Lichtner P, Ripke S, Xiong L, Jalilzadeh S, Fulda S, Pütz B, Eckstein G, Hauk S, Trenkwalder C, Zimprich A, Stiasny-Kolster K, Oertel W, Bachmann CG, Paulus W, Peglau I, Eisensehr I, Montplaisir J, Turecki G, Rouleau G, Gieger C, Illig T, Wichmann HE, Holsboer F, Müller-Myhsok B, Meitinger T. Winkelmann J, et al. Among authors: eckstein g. Nat Genet. 2007 Aug;39(8):1000-6. doi: 10.1038/ng2099. Epub 2007 Jul 18. Nat Genet. 2007. PMID: 17637780
PTPRD (protein tyrosine phosphatase receptor type delta) is associated with restless legs syndrome.
Schormair B, Kemlink D, Roeske D, Eckstein G, Xiong L, Lichtner P, Ripke S, Trenkwalder C, Zimprich A, Stiasny-Kolster K, Oertel W, Bachmann CG, Paulus W, Högl B, Frauscher B, Gschliesser V, Poewe W, Peglau I, Vodicka P, Vávrová J, Sonka K, Nevsimalova S, Montplaisir J, Turecki G, Rouleau G, Gieger C, Illig T, Wichmann HE, Holsboer F, Müller-Myhsok B, Meitinger T, Winkelmann J. Schormair B, et al. Among authors: eckstein g. Nat Genet. 2008 Aug;40(8):946-8. doi: 10.1038/ng.190. Epub 2008 Jul 27. Nat Genet. 2008. PMID: 18660810
51 results