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Page 1
Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome.
Wieczorek D, Newman WG, Wieland T, Berulava T, Kaffe M, Falkenstein D, Beetz C, Graf E, Schwarzmayr T, Douzgou S, Clayton-Smith J, Daly SB, Williams SG, Bhaskar SS, Urquhart JE, Anderson B, O'Sullivan J, Boute O, Gundlach J, Czeschik JC, van Essen AJ, Hazan F, Park S, Hing A, Kuechler A, Lohmann DR, Ludwig KU, Mangold E, Steenpaß L, Zeschnigk M, Lemke JR, Lourenco CM, Hehr U, Prott EC, Waldenberger M, Böhmer AC, Horsthemke B, O'Keefe RT, Meitinger T, Burn J, Lüdecke HJ, Strom TM. Wieczorek D, et al. Among authors: kaffe m. Am J Hum Genet. 2014 Dec 4;95(6):698-707. doi: 10.1016/j.ajhg.2014.10.014. Epub 2014 Nov 26. Am J Hum Genet. 2014. PMID: 25434003 Free PMC article.
MEIS1 and BTBD9: genetic association with restless leg syndrome in end stage renal disease.
Schormair B, Plag J, Kaffe M, Gross N, Czamara D, Samtleben W, Lichtner P, Ströhle A, Stefanidis I, Vainas A, Dardiotis E, Sakkas GK, Gieger C, Müller-Myhsok B, Meitinger T, Heemann U, Hadjigeorgiou GM, Oexle K, Winkelmann J. Schormair B, et al. Among authors: kaffe m. J Med Genet. 2011 Jul;48(7):462-6. doi: 10.1136/jmg.2010.087858. Epub 2011 May 14. J Med Genet. 2011. PMID: 21572129 Free PMC article.
Restless legs syndrome-associated intronic common variant in Meis1 alters enhancer function in the developing telencephalon.
Spieler D, Kaffe M, Knauf F, Bessa J, Tena JJ, Giesert F, Schormair B, Tilch E, Lee H, Horsch M, Czamara D, Karbalai N, von Toerne C, Waldenberger M, Gieger C, Lichtner P, Claussnitzer M, Naumann R, Müller-Myhsok B, Torres M, Garrett L, Rozman J, Klingenspor M, Gailus-Durner V, Fuchs H, Hrabě de Angelis M, Beckers J, Hölter SM, Meitinger T, Hauck SM, Laumen H, Wurst W, Casares F, Gómez-Skarmeta JL, Winkelmann J. Spieler D, et al. Among authors: kaffe m. Genome Res. 2014 Apr;24(4):592-603. doi: 10.1101/gr.166751.113. Epub 2014 Mar 18. Genome Res. 2014. PMID: 24642863 Free PMC article.
Genome-wide association study identifies novel restless legs syndrome susceptibility loci on 2p14 and 16q12.1.
Winkelmann J, Czamara D, Schormair B, Knauf F, Schulte EC, Trenkwalder C, Dauvilliers Y, Polo O, Högl B, Berger K, Fuhs A, Gross N, Stiasny-Kolster K, Oertel W, Bachmann CG, Paulus W, Xiong L, Montplaisir J, Rouleau GA, Fietze I, Vávrová J, Kemlink D, Sonka K, Nevsimalova S, Lin SC, Wszolek Z, Vilariño-Güell C, Farrer MJ, Gschliesser V, Frauscher B, Falkenstetter T, Poewe W, Allen RP, Earley CJ, Ondo WG, Le WD, Spieler D, Kaffe M, Zimprich A, Kettunen J, Perola M, Silander K, Cournu-Rebeix I, Francavilla M, Fontenille C, Fontaine B, Vodicka P, Prokisch H, Lichtner P, Peppard P, Faraco J, Mignot E, Gieger C, Illig T, Wichmann HE, Müller-Myhsok B, Meitinger T. Winkelmann J, et al. Among authors: kaffe m. PLoS Genet. 2011 Jul;7(7):e1002171. doi: 10.1371/journal.pgen.1002171. Epub 2011 Jul 14. PLoS Genet. 2011. PMID: 21779176 Free PMC article.
Iron in Restless Legs Syndrome.
Schulte EC, Kaffe M, Schormair B, Winkelmann J. Schulte EC, et al. Among authors: kaffe m. Mov Disord Clin Pract. 2014 Jun 12;1(3):161-172. doi: 10.1002/mdc3.12047. eCollection 2014 Sep. Mov Disord Clin Pract. 2014. PMID: 30363981 Free PMC article. Review.
Mutational screening of THAP1 in a German population with primary dystonia.
Kaffe M, Gross N, Castrop F, Dresel C, Gieger C, Lichtner P, Haslinger B, Winkelmann J. Kaffe M, et al. Parkinsonism Relat Disord. 2012 Jan;18(1):104-6. doi: 10.1016/j.parkreldis.2011.06.023. Epub 2011 Jul 22. Parkinsonism Relat Disord. 2012. PMID: 21782490 No abstract available.
Effect of blood pressure-lowering agents on microvascular function in people with small vessel diseases (TREAT-SVDs): a multicentre, open-label, randomised, crossover trial.
Kopczak A, Stringer MS, van den Brink H, Kerkhofs D, Blair GW, van Dinther M, Reyes CA, Garcia DJ, Onkenhout L, Wartolowska KA, Thrippleton MJ, Kampaite A, Duering M, Staals J, Lesnik-Oberstein S, Muir KW, Middeke M, Norrving B, Bousser MG, Mansmann U, Rothwell PM, Doubal FN, van Oostenbrugge R, Biessels GJ, Webb AJS, Wardlaw JM, Dichgans M; TREAT-SVDs collaborators. Kopczak A, et al. Lancet Neurol. 2023 Nov;22(11):991-1004. doi: 10.1016/S1474-4422(23)00293-4. Lancet Neurol. 2023. PMID: 37863608 Clinical Trial.
Intensive heart rhythm monitoring to decrease ischemic stroke and systemic embolism-the Find-AF 2 study-rationale and design.
Uhe T, Wasser K, Weber-Krüger M, Schäbitz WR, Köhrmann M, Brachmann J, Laufs U, Dichgans M, Gelbrich G, Petroff D, Prettin C, Michalski D, Kraft A, Etgen T, Schellinger PD, Soda H, Bethke F, Ertl M, Kallmünzer B, Grond M, Althaus K, Hamann GF, Mende M, Wagner M, Gröschel S, Uphaus T, Gröschel K, Wachter R; Find-AF 2 study group. Uhe T, et al. Am Heart J. 2023 Nov;265:66-76. doi: 10.1016/j.ahj.2023.06.016. Epub 2023 Jul 7. Am Heart J. 2023. PMID: 37422010 Free article. Clinical Trial.