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Page 1
The role of SCARB2 as susceptibility factor in Parkinson's disease.
Hopfner F, Schulte EC, Mollenhauer B, Bereznai B, Knauf F, Lichtner P, Zimprich A, Haubenberger D, Pirker W, Brücke T, Peters A, Gieger C, Kuhlenbäumer G, Trenkwalder C, Winkelmann J. Hopfner F, et al. Among authors: knauf f. Mov Disord. 2013 Apr;28(4):538-40. doi: 10.1002/mds.25349. Epub 2013 Feb 13. Mov Disord. 2013. PMID: 23408458
Novel SCARB2 mutation in action myoclonus-renal failure syndrome and evaluation of SCARB2 mutations in isolated AMRF features.
Hopfner F, Schormair B, Knauf F, Berthele A, Tölle TR, Baron R, Maier C, Treede RD, Binder A, Sommer C, Maihöfner C, Kunz W, Zimprich F, Heemann U, Pfeufer A, Näbauer M, Kääb S, Nowak B, Gieger C, Lichtner P, Trenkwalder C, Oexle K, Winkelmann J. Hopfner F, et al. Among authors: knauf f. BMC Neurol. 2011 Oct 27;11:134. doi: 10.1186/1471-2377-11-134. BMC Neurol. 2011. PMID: 22032306 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: knauf f. 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.
Targeted resequencing and systematic in vivo functional testing identifies rare variants in MEIS1 as significant contributors to restless legs syndrome.
Schulte EC, Kousi M, Tan PL, Tilch E, Knauf F, Lichtner P, Trenkwalder C, Högl B, Frauscher B, Berger K, Fietze I, Hornyak M, Oertel WH, Bachmann CG, Zimprich A, Peters A, Gieger C, Meitinger T, Müller-Myhsok B, Katsanis N, Winkelmann J. Schulte EC, et al. Among authors: knauf f. Am J Hum Genet. 2014 Jul 3;95(1):85-95. doi: 10.1016/j.ajhg.2014.06.005. Am J Hum Genet. 2014. PMID: 24995868 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: knauf f. 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.
Opportunities in Primary and Enteric Hyperoxaluria at the Cross-Roads Between the Clinic and Laboratory.
Cellini B, Baum MA, Frishberg Y, Groothoff JW, Harris PC, Hulton SA, Knauf F, Knight J, Lieske JC, Lowther WT, Moochhala S, Nazzal L, Tasian GE, Whittamore JM, Sas DJ. Cellini B, et al. Among authors: knauf f. Kidney Int Rep. 2024 Sep 1;9(11):3083-3096. doi: 10.1016/j.ekir.2024.08.031. eCollection 2024 Nov. Kidney Int Rep. 2024. PMID: 39534212 Free PMC article.
Oxalate Metabolism: From Kidney Stones to Cardiovascular Disease.
Hawkins-van der Cingel G, Walsh SB, Eckardt KU, Knauf F. Hawkins-van der Cingel G, et al. Among authors: knauf f. Mayo Clin Proc. 2024 Jul;99(7):1149-1161. doi: 10.1016/j.mayocp.2024.02.006. Epub 2024 May 17. Mayo Clin Proc. 2024. PMID: 38762815 Free article. Review.
67 results