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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: pfeufer a. BMC Neurol. 2011 Oct 27;11:134. doi: 10.1186/1471-2377-11-134. BMC Neurol. 2011. PMID: 22032306 Free PMC article.
Inherited cardiac arrhythmias: diagnosis, treatment, and prevention.
Beckmann BM, Pfeufer A, Kääb S. Beckmann BM, et al. Among authors: pfeufer a. Dtsch Arztebl Int. 2011 Sep;108(37):623-33; quiz 634. doi: 10.3238/arztebl.2011.0623. Epub 2011 Sep 16. Dtsch Arztebl Int. 2011. PMID: 21977220 Free PMC article. Review.
Mutations in the mitochondrial thioredoxin reductase gene TXNRD2 cause dilated cardiomyopathy.
Sibbing D, Pfeufer A, Perisic T, Mannes AM, Fritz-Wolf K, Unwin S, Sinner MF, Gieger C, Gloeckner CJ, Wichmann HE, Kremmer E, Schäfer Z, Walch A, Hinterseer M, Näbauer M, Kääb S, Kastrati A, Schömig A, Meitinger T, Bornkamm GW, Conrad M, von Beckerath N. Sibbing D, et al. Among authors: pfeufer a. Eur Heart J. 2011 May;32(9):1121-33. doi: 10.1093/eurheartj/ehq507. Epub 2011 Jan 18. Eur Heart J. 2011. PMID: 21247928
Long QT syndrome. Why does sex matter?
Kääb S, Pfeufer A, Hinterseer M, Näbauer M, Schulze-Bahr E. Kääb S, et al. Among authors: pfeufer a. Z Kardiol. 2004 Sep;93(9):641-5. doi: 10.1007/s00392-004-0129-6. Z Kardiol. 2004. PMID: 15365730 Review.
Analysis for Genetic Modifiers of Disease Severity in Patients With Long-QT Syndrome Type 2.
Kolder ICRM, Tanck MWT, Postema PG, Barc J, Sinner MF, Zumhagen S, Husemann A, Stallmeyer B, Koopmann TT, Hofman N, Pfeufer A, Lichtner P, Meitinger T, Beckmann BM, Myerburg RJ, Bishopric NH, Roden DM, Kääb S, Wilde AAM, Schott JJ, Schulze-Bahr E, Bezzina CR. Kolder ICRM, et al. Among authors: pfeufer a. Circ Cardiovasc Genet. 2015 Jun;8(3):447-456. doi: 10.1161/CIRCGENETICS.114.000785. Epub 2015 Mar 3. Circ Cardiovasc Genet. 2015. PMID: 25737393 Free PMC article.
Genome-wide association study identifies a susceptibility locus at 21q21 for ventricular fibrillation in acute myocardial infarction.
Bezzina CR, Pazoki R, Bardai A, Marsman RF, de Jong JSSG, Blom MT, Scicluna BP, Jukema JW, Bindraban NR, Lichtner P, Pfeufer A, Bishopric NH, Roden DM, Meitinger T, Chugh SS, Myerburg RJ, Jouven X, Kääb S, Dekker LRC, Tan HL, Tanck MWT, Wilde AAM. Bezzina CR, et al. Among authors: pfeufer a. Nat Genet. 2010 Aug;42(8):688-691. doi: 10.1038/ng.623. Epub 2010 Jul 11. Nat Genet. 2010. PMID: 20622880 Free PMC article.
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