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Structural interplay of KV7.1 and KCNE1 is essential for normal repolarization and is compromised in short QT syndrome 2 (KV7.1-A287T).
Rothenberg I, Piccini I, Wrobel E, Stallmeyer B, Müller J, Greber B, Strutz-Seebohm N, Schulze-Bahr E, Schmitt N, Seebohm G. Rothenberg I, et al. Among authors: stallmeyer b. HeartRhythm Case Rep. 2016 Sep 12;2(6):521-529. doi: 10.1016/j.hrcr.2016.08.015. eCollection 2016 Nov. HeartRhythm Case Rep. 2016. PMID: 28491751 Free PMC article. No abstract available.
A heterozygous deletion mutation in the cardiac sodium channel gene SCN5A with loss- and gain-of-function characteristics manifests as isolated conduction disease, without signs of Brugada or long QT syndrome.
Zumhagen S, Veldkamp MW, Stallmeyer B, Baartscheer A, Eckardt L, Paul M, Remme CA, Bhuiyan ZA, Bezzina CR, Schulze-Bahr E. Zumhagen S, et al. Among authors: stallmeyer b. PLoS One. 2013 Jun 28;8(6):e67963. doi: 10.1371/journal.pone.0067963. Print 2013. PLoS One. 2013. PMID: 23840796 Free PMC article.
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: stallmeyer b. 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.
70 results