Schmitt N - Search Results

1

High incidence of functional ion-channel abnormalities in a consecutive Long QT cohort with novel missense genetic variants of unknown significance.

Steffensen AB, Refaat MM, David JP, Mujezinovic A, Calloe K, Wojciak J, Nussbaum RL, Scheinman MM, Schmitt N. Steffensen AB, et al. Among authors: schmitt n. Sci Rep. 2015 Jun 12;5:10009. doi: 10.1038/srep10009. Sci Rep. 2015. PMID: 26066609 Free PMC article.

2

SUMO co-expression modifies K_V 11.1 channel activity.

Steffensen AB, Andersen MN, Mutsaers N, Mujezinovic A, Schmitt N. Steffensen AB, et al. Among authors: schmitt n. Acta Physiol (Oxf). 2018 Mar;222(3). doi: 10.1111/apha.12974. Epub 2017 Sep 26. Acta Physiol (Oxf). 2018. PMID: 28888063

3

Iron Overload Leading to Torsades de Pointes in β-Thalassemia and Long QT Syndrome.

Refaat MM, El Hage L, Steffensen AB, Hotait M, Schmitt N, Scheinman M, Badhwar N. Refaat MM, et al. Among authors: schmitt n. Card Electrophysiol Clin. 2016 Mar;8(1):247-56. doi: 10.1016/j.ccep.2015.10.037. Card Electrophysiol Clin. 2016. PMID: 26920202 Review.

4

Functional phenotype variations of two novel K_V 7.1 mutations identified in patients with Long QT syndrome.

Hammami Bomholtz S, Refaat M, Buur Steffensen A, David JP, Espinosa K, Nussbaum R, Wojciak J, Hjorth Bentzen B, Scheinman M, Schmitt N. Hammami Bomholtz S, et al. Among authors: schmitt n. Pacing Clin Electrophysiol. 2020 Feb;43(2):210-216. doi: 10.1111/pace.13870. Epub 2020 Jan 11. Pacing Clin Electrophysiol. 2020. PMID: 31899541

5

Functional assessment of compound mutations in the KCNQ1 and KCNH2 genes associated with long QT syndrome.

Grunnet M, Behr ER, Calloe K, Hofman-Bang J, Till J, Christiansen M, McKenna WJ, Olesen SP, Schmitt N. Grunnet M, et al. Among authors: schmitt n. Heart Rhythm. 2005 Nov;2(11):1238-49. doi: 10.1016/j.hrthm.2005.07.025. Heart Rhythm. 2005. PMID: 16253915

6

The novel C-terminal KCNQ1 mutation M520R alters protein trafficking.

Schmitt N, Calloe K, Nielsen NH, Buschmann M, Speckmann EJ, Schulze-Bahr E, Schwarz M. Schmitt N, et al. Biochem Biophys Res Commun. 2007 Jun 22;358(1):304-10. doi: 10.1016/j.bbrc.2007.04.127. Epub 2007 Apr 27. Biochem Biophys Res Commun. 2007. PMID: 17482572

7

Characterizations of a loss-of-function mutation in the Kir3.4 channel subunit.

Calloe K, Ravn LS, Schmitt N, Sui JL, Duno M, Haunso S, Grunnet M, Svendsen JH, Olesen SP. Calloe K, et al. Among authors: schmitt n. Biochem Biophys Res Commun. 2007 Dec 28;364(4):889-95. doi: 10.1016/j.bbrc.2007.10.106. Epub 2007 Oct 29. Biochem Biophys Res Commun. 2007. PMID: 17967416

8

Functional properties of human neuronal Kv11 channels.

Einarsen K, Calloe K, Grunnet M, Olesen SP, Schmitt N. Einarsen K, et al. Among authors: schmitt n. Pflugers Arch. 2009 Aug;458(4):689-700. doi: 10.1007/s00424-009-0651-5. Epub 2009 Mar 25. Pflugers Arch. 2009. PMID: 19319565

9

Multiple arrhythmic syndromes in a newborn, owing to a novel mutation in SCN5A.

Calloe K, Schmitt N, Grubb S, Pfeiffer R, David JP, Kanter R, Cordeiro JM, Antzelevitch C. Calloe K, et al. Among authors: schmitt n. Can J Physiol Pharmacol. 2011 Oct;89(10):723-36. doi: 10.1139/y11-070. Epub 2011 Sep 6. Can J Physiol Pharmacol. 2011. PMID: 21895525 Free PMC article.

10

Mutations in the potassium channel subunit KCNE1 are associated with early-onset familial atrial fibrillation.

Olesen MS, Bentzen BH, Nielsen JB, Steffensen AB, David JP, Jabbari J, Jensen HK, Haunsø S, Svendsen JH, Schmitt N. Olesen MS, et al. Among authors: schmitt n. BMC Med Genet. 2012 Apr 3;13:24. doi: 10.1186/1471-2350-13-24. BMC Med Genet. 2012. PMID: 22471742 Free PMC article.

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