Nicole Schmitt
Professor with special responsibilities
Molecular Cardiology and Membrane Proteins
Blegdamsvej 3, 2200 København N, Bygning 7, Building: 07-9-36
Denmark
- 2020
- Published
A Novel Loss-of-Function Variant in the Chloride Ion Channel Gene Clcn2 Associates with Atrial Fibrillation
Hansen, T. H., Yan, Yannan, Ahlberg, G., Vad, O. B., Refsgaard, L., Dos Santos, J. L., Mutsaers, N., Svendsen, Jesper Hastrup, Olesen, Morten Steen Salling, Bentzen, Bo Hjorth & Schmitt, Nicole, 29 Jan 2020, In : Scientific Reports. 10, 1, 10 p., 1453.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Functional phenotype variations of two novel Kv 7.1 mutations identified in patients with Long QT syndrome
Hammami Bomholtz, S., Refaat, M., Steffensen, Annette Buur, David, J., Espinosa, K., Nussbaum, R., Wojciak, J., Bentzen, Bo Hjorth, Scheinman, M. & Schmitt, Nicole, 2020, In : Pacing and Clinical Electrophysiology. 43, 2, p. 210-216 7 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Investigating gene-microRNA networks in atrial fibrillation patients with mitral valve regurgitation
Santos, J. L., Rodriguez Palomo, Ismael, Olesen, Morten Steen Salling, Bentzen, Bo Hjorth & Schmitt, Nicole, 2020, In : PLoS ONE. 15, 5, 21 p., e0232719.Research output: Contribution to journal › Journal article › Research › peer-review
- 2019
- Published
Deletion in mice of X-linked, Brugada syndrome- and atrial fibrillation-associated Kcne5 augments ventricular KV currents and predisposes to ventricular arrhythmia
David, J., Lisewski, U., Crump, S. M., Jepps, Thomas Andrew Qvistgaard, Bocksteins, E., Wilck, N., Lossie, J., Roepke, T. K., Schmitt, Nicole & Abbott, G. W., Feb 2019, In : FASEB journal : official publication of the Federation of American Societies for Experimental Biology. 33, 2, p. 2537-2552 16 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Reappraisal of variants previously linked with sudden infant death syndrome: results from three population-based cohorts
Paludan-Mueller, C., Ghouse, Jonas, Vad, O. B., Herfelt, C. B., Lundegaard, Pia Rengtved, Ahlberg, G., Schmitt, Nicole, Svendsen, Jesper Hastrup, Haunsø, Stig, Bundgård, Henning, Hansen, Torben, Kanters, Jørgen K. & Olesen, Morten Steen Salling, 2019, In : European Journal of Human Genetics. 27, 9, p. 1427-1435Research output: Contribution to journal › Journal article › Research › peer-review
- 2018
- Published
Homozygosity for SCN4A Arg1142Gln causes congenital myopathy with variable disease expression
Sloth, C. K., Denti, F., Schmitt, Nicole, Bentzen, Bo Hjorth, Fagerberg, C., Vissing, John & Gaist, D., Oct 2018, In : Neurology: Genetics. 4, 5, p. e267 3 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Functional consequences of genetic variation in sodium channel modifiers in early onset lone atrial fibrillation
Denti, F., Paludan-Müller, C., Olesen, Søren-Peter, Haunsø, Stig, Svendsen, Jesper Hastrup, Olesen, Morten Steen Salling, Bentzen, Bo Hjorth & Schmitt, Nicole, Mar 2018, In : Personalized Medicine. 15, 2, p. 93-102 10 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
SUMO co-expression modifies KV 11.1 channel activity
Steffensen, Annette Buur, Andersen, M. N., Mutsaers, N., Mujezinovic, A. & Schmitt, Nicole, Mar 2018, In : Acta Physiologica (Print). 222, 3, 11 p., e12974.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Multiple genetic variations in sodium channel subunits in a case of sudden infant death syndrome
Denti, F., Bentzen, Bo Hjorth, Wojciak, J., Thomsen, N. M., Scheinman, M. & Schmitt, Nicole, 2018, In : Pacing and Clinical Electrophysiology. 41, 6, p. 620-626Research output: Contribution to journal › Journal article › Research › peer-review
- Published
PKD Phosphorylation as Novel Pathway of KV11.1 Regulation
Steffensen, Annette Buur, Bomholtz, S. H., Andersen, M. N., Olsen, Jesper Velgaard, Mutsaers, N., Lundegaard, Pia Rengtved, Lundby, Alicia & Schmitt, Nicole, 2018, In : Cellular Physiology and Biochemistry. 47, 4, p. 1742-1750 9 p.Research output: Contribution to journal › Journal article › Research › peer-review
ID: 5624
Most downloads
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2590
downloads
Dysfunction of the heteromeric KV7.3/KV7.5 potassium channel is associated with autism spectrum disorders
Research output: Contribution to journal › Journal article › Research › peer-review
Published -
1415
downloads
Characterization and mechanisms of action of novel NaV1.5 channel mutations associated with Brugada syndrome
Research output: Contribution to journal › Journal article › Research › peer-review
Published -
157
downloads
In silico assessment of genetic variation in KCNA5 reveals multiple mechanisms of human atrial arrhythmogenesis
Research output: Contribution to journal › Journal article › Research › peer-review
Published