Hasil Pencarian - Eric Schulze-Bahr
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A rare cause of sudden unexpected death syndrome (SUDS) in the first year of life: endomyocardial fibroelastosis (EFE) due to two compound heterozygous MYBPC3 mutations oleh Benno Hartung, Anne Tank, Sven Dittmann, Stefanie Ritz-Timme, Eric Schulze-Bahr
Diterbitkan 2021-04-01
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Generation of a patient-specific hiPS cell line with heterozygous GNB2 mutation (UKMi003-A) causative for human sinus node dysfunction and a corresponding CRISPR/Cas9-corrected iso... oleh Anne Kayser, Sven Dittmann, Jassin Hamidi, Sandra D. Laufer, Ramona Krampe, Giulia Mearini, Arne Hansen, Eric Schulze-Bahr
Diterbitkan 2024-08-01
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Improved Clinical Risk Stratification in Patients with Long QT Syndrome? Novel Insights from Multi-Channel ECGs. oleh Alexander Samol, Mehmet Gönes, Sven Zumhagen, Hans-Jürgen Bruns, Matthias Paul, Christian Vahlhaus, Johannes Waltenberger, Eric Schulze-Bahr, Lars Eckardt, Gerold Mönnig
Diterbitkan 2016-01-01
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Cardiomyopathy related desmocollin-2 prodomain variants affect the intracellular cadherin transport and processing oleh Greta Marie Pohl, Manuel Göz, Anna Gaertner, Andreas Brodehl, Tolga Cimen, Ardan M. Saguner, Eric Schulze-Bahr, Volker Walhorn, Dario Anselmetti, Hendrik Milting
Diterbitkan 2023-05-01
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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... oleh Sven Zumhagen, Marieke W Veldkamp, Birgit Stallmeyer, Antonius Baartscheer, Lars Eckardt, Matthias Paul, Carol Ann Remme, Zahurul A Bhuiyan, Connie R Bezzina, Eric Schulze-Bahr
Diterbitkan 2013-01-01
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Whole Exome Sequencing Identifies a Heterozygous Variant in the Cav1.3 Gene <i>CACNA1D</i> Associated with Familial Sinus Node Dysfunction and Focal Idiopathic Epilepsy oleh Susanne Rinné, Birgit Stallmeyer, Alexandra Pinggera, Michael F. Netter, Lina A. Matschke, Sven Dittmann, Uwe Kirchhefer, Ulrich Neudorf, Joachim Opp, Jörg Striessnig, Niels Decher, Eric Schulze-Bahr
Diterbitkan 2022-11-01
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In Vitro Analyses of Novel HCN4 Gene Mutations oleh Melina Möller, Nicole Silbernagel, Eva Wrobel, Birgit Stallmayer, Elsie Amedonu, Susanne Rinné, Stefan Peischard, Sven G. Meuth, Bernhard Wünsch, Nathalie Strutz-Seebohm, Niels Decher, Eric Schulze-Bahr, Guiscard Seebohm
Diterbitkan 2018-09-01
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Switch From Fetal to Adult SCN5A Isoform in Human Induced Pluripotent Stem Cell–Derived Cardiomyocytes Unmasks the Cellular Phenotype of a Conduction Disease–Causing Mutation oleh Christiaan C. Veerman, Isabella Mengarelli, Elisabeth M. Lodder, Georgios Kosmidis, Milena Bellin, Miao Zhang, Sven Dittmann, Kaomei Guan, Arthur A. M. Wilde, Eric Schulze‐Bahr, Boris Greber, Connie R. Bezzina, Arie O. Verkerk
Diterbitkan 2017-07-01
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Sodium permeable and “hypersensitive” TREK‐1 channels cause ventricular tachycardia oleh Niels Decher, Beatriz Ortiz‐Bonnin, Corinna Friedrich, Marcus Schewe, Aytug K Kiper, Susanne Rinné, Gunnar Seemann, Rémi Peyronnet, Sven Zumhagen, Daniel Bustos, Jens Kockskämper, Peter Kohl, Steffen Just, Wendy González, Thomas Baukrowitz, Birgit Stallmeyer, Eric Schulze‐Bahr
Diterbitkan 2017-02-01
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Limitations of galactose therapy in phosphoglucomutase 1 deficiency oleh Kristine Nolting, Julien H. Park, Laura C. Tegtmeyer, Andrea Zühlsdorf, Marianne Grüneberg, Stephan Rust, Janine Reunert, Ingrid Du Chesne, Volker Debus, Eric Schulze-Bahr, Robert C. Baxter, Yoshinao Wada, Christian Thiel, Emile van Schaftingen, Ralph Fingerhut, Thorsten Marquardt
Diterbitkan 2017-12-01
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New Cav1.2 Channelopathy with High-Functioning Autism, Affective Disorder, Severe Dental Enamel Defects, a Short QT Interval, and a Novel <i>CACNA1C</i> Loss-of-Function Mutation oleh Dominique Endres, Niels Decher, Isabell Röhr, Kirsty Vowinkel, Katharina Domschke, Katalin Komlosi, Andreas Tzschach, Birgitta Gläser, Miriam A. Schiele, Kimon Runge, Patrick Süß, Florian Schuchardt, Kathrin Nickel, Birgit Stallmeyer, Susanne Rinné, Eric Schulze-Bahr, Ludger Tebartz van Elst
Diterbitkan 2020-11-01
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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) oleh Ina Rothenberg, PhD, Ilaria Piccini, PhD, Eva Wrobel, PhD, Birgit Stallmeyer, PhD, Jovanca Müller, MD, Boris Greber, PhD, Nathalie Strutz-Seebohm, PhD, Eric Schulze-Bahr, MD, Nicole Schmitt, PhD, Guiscard Seebohm, PhD
Diterbitkan 2016-11-01
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KCNE1 induces fenestration in the Kv7.1/KCNE1 channel complex that allows for highly specific pharmacological targeting oleh Eva Wrobel, Ina Rothenberg, Christoph Krisp, Franziska Hundt, Benjamin Fraenzel, Karina Eckey, Joannes T. M. Linders, David J. Gallacher, Rob Towart, Lutz Pott, Michael Pusch, Tao Yang, Dan M. Roden, Harley T. Kurata, Eric Schulze-Bahr, Nathalie Strutz-Seebohm, Dirk Wolters, Guiscard Seebohm
Diterbitkan 2016-10-01
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Genome wide analysis of drug-induced torsades de pointes: lack of common variants with large effect sizes. oleh Elijah R Behr, Marylyn D Ritchie, Toshihiro Tanaka, Stefan Kääb, Dana C Crawford, Paola Nicoletti, Aris Floratos, Moritz F Sinner, Prince J Kannankeril, Arthur A M Wilde, Connie R Bezzina, Eric Schulze-Bahr, Sven Zumhagen, Pascale Guicheney, Nanette H Bishopric, Vanessa Marshall, Saad Shakir, Chrysoula Dalageorgou, Steve Bevan, Yalda Jamshidi, Rachel Bastiaenen, Robert J Myerburg, Jean-Jacques Schott, A John Camm, Gerhard Steinbeck, Kris Norris, Russ B Altman, Nicholas P Tatonetti, Steve Jeffery, Michiaki Kubo, Yusuke Nakamura, Yufeng Shen, Alfred L George, Dan M Roden
Diterbitkan 2013-01-01
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European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement... oleh Arthur A. M. Wilde, Christopher Semsarian, Manlio F. Márquez, Alireza Sepehri Shamloo, Michael J. Ackerman, Euan A. Ashley, Back Sternick Eduardo, Héctor Barajas‐Martinez, Elijah R. Behr, Connie R. Bezzina, Jeroen Breckpot, Philippe Charron, Priya Chockalingam, Lia Crotti, Michael H. Gollob, Steven Lubitz, Naomasa Makita, Seiko Ohno, Martín Ortiz‐Genga, Luciana Sacilotto, Eric Schulze‐Bahr, Wataru Shimizu, Nona Sotoodehnia, Rafik Tadros, James S. Ware, David S. Winlaw, Elizabeth S. Kaufman, Takeshi Aiba, Andreas Bollmann, Jong‐Il Choi, Aarti Dalal, Francisco Darrieux, John Giudicessi, Mariana Guerchicoff, Kui Hong, Andrew D. Krahn, Ciorsti Mac Intyre, Judith A. Mackall, Lluís Mont, Carlo Napolitano, Pablo Ochoa Juan, Petr Peichl, Alexandre C. Pereira, Peter J. Schwartz, Jon Skinner, Christoph Stellbrink, Jacob Tfelt‐Hansen, Thomas Deneke
Diterbitkan 2022-08-01
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