日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Clinical features and outcomes in carriers of pathogenic desmoplakin variants

致病性桥粒蛋白变异携带者的临床特征和预后

Gasperetti, Alessio; Carrick, Richard T; Protonotarios, Alexandros; Murray, Brittney; Laredo, Mikael; van der Schaaf, Iris; Lekanne, Ronald H; Syrris, Petros; Cannie, Douglas; Tichnell, Crystal; Cappelletto, Chiara; Gigli, Marta; Medo, Kristen; Saguner, Ardan M; Duru, Firat; Gilotra, Nisha A; Zimmerman, Stefan; Hylind, Robyn; Abrams, Dominic J; Lakdawala, Neal K; Cadrin-Tourigny, Julia; Targetti, Mattia; Olivotto, Iacopo; Graziosi, Maddalena; Cox, Moniek; Biagini, Elena; Charron, Philippe; Casella, Michela; Tondo, Claudio; Yazdani, Momina; Ware, James S; Prasad, Sanjay K; Calò, Leonardo; Smith, Eric D; Helms, Adam S; Hespe, Sophie; Ingles, Jodie; Tandri, Harikrishna; Ader, Flavie; Peretto, Giovanni; Peters, Stacey; Horton, Ari; Yao, Jess; Dittmann, Sven; Schulze-Bahr, Eric; Qureshi, Maria; Young, Katelyn; Carruth, Eric D; Haggerty, Chris; Parikh, Victoria N; Taylor, Matthew; Mestroni, Luisa; Wilde, Arthur; Sinagra, Gianfranco; Merlo, Marco; Gandjbakhch, Estelle; van Tintelen, J Peter; Te Riele, Anneline S J M; Elliott, Perry M; Calkins, Hugh; James, Cynthia A

Unusual hypertrophic cardiomyopathy: case report of an early onset wild-type ATTR amyloidosis accompanied by a chromosomal duplication involving the MYH6 and MYH7 gene

罕见的肥厚型心肌病:一例伴有MYH6和MYH7基因染色体重复的早发性野生型ATTR淀粉样变性病例报告

Hamidi, Jassin; Hanel, Yvonne; Dittmann, Sven; Gerding, Wanda Maria; Nguyen, Huu Phuc; Klingel, Karin; Schulze-Bahr, Eric

A MATLAB Algorithm to Automatically Estimate the QT Interval and Other ECG Parameters and Validation Using a Machine Learning Approach in Congenital Long-QT Syndrome

一种用于自动估计先天性长QT综合征患者QT间期和其他心电图参数的MATLAB算法及其基于机器学习方法的验证

Tzvi-Minker, Elinor; Dittmann, Sven; Rickert, Corinna; Keck, Andreas; Schulze-Bahr, Eric

Cardiac arrhythmias and genetics - current stage

心律失常与遗传学——当前阶段

Schulze-Bahr; Dittmann, Sven; Kerkering, Janis

Prognostic Role of Myocarditis-Like Episodes and Their Treatment in Patients With Pathogenic Desmoplakin Variants

心肌炎样发作及其治疗在致病性桥粒蛋白变异患者中的预后作用

Gasperetti, Alessio; Muller, Steven A; Peretto, Giovanni; Asatryan, Babken; Protonotarios, Alexandros; Laredo, Mikael; Tarlet, Pierre-Yves; Syrris, Petros; Carrick, Richard T; Murray, Brittney; Tichnell, Crystal; Scheel, Paul; Gigli, Marta; Yap, Sing-Chien; Pilichou, Kalliopi; Basso, Cristina; Medo, Kristen; Jason, Max; Rossi, Valentina A; Saguner, Ardan M; Duru, Firat; Abrams, Dominic; Cadrin-Tourigny, Julia; Targetti, Mattia; Pieroni, Maurizio; Graziosi, Maddalena; Biagini, Elena; Charron, Philippe; Cox, Moniek; Casella, Michela; Tondo, Claudio; Ware, James S; Prasad, Sanjay K; Calò, Leonardo; Smith, Eric; Ingles, Jodie; Tandri, Harikrishna; Ader, Flavie; Peters, Stacey; Zentner, Dominica; Russo, Jeremy; Ravaro, Silvia; Crotti, Lia; Dittmann, Sven; Schulze-Bahr, Eric; Carruth, Eric D; Krysov, Vikki A; Parikh, Victoria N; Conte, Giulio; Wilde, Arthur; van Tintelen, J Peter; Te Riele, Anneline S J M; Sinagra, Gianfranco; Mestroni, Luisa; Taylor, Matthew; Merlo, Marco; Adamo, Luigi; Calkins, Hugh; Bauce, Barbara; Arbelo, Elena; Elliott, Perry M; Gandjbakhch, Estelle; Lakdawala, Neal; Helms, Adam; James, Cynthia A; Gilotra, Nisha A

Case report: cosegregation of a TPM1 in-frame deletion (p.Lys7del) with familial non-compaction cardiomyopathy (NCCM)

病例报告:TPM1 框内缺失 (p.Lys7del) 与家族性致密性心肌病 (NCCM) 的共分离

Hanel, Yvonne; Dittmann, Sven; Müller, Klara; Ioannou, Monica Elena; Schulze-Bahr, Eric

Case Report: Hypertrophic cardiomyopathy with recurrent episodes of ventricular fibrillation and concurrent sinus arrest

病例报告:肥厚型心肌病伴反复发作的室颤和窦性停搏。

Hamidi, Jassin; Winter, Joachim; Weber, Rene; Dittmann, Sven; Schulze-Bahr, Eric

Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility

全基因组关联分析发现了新的布鲁加达综合征风险位点,并揭示了钠通道调控在疾病易感性中的新机制。

Barc, Julien; Tadros, Rafik; Glinge, Charlotte; Chiang, David Y; Jouni, Mariam; Simonet, Floriane; Jurgens, Sean J; Baudic, Manon; Nicastro, Michele; Potet, Franck; Offerhaus, Joost A; Walsh, Roddy; Choi, Seung Hoan; Verkerk, Arie O; Mizusawa, Yuka; Anys, Soraya; Minois, Damien; Arnaud, Marine; Duchateau, Josselin; Wijeyeratne, Yanushi D; Muir, Alison; Papadakis, Michael; Castelletti, Silvia; Torchio, Margherita; Ortuño, Cristina Gil; Lacunza, Javier; Giachino, Daniela F; Cerrato, Natascia; Martins, Raphaël P; Campuzano, Oscar; Van Dooren, Sonia; Thollet, Aurélie; Kyndt, Florence; Mazzanti, Andrea; Clémenty, Nicolas; Bisson, Arnaud; Corveleyn, Anniek; Stallmeyer, Birgit; Dittmann, Sven; Saenen, Johan; Noël, Antoine; Honarbakhsh, Shohreh; Rudic, Boris; Marzak, Halim; Rowe, Matthew K; Federspiel, Claire; Le Page, Sophie; Placide, Leslie; Milhem, Antoine; Barajas-Martinez, Hector; Beckmann, Britt-Maria; Krapels, Ingrid P; Steinfurt, Johannes; Winkel, Bo Gregers; Jabbari, Reza; Shoemaker, Moore B; Boukens, Bas J; Škorić-Milosavljević, Doris; Bikker, Hennie; Manevy, Federico; Lichtner, Peter; Ribasés, Marta; Meitinger, Thomas; Müller-Nurasyid, Martina; Veldink, Jan H; van den Berg, Leonard H; Van Damme, Philip; Cusi, Daniele; Lanzani, Chiara; Rigade, Sidwell; Charpentier, Eric; Baron, Estelle; Bonnaud, Stéphanie; Lecointe, Simon; Donnart, Audrey; Le Marec, Hervé; Chatel, Stéphanie; Karakachoff, Matilde; Bézieau, Stéphane; London, Barry; Tfelt-Hansen, Jacob; Roden, Dan; Odening, Katja E; Cerrone, Marina; Chinitz, Larry A; Volders, Paul G; van de Berg, Maarten P; Laurent, Gabriel; Faivre, Laurence; Antzelevitch, Charles; Kääb, Stefan; Arnaout, Alain Al; Dupuis, Jean-Marc; Pasquie, Jean-Luc; Billon, Olivier; Roberts, Jason D; Jesel, Laurence; Borggrefe, Martin; Lambiase, Pier D; Mansourati, Jacques; Loeys, Bart; Leenhardt, Antoine; Guicheney, Pascale; Maury, Philippe; Schulze-Bahr, Eric; Robyns, Tomas; Breckpot, Jeroen; Babuty, Dominique; Priori, Silvia G; Napolitano, Carlo; de Asmundis, Carlo; Brugada, Pedro; Brugada, Ramon; Arbelo, Elena; Brugada, Josep; Mabo, Philippe; Behar, Nathalie; Giustetto, Carla; Molina, Maria Sabater; Gimeno, Juan R; Hasdemir, Can; Schwartz, Peter J; Crotti, Lia; McKeown, Pascal P; Sharma, Sanjay; Behr, Elijah R; Haissaguerre, Michel; Sacher, Frédéric; Rooryck, Caroline; Tan, Hanno L; Remme, Carol A; Postema, Pieter G; Delmar, Mario; Ellinor, Patrick T; Lubitz, Steven A; Gourraud, Jean-Baptiste; Tanck, Michael W; George, Alfred L Jr; MacRae, Calum A; Burridge, Paul W; Dina, Christian; Probst, Vincent; Wilde, Arthur A; Schott, Jean-Jacques; Redon, Richard; Bezzina, Connie R

Whole Exome Sequencing Identifies a Heterozygous Variant in the Cav1.3 Gene CACNA1D Associated with Familial Sinus Node Dysfunction and Focal Idiopathic Epilepsy

全外显子组测序发现Cav1.3基因CACNA1D中的杂合变异与家族性窦房结功能障碍和局灶性特发性癫痫相关

Rinné, Susanne; Stallmeyer, Birgit; Pinggera, Alexandra; Netter, Michael F; Matschke, Lina A; Dittmann, Sven; Kirchhefer, Uwe; Neudorf, Ulrich; Opp, Joachim; Striessnig, Jörg; Decher, Niels; Schulze-Bahr, Eric

Detection of Patients with Congenital and Often Concealed Long-QT Syndrome by Novel Deep Learning Models

利用新型深度学习模型检测先天性和隐匿性长QT间期综合征患者

Doldi, Florian; Plagwitz, Lucas; Hoffmann, Lea Philine; Rath, Benjamin; Frommeyer, Gerrit; Reinke, Florian; Leitz, Patrick; Büscher, Antonius; Güner, Fatih; Brix, Tobias; Wegner, Felix Konrad; Willy, Kevin; Hanel, Yvonne; Dittmann, Sven; Haverkamp, Wilhelm; Schulze-Bahr, Eric; Varghese, Julian; Eckardt, Lars