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

CALM1, CALM2, and CALM3 expression and translation efficiency provide insight into the severity of calmodulinopathy

CALM1、CALM2 和 CALM3 的表达和翻译效率可反映钙调蛋白病的严重程度。

Christiansen, Steffan Noe Niikanoff; Jacobsen, Stine Bøttcher; Andersen, Jeppe Dyrberg; Cui, Ya; Li, Wei; Staehr, Christian; Andersen, Mikkel Meyer; Crotti, Lia; Spazzolini, Carla; Schwartz, Peter J; Nyegaard, Mette; Overgaard, Michael Toft

Initial investigations into single nucleotide polymorphisms and their association with QTc and left ventricular function in peripartum cardiomyopathy

对单核苷酸多态性及其与围产期心肌病QTc间期和左心室功能相关性的初步研究

Shaboodien, Gasnat; Viljoen, Charle; Ndibangwi, Polycarp; Hoevelmann, Julian; Pearce, Lameez; Haidari, Susanna; Torchio, Margherita; Dagradi, Federica; Spazzolini, Carla; Kraus, Sarah; Ntusi, Ntobeko A B; Schwartz, Peter J; Sliwa, Karen

TP-fusion at peak exercise: a novel marker for the recognition of unsuspected long QT syndrome patients

运动峰值时的TP融合:一种用于识别未被发现的长QT综合征患者的新型标志物

Boeri, Carlo; Sarto, Patrizio; Cerea, Paolo; Crotti, Lia; Dagradi, Federica; Giovenzana, Fulvio L F; Alberio, Chiara; Meneguzzo, Giulia; Lucini, Daniela; Musu, Giulia; Spazzolini, Carla; Schwartz, Peter J

Multiplexed Assays of Variant Effect and Automated Patch Clamping Improve KCNH2-LQTS Variant Classification and Cardiac Event Risk Stratification

多重变异效应检测和自动化膜片钳技术可提高KCNH2-LQTS变异分类和心脏事件风险分层能力

O'Neill, Matthew J; Ng, Chai-Ann; Aizawa, Takanori; Sala, Luca; Bains, Sahej; Winbo, Annika; Ullah, Rizwan; Shen, Qianyi; Tan, Chek-Ying; Kozek, Krystian; Vanags, Loren R; Mitchell, Devyn W; Shen, Alex; Wada, Yuko; Kashiwa, Asami; Crotti, Lia; Dagradi, Federica; Musu, Giulia; Spazzolini, Carla; Neves, Raquel; Bos, J Martijn; Giudicessi, John R; Bledsoe, Xavier; Gamazon, Eric R; Lancaster, Megan C; Glazer, Andrew M; Knollmann, Bjorn C; Roden, Dan M; Weile, Jochen; Roth, Frederick; Salem, Joe-Elie; Earle, Nikki; Stiles, Rachael; Agee, Taylor; Johnson, Christopher N; Horie, Minoru; Skinner, Jonathan R; Ackerman, Michael J; Schwartz, Peter J; Ohno, Seiko; Vandenberg, Jamie I; Kroncke, Brett M

Long QT syndrome: importance of reassessing arrhythmic risk after treatment initiation

长QT间期综合征:治疗开始后重新评估心律失常风险的重要性

Dusi, Veronica; Dagradi, Federica; Spazzolini, Carla; Crotti, Lia; Cerea, Paolo; Giovenzana, Fulvio L F; Musu, Giulia; Pedrazzini, Matteo; Torchio, Margherita; Schwartz, Peter J

Clinical presentation of calmodulin mutations: the International Calmodulinopathy Registry

钙调蛋白突变的临床表现:国际钙调蛋白病注册研究

Crotti, Lia; Spazzolini, Carla; Nyegaard, Mette; Overgaard, Michael T; Kotta, Maria-Christina; Dagradi, Federica; Sala, Luca; Aiba, Takeshi; Ayers, Mark D; Baban, Anwar; Barc, Julien; Beach, Cheyenne M; Behr, Elijah R; Bos, J Martijn; Cerrone, Marina; Covi, Peter; Cuneo, Bettina; Denjoy, Isabelle; Donner, Birgit; Elbert, Adrienne; Eliasson, Håkan; Etheridge, Susan P; Fukuyama, Megumi; Girolami, Francesca; Hamilton, Robert; Horie, Minoru; Iascone, Maria; Jiménez-Jaimez, Juan; Jensen, Henrik Kjærulf; Kannankeril, Prince J; Kaski, Juan P; Makita, Naomasa; Muñoz-Esparza, Carmen; Odland, Hans H; Ohno, Seiko; Papagiannis, John; Porretta, Alessandra Pia; Prandstetter, Christopher; Probst, Vincent; Robyns, Tomas; Rosenthal, Eric; Rosés-Noguer, Ferran; Sekarski, Nicole; Singh, Anoop; Spentzou, Georgia; Stute, Fridrike; Tfelt-Hansen, Jacob; Till, Jan; Tobert, Kathryn E; Vinocur, Jeffrey M; Webster, Gregory; Wilde, Arthur A M; Wolf, Cordula M; Ackerman, Michael J; Schwartz, Peter J

Effects of cohort, genotype, variant, and maternal β-blocker treatment on foetal heart rate predictors of inherited long QT syndrome

队列、基因型、变异以及母体β受体阻滞剂治疗对遗传性长QT综合征胎儿心率预测因子的影响

Kaizer, Alexander M; Winbo, Annika; Clur, Sally-Ann B; Etheridge, Susan P; Ackerman, Michael J; Horigome, Hitoshi; Herberg, Ulrike; Dagradi, Federica; Spazzolini, Carla; Killen, Stacy A S; Wacker-Gussmann, Annette; Wilde, Arthur A M; Sinkovskaya, Elena; Abuhamad, Alfred; Torchio, Margherita; Ng, Chai-Ann; Rydberg, Annika; Schwartz, Peter J; Cuneo, Bettina F

Continuous Bayesian variant interpretation accounts for incomplete penetrance among Mendelian cardiac channelopathies

连续贝叶斯变异解释解释了孟德尔心脏离子通道病的不完全外显率

O'Neill, Matthew J; Sala, Luca; Denjoy, Isabelle; Wada, Yuko; Kozek, Krystian; Crotti, Lia; Dagradi, Federica; Kotta, Maria-Christina; Spazzolini, Carla; Leenhardt, Antoine; Salem, Joe-Elie; Kashiwa, Asami; Ohno, Seiko; Tao, Ran; Roden, Dan M; Horie, Minoru; Extramiana, Fabrice; Schwartz, Peter J; Kroncke, Brett M

Mutation location and IKs regulation in the arrhythmic risk of long QT syndrome type 1: the importance of the KCNQ1 S6 region

长QT综合征1型心律失常风险中的突变位点和IKs调控:KCNQ1 S6区的重要性

Schwartz, Peter J; Moreno, Cristina; Kotta, Maria-Christina; Pedrazzini, Matteo; Crotti, Lia; Dagradi, Federica; Castelletti, Silvia; Haugaa, Kristina H; Denjoy, Isabelle; Shkolnikova, Maria A; Brink, Paul A; Heradien, Marshall J; Seyen, Sandrine R M; Spätjens, Roel L H M G; Spazzolini, Carla; Volders, Paul G A

Estimating the Posttest Probability of Long QT Syndrome Diagnosis for Rare KCNH2 Variants

估计罕见KCNH2变异体患长QT综合征的后验概率

Kozek, Krystian; Wada, Yuko; Sala, Luca; Denjoy, Isabelle; Egly, Christian; O'Neill, Matthew J; Aiba, Takeshi; Shimizu, Wataru; Makita, Naomasa; Ishikawa, Taisuke; Crotti, Lia; Spazzolini, Carla; Kotta, Maria-Christina; Dagradi, Federica; Castelletti, Silvia; Pedrazzini, Matteo; Gnecchi, Massimiliano; Leenhardt, Antoine; Salem, Joe-Elie; Ohno, Seiko; Zuo, Yi; Glazer, Andrew M; Mosley, Jonathan D; Roden, Dan M; Knollmann, Bjorn C; Blume, Jeffrey D; Extramiana, Fabrice; Schwartz, Peter J; Horie, Minoru; Kroncke, Brett M