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

In vitro analysis of arrhythmogenic cardiomyopathy associated desmoglein-2 (DSG2) mutations reveals diverse glycosylation patterns

致心律失常性心肌病相关桥粒芯蛋白-2 (DSG2) 突变的体外分析揭示了多种糖基化模式

Jana Davina Debus, Hendrik Milting, Andreas Brodehl, Astrid Kassner, Dario Anselmetti, Jan Gummert, Anna Gaertner-Rommel

Molecular autopsy and family screening in a young case of sudden cardiac death reveals an unusually severe case of FHL1 related hypertrophic cardiomyopathy

对一例年轻心脏性猝死病例进行分子尸检和家族筛查,发现其患有异常严重的 FHL1 相关肥厚性心肌病

Anna Gaertner-Rommel, Jens Tiesmeier, Thomas Jakob, Bernd Strickmann, Gunter Veit, Bernd Bachmann-Mennenga, Lech Paluszkiewicz, Karin Klingel, Uwe Schulz, Kai T Laser, Bernd Karger, Heidi Pfeiffer, Hendrik Milting

Molecular insights into cardiomyopathies associated with desmin (DES) mutations

从分子层面深入了解与结蛋白(DES)突变相关的心肌病

Brodehl, Andreas; Gaertner-Rommel, Anna; Milting, Hendrik

A novel desmin (DES) indel mutation causes severe atypical cardiomyopathy in combination with atrioventricular block and skeletal myopathy

一种新型的结蛋白(DES)插入/缺失突变会导致严重的非典型心肌病,并伴有房室传导阻滞和骨骼肌病。

Schirmer, Ilona; Dieding, Mareike; Klauke, Bärbel; Brodehl, Andreas; Gaertner-Rommel, Anna; Walhorn, Volker; Gummert, Jan; Schulz, Uwe; Paluszkiewicz, Lech; Anselmetti, Dario; Milting, Hendrik

Arrhythmogenic cardiomyopathy related DSG2 mutations affect desmosomal cadherin binding kinetics

心律失常性心肌病相关的 DSG2 突变影响桥粒钙粘蛋白结合动力学

Mareike Dieding, Jana Davina Debus, Raimund Kerkhoff, Anna Gaertner-Rommel, Volker Walhorn, Hendrik Milting, Dario Anselmetti

High proportion of genetic cases in patients with advanced cardiomyopathy including a novel homozygous Plakophilin 2-gene mutation

晚期心肌病患者中遗传病例比例较高,包括一种新的纯合子Plakophilin 2基因突变。

Klauke, Baerbel; Gaertner-Rommel, Anna; Schulz, Uwe; Kassner, Astrid; Zu Knyphausen, Edzard; Laser, Thorsten; Kececioglu, Deniz; Paluszkiewicz, Lech; Blanz, Ute; Sandica, Eugen; van den Bogaerdt, Antoon J; van Tintelen, J Peter; Gummert, Jan; Milting, Hendrik