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

CaMKIIβ deregulation contributes to neuromuscular junction destabilization in Myotonic Dystrophy type I

CaMKIIβ失调导致I型强直性肌营养不良症中神经肌肉接头不稳定。

Falcetta, Denis; Quirim, Sandrine; Cocchiararo, Ilaria; Chabry, Florent; Théodore, Marine; Stiefvater, Adeline; Lin, Shuo; Tintignac, Lionel; Ivanek, Robert; Kinter, Jochen; Rüegg, Markus A; Sinnreich, Michael; Castets, Perrine

DNA aptamers against the DUX4 protein reveal novel therapeutic implications for FSHD.

针对 DUX4 蛋白的 DNA 适体揭示了 FSHD 的新型治疗意义

Klingler Christian, Ashley Jon, Shi Ke, Stiefvater Adeline, Kyba Michael, Sinnreich Michael, Aihara Hideki, Kinter Jochen

Proteasomal inhibition restores biological function of mis-sense mutated dysferlin in patient-derived muscle cells

蛋白酶体抑制可恢复患者来源肌肉细胞中错义突变dysferlin的生物学功能

Azakir, Bilal A; Di Fulvio, Sabrina; Kinter, Jochen; Sinnreich, Michael

An essential role of MAG in mediating axon-myelin attachment in Charcot-Marie-Tooth 1A disease.

MAG 在 Charcot-Marie-Tooth 病 1A 型中介导轴突-髓鞘连接起着至关重要的作用

Kinter Jochen, Lazzati Thomas, Schmid Daniela, Zeis Thomas, Erne Beat, Lützelschwab Roland, Steck Andreas J, Pareyson Davide, Peles Elior, Schaeren-Wiemers Nicole

Accumulation of mutant neuroserpin precedes development of clinical symptoms in familial encephalopathy with neuroserpin inclusion bodies

在伴有神经丝氨酸包涵体的家族性脑病中,突变神经丝氨酸的积累先于临床症状的出现。

Galliciotti, Giovanna; Glatzel, Markus; Kinter, Jochen; Kozlov, Serguei V; Cinelli, Paolo; Rülicke, Thomas; Sonderegger, Peter