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

Pathophysiology of homocysteine: insights into ion channel dysfunction

同型半胱氨酸的病理生理学:离子通道功能障碍的深入研究

Chmúrčiaková, Nikola; Stringer, Robin N; Cmarko, Leoš; Filipova, Alzbeta; Lacinova, Lubica; Weiss, Norbert

Electrophysiological characterization of sourced human iPSC-derived motor neurons.

人诱导多能干细胞衍生运动神经元的电生理特性分析

Jurkovicova-Tarabova Bohumila, Stringer Robin N, Sevcikova Tomaskova Zuzana, Weiss Norbert

Functional characterization of a novel de novo CACNA1C pathogenic variant in a patient with neurodevelopmental disorder

对一名患有神经发育障碍的患者中新发现的 CACNA1C 致病变异进行功能表征

Stringer, Robin N; Tang, Xuechen; Jurkovicova-Tarabova, Bohumila; Murphy, Mary; Liedl, Klaus R; Weiss, Norbert

Homocysteine enhances the excitability of cultured hippocampal neurons without altering the gene expression of voltage-gated ion channels

同型半胱氨酸可增强培养的海马神经元的兴奋性,而不改变电压门控离子通道的基因表达。

Filipova, Alzbeta; Tomko, Matus; Ondacova, Katarina; Dubiel-Hoppanova, Lucia; Chmúrčiaková, Nikola; Cmarko, Leoš; Stringer, Robin N; Weiss, Norbert; Lacinova, Lubica

Electrophysiological characterization of a Ca(v)3.2 calcium channel missense variant associated with epilepsy and hearing loss

对与癫痫和听力损失相关的Ca(v)3.2钙通道错义变异进行电生理学表征

Stringer, Robin N; Cmarko, Leos; Zamponi, Gerald W; De Waard, Michel; Weiss, Norbert

Pathophysiology of ion channels in amyotrophic lateral sclerosis

肌萎缩侧索硬化症中离子通道的病理生理学

Stringer, Robin N; Weiss, Norbert

Secretory carrier-associated membrane protein 2 (SCAMP2) regulates cell surface expression of T-type calcium channels

分泌载体相关膜蛋白2 (SCAMP2) 调节T型钙通道的细胞表面表达

Cmarko, Leos; Stringer, Robin N; Jurkovicova-Tarabova, Bohumila; Vacik, Tomas; Lacinova, Lubica; Weiss, Norbert

Electrophysiological and computational analysis of Ca(v)3.2 channel variants associated with familial trigeminal neuralgia

对与家族性三叉神经痛相关的Ca(v)3.2通道变异体的电生理和计算分析

Mustafá, Emilio R; Gambeta, Eder; Stringer, Robin N; Souza, Ivana A; Zamponi, Gerald W; Weiss, Norbert

De novo SCN8A and inherited rare CACNA1H variants associated with severe developmental and epileptic encephalopathy

新发 SCN8A 和遗传性罕见 CACNA1H 变异与严重发育性和癫痫性脑病相关

Stringer, Robin N; Jurkovicova-Tarabova, Bohumila; Souza, Ivana A; Ibrahim, Judy; Vacik, Tomas; Fathalla, Waseem Mahmoud; Hertecant, Jozef; Zamponi, Gerald W; Lacinova, Lubica; Weiss, Norbert

A rare CACNA1H variant associated with amyotrophic lateral sclerosis causes complete loss of Ca(v)3.2 T-type channel activity

一种与肌萎缩侧索硬化症相关的罕见 CACNA1H 变异会导致 Ca(v)3.2 T 型通道活性完全丧失

Stringer, Robin N; Jurkovicova-Tarabova, Bohumila; Huang, Sun; Haji-Ghassemi, Omid; Idoux, Romane; Liashenko, Anna; Souza, Ivana A; Rzhepetskyy, Yuriy; Lacinova, Lubica; Van Petegem, Filip; Zamponi, Gerald W; Pamphlett, Roger; Weiss, Norbert