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

The Role of Loss-of-Function KCNH2 Variants in Cardiac Arrhythmias, Seizures and the Risk of Sudden Unexpected Death in Epilepsy

KCNH2 功能丧失变异体在心律失常、癫痫发作和癫痫猝死风险中的作用

Lee, Hian M; Gan, Xue N; Aung, Khaing Phyu; Forster, Ian C; Reid, Christopher A; Soh, Ming S

HCN2-Associated Neurodevelopmental Disorders: Data from Patients and Xenopus Cell Models.

HCN2 相关神经发育障碍:来自患者和非洲爪蟾细胞模型的数据

Houdayer Clara, Phillips A Marie, Chabbert Marie, Bourreau Jennifer, Maroofian Reza, Houlden Henry, Richards Kay, Saadi Nebal Waill, Dad'ová Eliška, Van Bogaert Patrick, Rupin Mailys, Keren Boris, Charles Perrine, Smol Thomas, Riquet Audrey, Pais Lynn, O'Donnell-Luria Anne, VanNoy Grace E, Bayat Allan, Møller Rikke S, Olofsson Kern, Jamra Rami Abou, Syrbe Steffen, Dasouki Majed, Seaver Laurie H, Sullivan Jennifer A, Shashi Vandana, Alkuraya Fowzan S, Poss Alexis F, Spence J Edward, Schnur Rhonda E, Forster Ian C, Mckenzie Chaseley E, Simons Cas, Wang Min, Snell Penny, Kothur Kavitha, Buckley Michael, Roscioli Tony, Elserafy Noha, Dauriat Benjamin, Procaccio Vincent, Henrion Daniel, Lenaers Guy, Colin Estelle, Verbeek Nienke E, Van Gassen Koen L, Legendre Claire, Bonneau Dominique, Reid Christopher A, Howell Katherine B, Ziegler Alban, Legros Christian

Different fluorescent labels report distinct components of spHCN channel voltage sensor movement

不同的荧光标记物可以反映 spHCN 通道电压传感器运动的不同组成部分。

Wojciechowski, Magdalena N; McKenzie, Chaseley E; Hung, Andrew; Kuanyshbek, Alibek; Soh, Ming S; Reid, Christopher A; Forster, Ian C

Cation leak: a common functional defect causing HCN1 developmental and epileptic encephalopathy

阳离子泄漏:一种常见的导致HCN1发育性和癫痫性脑病的致病功能缺陷

McKenzie, Chaseley E; Forster, Ian C; Soh, Ming S; Phillips, A Marie; Bleakley, Lauren E; Russ-Hall, Sophie J; Myers, Kenneth A; Scheffer, Ingrid E; Reid, Christopher A

Impaired Color Recognition in HCN1 Epilepsy: A Single Case Report

HCN1型癫痫患者颜色识别障碍:一例病例报告

Mckenzie, Chaseley E; Ho, Chen-Jui; Forster, Ian C; Soh, Ming S; Phillips, A Marie; Chang, Ying-Chao; Scheffer, Ingrid E; Reid, Christopher A; Tsai, Meng-Han

Cation leak underlies neuronal excitability in an HCN1 developmental and epileptic encephalopathy

阳离子泄漏是HCN1发育性和癫痫性脑病中神经元兴奋性的基础。

Bleakley, Lauren E; McKenzie, Chaseley E; Soh, Ming S; Forster, Ian C; Pinares-Garcia, Paulo; Sedo, Alicia; Kathirvel, Anirudh; Churilov, Leonid; Jancovski, Nikola; Maljevic, Snezana; Berkovic, Samuel F; Scheffer, Ingrid E; Petrou, Steven; Santoro, Bina; Reid, Christopher A

Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia

编码钠-磷酸盐共转运蛋白2A的SLC34A1基因的常染色体隐性突变导致特发性婴儿高钙血症

Schlingmann, Karl P; Ruminska, Justyna; Kaufmann, Martin; Dursun, Ismail; Patti, Monica; Kranz, Birgitta; Pronicka, Ewa; Ciara, Elzbieta; Akcay, Teoman; Bulus, Derya; Cornelissen, Elisabeth A M; Gawlik, Aneta; Sikora, Przemysław; Patzer, Ludwig; Galiano, Matthias; Boyadzhiev, Veselin; Dumic, Miroslav; Vivante, Asaf; Kleta, Robert; Dekel, Benjamin; Levtchenko, Elena; Bindels, René J; Rust, Stephan; Forster, Ian C; Hernando, Nati; Jones, Glenville; Wagner, Carsten A; Konrad, Martin

Cation Interactions and Membrane Potential Induce Conformational Changes in NaPi-IIb

阳离子相互作用和膜电位诱导NaPi-IIb的构象变化

Patti, Monica; Fenollar-Ferrer, Cristina; Werner, Andreas; Forrest, Lucy R; Forster, Ian C

Structural fold and binding sites of the human Na⁺-phosphate cotransporter NaPi-II

人钠-磷酸盐共转运蛋白NaPi-II的结构折叠和结合位点

Fenollar-Ferrer, Cristina; Patti, Monica; Knöpfel, Thomas; Werner, Andreas; Forster, Ian C; Forrest, Lucy R

Correlating charge movements with local conformational changes of a Na(+)-coupled cotransporter

将电荷移动与钠离子偶联共转运蛋白的局部构象变化联系起来

Patti, Monica; Forster, Ian C