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

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

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

Loss-of-function variants in K(v) 11.1 cardiac channels as a biomarker for SUDEP

K(v)11.1心脏通道功能缺失变异体作为SUDEP的生物标志物

Soh, Ming S; Bagnall, Richard D; Bennett, Mark F; Bleakley, Lauren E; Mohamed Syazwan, Erlina S; Phillips, A Marie; Chiam, Mathew D F; McKenzie, Chaseley E; Hildebrand, Michael; Crompton, Douglas; Bahlo, Melanie; Semsarian, Christopher; Scheffer, Ingrid E; Berkovic, Samuel F; Reid, Christopher A

Development of a rapid functional assay that predicts GLUT1 disease severity

开发一种能够预测GLUT1疾病严重程度的快速功能检测方法

Zaman, Sasha M; Mullen, Saul A; Petrovski, Slavé; Maljevic, Snezana; Gazina, Elena V; Phillips, A Marie; Jones, Gabriel Davis; Hildebrand, Michael S; Damiano, John; Auvin, Stéphane; Lerche, Holger; Weber, Yvonne G; Berkovic, Samuel F; Scheffer, Ingrid E; Reid, Christopher A; Petrou, Steven

Loss of synaptic Zn2+ transporter function increases risk of febrile seizures.

突触锌离子转运蛋白功能丧失会增加热性惊厥的风险

Hildebrand Michael S, Phillips A Marie, Mullen Saul A, Adlard Paul A, Hardies Katia, Damiano John A, Wimmer Verena, Bellows Susannah T, McMahon Jacinta M, Burgess Rosemary, Hendrickx Rik, Weckhuysen Sarah, Suls Arvid, De Jonghe Peter, Scheffer Ingrid E, Petrou Steven, Berkovic Samuel F, Reid Christopher A

Multiple molecular mechanisms for a single GABAA mutation in epilepsy

单个GABAA基因突变导致癫痫的多种分子机制

Reid, Christopher A; Kim, Taehwan; Phillips, A Marie; Low, Jun; Berkovic, Samuel F; Luscher, Bernhard; Petrou, Steven

HCN channelopathies: pathophysiology in genetic epilepsy and therapeutic implications

HCN通道病:遗传性癫痫的病理生理学及治疗意义

Reid, Christopher A; Phillips, A Marie; Petrou, Steven

Molecular and genetic characterization of the interactions between the Drosophila stoned-B protein and DAP-160 (intersectin)

果蝇 stoned-B 蛋白与 DAP-160 (intersectin) 相互作用的分子和遗传特征

Kelly, Leonard E; Phillips, A Marie