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

Dose escalation pre-clinical trial of novel DOK7-AAV in mouse model of DOK7 congenital myasthenia

新型 DOK7-AAV 在 DOK7 先天性肌无力小鼠模型中的剂量递增临床前试验

Judith Cossins, Imre Kozma, Claudia Canzonetta, Al Hawkins, David Beeson, Patricio Sepulveda, Yin Yao Dong

Myasthenia gravis AChR antibodies inhibit function of rapsyn-clustered AChRs

重症肌无力 AChR 抗体抑制 rapsyn 聚集 AChR 的功能

Hakan Cetin, Richard Webster, Wei Wei Liu, Akiko Nagaishi, Inga Koneczny, Fritz Zimprich, Susan Maxwell, Judith Cossins, David Beeson, Angela Vincent

Congenital myasthenic syndrome due to mutations in MUSK suggests that the level of MuSK phosphorylation is crucial for governing synaptic structure

先天性肌无力综合征是由MUSK基因突变引起的,这表明MuSK磷酸化水平对于调控突触结构至关重要。

Pedro M Rodríguez Cruz ,Judith Cossins ,Jonathan Cheung ,Susan Maxwell ,Sandeep Jayawant ,Ruth Herbst ,Dominic Waithe ,Alexandr P Kornev ,Jacqueline Palace ,David Beeson

β2-Adrenergic receptor agonists ameliorate the adverse effect of long-term pyridostigmine on neuromuscular junction structure

β2-肾上腺素受体激动剂可改善长期服用吡啶斯的明对神经肌肉接头结构的不良影响

An E Vanhaesebrouck, Richard Webster, Susan Maxwell, Pedro M Rodriguez Cruz, Judith Cossins, James Wickens, Wei-Wei Liu, Hakan Cetin, Jonathan Cheung, Hayley Ramjattan, Jacqueline Palace, David Beeson

SHP2 inhibitor protects AChRs from effects of myasthenia gravis MuSK antibody

SHP2 抑制剂保护 AChR 免受重症肌无力 MuSK 抗体的影响

Saif Huda, Michelangelo Cao, Anna De Rosa, Mark Woodhall, Pedro M Rodriguez Cruz, Judith Cossins, Michelangelo Maestri, Roberta Ricciardi, Amelia Evoli, David Beeson, Angela Vincent

Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular Transmission

线粒体柠檬酸载体 SLC25A1 突变与神经肌肉传递受损有关

Amina Chaouch, Vito Porcelli, Daniel Cox, Shimon Edvardson, Pasquale Scarcia, Anna De Grassi, Ciro L Pierri, Judith Cossins, Steven H Laval, Helen Griffin, Juliane S Müller, Teresinha Evangelista, Ana Töpf, Angela Abicht, Angela Huebner, Maja von der Hagen, Kate Bushby, Volker Straub, Rita Horvath, 

Congenital myasthenic syndromes due to mutations in ALG2 and ALG14

由于 ALG2 和 ALG14 突变导致的先天性肌无力综合征

Judith Cossins, Katsiaryna Belaya, Debbie Hicks, Mustafa A Salih, Sarah Finlayson, Nicola Carboni, Wei Wei Liu, Susan Maxwell, Katarzyna Zoltowska, Golara Torabi Farsani, Steven Laval, Mohammed Zain Seidhamed; WGS500 Consortium; Peter Donnelly, David Bentley, Simon J McGowan, Juliane Müller, Jacquel

MuSK myasthenia gravis IgG4 disrupts the interaction of LRP4 with MuSK but both IgG4 and IgG1-3 can disperse preformed agrin-independent AChR clusters

MuSK 重症肌无力 IgG4 破坏了 LRP4 与 MuSK 的相互作用,但 IgG4 和 IgG1-3 均能分散预先形成的不依赖 AChR 簇

Inga Koneczny, Judith Cossins, Patrick Waters, David Beeson, Angela Vincent