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

First multicenter real-world analysis of switching to next-generation enzyme replacement therapies in late-onset Pompe disease

首个针对晚发型庞贝病患者改用下一代酶替代疗法的多中心真实世界分析

Mendelsohn, Daniel H; Rosenbohm, Angela; Güttsches, Anne-Katrin; Kornblum, Cornelia; Knop, Karl Christian; Fangerau, Tanja; Nguyen-Younossi, Nam; Shahyrova, Guljan; Garcia-Angarita, Natalia; Schoser, Benedikt; Wenninger, Stephan

EAN 2024 Guideline on the Diagnostic Approach to Oligo/Asymptomatic HyperCKemia

EAN 2024 少症状/无症状高肌酸激酶血症诊断方法指南

Kyriakides, T; Aleksovska, K; Angelini, C; Argov, Z; Claeys, K G; de Visser, M; FIlosto, M; Jovanovic, I; Kostera-Pruszczyk, A; Molnar, M J; Sacconi, S; Schaefer, J; Siciliano, G; Vilchez, J J; Schoser, B; Toscano, A

The Diverse Neuromuscular Spectrum of VPS13A Disease

VPS13A疾病的多样化神经肌肉谱

Buchberger, Anne; Riedel, Evamaria; Hackenberg, Marie; Mensch, Alexander; Beck-Woedl, Stefanie; Park, Joohyun; Haack, Tobias B; Haslinger, Bernhard; Kirschke, Jan; Prokisch, Holger; Hermann, Andreas; Mawrin, Christian; Danek, Adrian; Schoser, Benedikt; Peikert, Kevin; Deschauer, Marcus; Cordts, Isabell

GMPPB-CDG Results in Lysosomal Dysfunction and Acid Alpha-Glucosidase Deficiency.

GMPPB-CDG 导致溶酶体功能障碍和酸性α-葡萄糖苷酶缺乏。

Damiano Carla, Tarallo Antonietta, Gragnaniello Vincenza, Strollo Sandra, Fecarotta Simona, Tuzzi M Rosaria, Polishchuk Elena, Montefusco Sandro, Valanzano Anna, Assunto Antonia, Minopoli Nadia, Casa Roberto Della, Polishchuk Roman, Groen Stijn L M In 't, Medina Diego Luis, Bertini Enrico, Carrozzo Rosalba, Emmerich Julia, Schoser Benedikt, Pijnappel W W M Pim, Parenti Giancarlo

Patient Perspectives on Late-Onset Pompe Disease: Insights From a 2025 Patient Snapshot Survey on Diagnosis, Treatment, and Quality of Life

患者对晚发型庞贝病的看法:来自2025年患者调查(关于诊断、治疗和生活质量)的见解

Gallarda, Benjamin W; Leslie, Ross A; Oyedepo, Felicia; Almeida, Claire; Ampeh, Kevin; Gonzalez, Guiomar; Schoser, Benedikt

Miglustat: a first-in-class enzyme stabilizer for cipaglucosidase alfa for the treatment of late-onset Pompe disease

米格鲁司他:一种用于治疗晚发型庞贝病的西帕葡萄糖苷酶α的首创酶稳定剂

Hopkin, Robert J; Byrne, Barry J; Dimachkie, Mazen M; Kishnani, Priya S; Mozaffar, Tahseen; Roberts, Mark; Schoser, Benedikt; van der Beek, Nadine A M E; van der Ploeg, Ans T; Wenninger, Stephan; Brudvig, Jon; Fox, Brian; Holdbrook, Fred; Jain, Vipul; Johnson, Franklin; Zhang, Jennifer; Parenti, Giancarlo

A roadmap for a patient-centred approach to Pompe disease management

以患者为中心的庞贝病管理方法路线图

Schoser, Benedikt; Domínguez-González, Cristina; Laforet, Pascal; Hahn, Andreas; Gissen, Paul; Kostera-Pruszczyk, Anna; Thalmeier, Andreas; Vissing, John

Increased ectodysplasin-A2-receptor EDA2R is a ubiquitous hallmark of aging and mediates parainflammatory responses

细胞外增生异常蛋白 A2 受体 EDA2R 增多是衰老的普遍标志,可介导副炎症反应

Maria Chiara Barbera #, Luca Guarrera #, Andrea David Re Cecconi #, Giada Andrea Cassanmagnago, Arianna Vallerga, Martina Lunardi, Francesca Checchi, Laura Di Rito, Margherita Romeo, Sarah Natalia Mapelli, Benedikt Schoser, Edward V Generozov; Molecular Genetics Group; Rick Jansen, Eco J C de Geus, 

Complement profiling of sural nerves in chronic-inflammatory demyelinating polyneuropathy

慢性炎症性脱髓鞘性多发性神经病患者腓肠神经的补体谱分析

Stascheit, Frauke; Roos, Andreas; Schroeter, Christina B; Thomas, Johanna Katrin; Hahn, Katrin; Preßler, Hannah; Hentschel, Andreas; Schlotter-Weigel, Beate; Schoser, Benedikt; Ruck, Tobias; Meisel, Andreas; Stenzel, Werner; Preusse, Corinna

Elevated Levels of Active GSK3β in the Blood of Patients with Myotonic Dystrophy Type 1 Correlate with Muscle Weakness

1型强直性肌营养不良症患者血液中活性GSK3β水平升高与肌肉无力相关

Jennings, Katherine; Tian, Cuixia; Brown, Rebeccah L; Horn, Paul S; Schoser, Benedikt; Kushlaf, Hani; Timchenko, Nikolai A; Timchenko, Lubov