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

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

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

Disease spectrum and long-term prognosis of patients with BAG3-associated neuromuscular diseases in Europe

欧洲BAG3相关神经肌肉疾病患者的疾病谱和长期预后

Fernández-Eulate, Gorka; Gitiaux, Cyril; Thiele, Simone; Jungbluth, Heinz; Potulska-Chromik, Anna; Marini-Bettolo, Chiara; Davion, Jean Baptiste; Morís, Germán; Gallardo, Eduard; Olivé, Montse; de Fuenmayor-Fernández de la Hoz, Carlos Pablo; Audic, Frederique; Isapof, Arnaud; Walter, Maggie C; Angelini, Corrado; Bertini, Enrico; Schara-Schmidt, Ulrike; Claeys, Kristl G; Dohrn, Maike F; Dembele, Mohamed; Fer, Frédéric; Brochier, Guy; Evangelista, Teresinha; Kostera-Pruszczyk, Anna; Attarian, Shahram; Straub, Volker; Domínguez-González, Cristina; Vissing, John; Richard, Pascale; Metay, Corinne; Khraiche, Diala; Wahbi, Karim; Stojkovic, Tanya

Sustainable Hydrogen Production by Glycerol and Monosaccharides Catalytic Acceptorless Dehydrogenation (AD) in Homogeneous Phase

利用甘油和单糖在均相中催化无受体脱氢(AD)可持续制氢

Kostera, Sylwia; Gonsalvi, Luca

Efficacy and safety of avalglucosidase alfa in patients with late-onset Pompe disease after 145 weeks of treatment during the COMET trial

COMET试验中,经过145周的治疗,评估了阿伐葡萄糖苷酶α对晚发型庞贝病患者的疗效和安全性。

Kishnani, Priya S; Díaz-Manera, Jordi; Illarioshkin, Sergey; van der Ploeg, Ans T; Clemens, Paula R; Day, John W; Toscano, Antonio; Kushlaf, Hani; Ladha, Shafeeq; Attarian, Shahram; Carvalho, Gerson; Kostera-Pruszczyk, Anna; Erdem-Özdamar, Sevim; Goker-Alpan, Ozlem; Mozaffar, Tahseen; Straub, Volker; Roberts, Mark; Haack, Kristina An; Huynh-Ba, Olivier; Tammireddy, Swathi; Periquet, Magali; Thibault, Nathan; Zhou, Tianyue; Dimachkie, Mazen M; Schoser, Benedikt

What Are the Normal Serum Creatine Kinase Values for Skeletal Muscle? A Worldwide Systematic Review

骨骼肌正常血清肌酸激酶值是多少?一项全球系统性综述

Aleksovska, Katina; Kyriakides, Theodoros; Angelini, Corrado; Argov, Zohar; Claeys, Kristl G; de Visser, Marianne; Filosto, Massimiliano; Jovanovic, Ivanka; Kostera-Pruszczyk, Anna; Molnar, Maria Julia; Sacconi, Sabrina; Schaefer, Jochen; Siciliano, Gabriele; Vilchez, Juan J; Toscano, Antonio; Schoser, Benedikt

Multi-center evaluation of the Alinity m HR HPV assay with liquid-based cytology cervical specimens in the United States

美国多中心对Alinity m HR HPV检测方法在液基细胞学宫颈标本中的应用进行评估

Goldstein, D Yitzchak; Yang, Tong; Lucic, Danijela; Zhang, Yan; Cullum, Richard; Kostera, Joshua; Patel, Anami

Muscle Biopsy Findings in Valosin-Containing Protein Multisystem Proteinopathy

含缬氨酸蛋白多系统蛋白病的肌肉活检结果

Schiava, Marianela; Parkhurst, Yolande; Henderson, Matthew; Polvikoski, Tuomo; Valtcheva, Manouela V; Nishino, Ichizo; Inoue, Michio; Nishimori, Yukako; Saito, Yoshihiko; Stojkovic, Tanya; Villar-Quiles, Rocio N; Romero, Norma Beatriz; Evangelista, Teresinha; Malfatti, Edoardo; Souvannanorath, Sarah; Pegoraro, Elena; Riguzzi, Pietro; Monforte, Mauro; Bortolani, Sara; Torchia, Eleonora; Sabatelli, Mario; Tasca, Giorgio; Straub, Volker; Marini-Bettolo, Chiara; Guglieri, Michela; Cetin, Hakan; Gelpi, Ellen; Klotz, Sigrid; De Bleecker, Jan L; Alonso-Jimenez, Alicia; Baets, Jonathan; De Ridder, Willem; De Jonghe, Peter; Claeys, Kristl G; Thal, Dietmar Rudolf; Bevilacqua, Jorge A; Luo, Sushan; Zhu, Wenhua; Lin, Jie; Papadimas, George; Papadopoulos, Constantinos; Zamba-Papanicolaou, Eleni; Xirou, Sophia; Pal, Endre; Rodolico, Carmelo; Kostera-Pruszczyk, Anna; Kierdaszuk, Biruta; Kaminska, Anna; Muelas, Nuria; Vilchez, Juan Jesus; Domínguez-González, Cristina; Hernandez-Lain, Aurelio; Alonso-Perez, Jorge; Nedkova-Hristova, Velina; Aledo, Carlos; Oldfors, Anders; Badrising, Umesh A; Kushlaf, Hani; Lloyd, Thomas E; Ikenaga, Chiseko; Alfano, Lindsay N; Quinn, Colin C; Walk, David; Vorgerd, Matthias; Weihl, Conrad; Olivé, Montse; Diaz-Manera, Jordi

Confirmatory long-term efficacy and safety results of ataluren in patients with nmDMD from Study 041, an international, randomized, double-blind, placebo-controlled, Phase III trial

来自 041 研究的确认性长期疗效和安全性结果,该研究是一项国际性、随机、双盲、安慰剂对照的 III 期试验,旨在评估阿塔卢伦治疗非转移性杜氏肌营养不良症 (nmDMD) 患者的疗效和安全性。

Vlodavets, Dmitry; Wu, Shiwen; Kostera-Pruszczyk, Anna; Chae, Jong-Hee; Gulati, Sheffali; Shin, Jin-Hong; Lorentzos, Michelle; Cairns, Anita; Jong, Yuh-Jyh; Komaki, Hirofumi; Statland, Jeffrey; de Queiroz Campos Araujo, Alexandra Prufer; Gurgel-Giannetti, Juliana; Takeshima, Yasuhiro; Escobar Cedillo, Rosa E; Karachunski, Peter; Haginoya, Kazuhiro; Penematsa, Vinay; Chou, Connie; Williams, Paula; Werner, Christian; McDonald, Craig M

Expanding TBCE-related phenotype-novel variant causing rigid spine, eosinophilia, neutropenia, and nocturnal hypoxemia

TBCE相关表型扩展——一种导致脊柱僵硬、嗜酸性粒细胞增多、中性粒细胞减少和夜间低氧血症的新变异

Badura-Stronka, Magdalena; Hirschfeld, Adam Sebastian; Globa, Evgenia; Winczewska-Wiktor, Anna; Potulska-Chromik, Anna; Kostera-Pruszczyk, Anna; Wicher, Dorota; Krawczyński, Maciej Robert