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

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

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

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

Global variations in diagnostic methods and epidemiological estimates in Pompe disease: findings from a scoping review

庞贝病诊断方法和流行病学估计的全球差异:一项范围界定综述的研究结果

Giugliani, Roberto; Solomon, Faryn; Kushlaf, Hani; Wright, Erica; Haselkorn, Tmirah; Zanoteli, Edmar; Schoser, Benedikt

Minimal clinically important differences in six-minute walking distance in late-onset Pompe disease

晚发型庞贝病患者六分钟步行距离的临床重要差异极小

Claeys, Kristl G; Kushlaf, Hani; Raza, Syed; Hummel, Noemi; Shohet, Simon; Keyzor, Ian; Kopiec, Agnieszka; Graham, Ryan; Fox, Brian; Schoser, Benedikt

Switching treatment to cipaglucosidase alfa plus miglustat positively affects patient-reported outcome measures in patients with late-onset Pompe disease

对于晚发型庞贝病患者,改用西帕葡萄糖苷酶α联合米格鲁司他治疗可改善患者报告的结局指标。

Kishnani, Priya S; Byrne, Barry J; Claeys, Kristl G; Díaz-Manera, Jordi; Dimachkie, Mazen M; Kushlaf, Hani; Mozaffar, Tahseen; Roberts, Mark; Schoser, Benedikt; Hummel, Noemi; Kopiec, Agnieszka; Holdbrook, Fred; Shohet, Simon; Toscano, Antonio

Efficacy and Safety of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease After 97 Weeks: A Phase 3 Randomized Clinical Trial

阿伐葡萄糖苷酶α治疗晚发型庞贝病患者97周后的疗效和安全性:一项3期随机临床试验

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

Provisional practice recommendation for the management of myopathy in VCP-associated multisystem proteinopathy

VCP相关多系统蛋白病肌病管理的临时实践建议

Roy, Bhaskar; Peck, Allison; Evangelista, Teresinha; Pfeffer, Gerald; Wang, Leo; Diaz-Manera, Jordi; Korb, Manisha; Wicklund, Matthew P; Milone, Margherita; Freimer, Miriam; Kushlaf, Hani; Villar-Quiles, Rocio-Nur; Stojkovic, Tanya; Needham, Merrilee; Palmio, Johanna; Lloyd, Thomas E; Keung, Benison; Mozaffar, Tahseen; Weihl, Conrad Chris; Kimonis, Virginia

Patient preference for virtual versus in-person visits in neuromuscular clinical practice

神经肌肉临床实践中患者更倾向于虚拟就诊而非面对面就诊

Hafeez, Komal; Kushlaf, Hani; Al-Sultani, Husam; Joseph, Anny-Claude; Zaeem, Zoya; Siddiqi, Zaeem; Laboy, Shannon; Pulley, Michael; Habib, Ali A; Robbins, Nathaniel M; Zadeh, Sean; Hafeez, Muhammad Ubaid; Hussain, Yessar; Melendez-Zaidi, Alexandria; Kassardjian, Charles; Johnson, Kristin; Leonhard, Holly; Biliciler, Suur; Patino Murillas, Jorge E; Shaibani, Aziz I

Patient Assisted Intervention for Neuropathy: Comparison of Treatment in Real Life Situations (PAIN-CONTRoLS): Bayesian Adaptive Comparative Effectiveness Randomized Trial

患者辅助干预治疗神经病变:真实情境下治疗的比较(疼痛控制):贝叶斯自适应比较效果随机试验

Barohn, Richard J; Gajewski, Byron; Pasnoor, Mamatha; Brown, Alexandra; Herbelin, Laura L; Kimminau, Kim S; Mudaranthakam, Dinesh Pal; Jawdat, Omar; Dimachkie, Mazen M; Iyadurai, Stanley; Stino, Amro; Kissel, John; Pascuzzi, Robert; Brannagan, Thomas; Wicklund, Matthew; Ahmed, Aiesha; Walk, David; Smith, Gordon; Quan, Dianna; Heitzman, Darryl; Tobon, Alejandro; Ladha, Shafeeq; Wolfe, Gil; Pulley, Michael; Hayat, Ghazala; Li, Yuebing; Thaisetthawatkul, Pariwat; Lewis, Richard; Biliciler, Suur; Sharma, Khema; Salajegheh, Kian; Trivedi, Jaya; Mallonee, William; Burns, Ted; Jacoby, Mark; Bril, Vera; Vu, Tuan; Ramchandren, Sindhu; Bazant, Mark; Austin, Sara; Karam, Chafic; Hussain, Yessar; Kutz, Christen; Twydell, Paul; Scelsa, Stephen; Kushlaf, Hani; Wymer, James; Hehir, Michael; Kolb, Noah; Ralph, Jeffrey; Barboi, Alexandru; Verma, Navin; Ahmed, Moiz; Memon, Anza; Saperstein, David; Lou, Jau-Shin; Swenson, Andrea; Cash, Tiyonnoh