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

Insights into immunogenicity and therapeutic strategies to mitigate the immune response in infantile-onset Pompe disease: a comprehensive systematic literature review

对婴儿型庞贝病免疫原性和减轻免疫反应的治疗策略的深入研究:一项全面的系统性文献综述

Kishnani, Priya S; Van Den Hout, Johanna M P; Hahn, Andreas; Kronn, David; Chien, Yin-Hsiu; Han, Mei; Heuterman, Jennifer; Sparks, Susan; Glen, Colin; Daba, Nadia

Clinical modeling of motor function to predict treatment efficacy and enable in silico treatment comparisons in infantile-onset Pompe disease

利用运动功能临床模型预测治疗效果,并实现婴儿型庞贝病治疗方案的计算机模拟比较

Rachedi, Fatiha; Jreich, Rana; Sparks, Susan; Zaher, Atef; An Haack, Kristina; Granados, Alicia; Meng, Zhaoling

The value of knowing: preferences for genetic testing to diagnose rare muscle diseases

了解的价值:对基因检测在诊断罕见肌肉疾病方面的偏好

Mansfield, Carol; Boeri, Marco; Coulter, Josh; Baranowski, Eileen; Sparks, Susan; An Haack, Kristina; Hamed, Alaa

Measurement Properties of 2 Novel PROs, the Pompe Disease Symptom Scale and Pompe Disease Impact Scale, in the COMET Study

COMET 研究中两种新型患者报告结局指标(庞贝病症状量表和庞贝病影响量表)的测量特性

Dimachkie, Mazen M; Kishnani, Priya S; Ivanescu, Cristina; Flore, Giulio; Gwaltney, Chad; van der Beek, Nadine A M E; Hamed, Alaa; An Haack, Kristina; Pollissard, Laurence; Baranowski, Eileen; Sparks, Susan E; DasMahapatra, Pronabesh

Qualitative interviews to improve patient-reported outcome measures in late-onset Pompe disease: the patient perspective

定性访谈在改善晚发型庞贝病患者报告结局指标方面的应用:患者视角

Hamed, Alaa; An Haack, Kristina; Gwaltney, Chad; Baranowski, Eileen; Stewart, Andrew; Krupnick, Robert; Tyler, Margaret; Sparks, Susan; Paty, Jean

The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle muscular weakness and Pompe disease

拉丁美洲利用下一代测序基因检测技术检测隐性肢带型肌无力症和庞贝氏症的经验

Bevilacqua, Jorge A; Guecaimburu Ehuletche, Maria Del Rosario; Perna, Abayuba; Dubrovsky, Alberto; Franca, Marcondes C Jr; Vargas, Steven; Hegde, Madhuri; Claeys, Kristl G; Straub, Volker; Daba, Nadia; Faria, Roberta; Periquet, Magali; Sparks, Susan; Thibault, Nathan; Araujo, Roberto

Assessment of disease progression in dysferlinopathy: A 1-year cohort study

肌营养不良症疾病进展评估:一项为期1年的队列研究

Moore, Ursula; Jacobs, Marni; James, Meredith K; Mayhew, Anna G; Fernandez-Torron, Roberto; Feng, Jia; Cnaan, Avital; Eagle, Michelle; Bettinson, Karen; Rufibach, Laura E; Lofra, Robert Muni; Blamire, Andrew M; Carlier, Pierre G; Mittal, Plavi; Lowes, Linda Pax; Alfano, Lindsay; Rose, Kristy; Duong, Tina; Berry, Katherine M; Montiel-Morillo, Elena; Pedrosa-Hernández, Irene; Holsten, Scott; Sanjak, Mohammed; Ashida, Ai; Sakamoto, Chikako; Tateishi, Takayuki; Yajima, Hiroyuki; Canal, Aurélie; Ollivier, Gwenn; Decostre, Valerie; Mendez, Juan Bosco; Sánchez-Aguilera Praxedes, Nieves; Thiele, Simone; Siener, Catherine; Shierbecker, Jeanine; Florence, Julaine M; Vandevelde, Bruno; DeWolf, Brittney; Hutchence, Meghan; Gee, Richard; Prügel, Juliana; Maron, Elke; Hilsden, Heather; Lochmüller, Hanns; Grieben, Ulrike; Spuler, Simone; Tesi Rocha, Carolina; Day, John W; Jones, Kristi J; Bharucha-Goebel, Diana X; Salort-Campana, Emmanuelle; Harms, Matthew; Pestronk, Alan; Krause, Sabine; Schreiber-Katz, Olivia; Walter, Maggie C; Paradas, Carmen; Hogrel, Jean-Yves; Stojkovic, Tanya; Takeda, Shin'ichi; Mori-Yoshimura, Madoka; Bravver, Elena; Sparks, Susan; Díaz-Manera, Jordi; Bello, Luca; Semplicini, Claudio; Pegoraro, Elena; Mendell, Jerry R; Bushby, Kate; Straub, Volker

Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease

ADVANCE基线数据集(一项针对美国庞贝病患儿和青少年的综合队列研究)中的临床特征和基因型

Kishnani, Priya S; Gibson, James B; Gambello, Michael J; Hillman, Richard; Stockton, David W; Kronn, David; Leslie, Nancy D; Pena, Loren D M; Tanpaiboon, Pranoot; Day, John W; Wang, Raymond Y; Goldstein, Jennifer L; An Haack, Kristina; Sparks, Susan E; Zhao, Yang; Hahn, Si Houn

Muscle MRI in patients with dysferlinopathy: pattern recognition and implications for clinical trials

肌纤维蛋白病患者的肌肉磁共振成像:模式识别及其对临床试验的意义

Diaz-Manera, Jordi; Fernandez-Torron, Roberto; LLauger, Jaume; James, Meredith K; Mayhew, Anna; Smith, Fiona E; Moore, Ursula R; Blamire, Andrew M; Carlier, Pierre G; Rufibach, Laura; Mittal, Plavi; Eagle, Michelle; Jacobs, Marni; Hodgson, Tim; Wallace, Dorothy; Ward, Louise; Smith, Mark; Stramare, Roberto; Rampado, Alessandro; Sato, Noriko; Tamaru, Takeshi; Harwick, Bruce; Rico Gala, Susana; Turk, Suna; Coppenrath, Eva M; Foster, Glenn; Bendahan, David; Le Fur, Yann; Fricke, Stanley T; Otero, Hansel; Foster, Sheryl L; Peduto, Anthony; Sawyer, Anne Marie; Hilsden, Heather; Lochmuller, Hanns; Grieben, Ulrike; Spuler, Simone; Tesi Rocha, Carolina; Day, John W; Jones, Kristi J; Bharucha-Goebel, Diana X; Salort-Campana, Emmanuelle; Harms, Matthew; Pestronk, Alan; Krause, Sabine; Schreiber-Katz, Olivia; Walter, Maggie C; Paradas, Carmen; Hogrel, Jean-Yves; Stojkovic, Tanya; Takeda, Shin'ichi; Mori-Yoshimura, Madoka; Bravver, Elena; Sparks, Susan; Bello, Luca; Semplicini, Claudio; Pegoraro, Elena; Mendell, Jerry R; Bushby, Kate; Straub, Volker

Teenage exercise is associated with earlier symptom onset in dysferlinopathy: a retrospective cohort study

青少年时期运动与肌营养不良症症状提前出现相关:一项回顾性队列研究

Moore, Ursula R; Jacobs, Marni; Fernandez-Torron, Roberto; Jang, Jiji; James, Meredith K; Mayhew, Anna; Rufibach, Laura; Mittal, Plavi; Eagle, Michelle; Cnaan, Avital; Carlier, Pierre G; Blamire, Andrew; Hilsden, Heather; Lochmüller, Hanns; Grieben, Ulrike; Spuler, Simone; Tesi Rocha, Carolina; Day, John W; Jones, Kristi J; Bharucha-Goebel, Diana X; Salort-Campana, Emmanuelle; Harms, Matthew; Pestronk, Alan; Krause, Sabine; Schreiber-Katz, Olivia; Walter, Maggie C; Paradas, Carmen; Hogrel, Jean-Yves; Stojkovic, Tanya; Takeda, Shin'ichi; Mori-Yoshimura, Madoka; Bravver, Elena; Sparks, Susan; Diaz-Manera, Jordi; Bello, Luca; Semplicini, Claudio; Pegoraro, Elena; Mendell, Jerry R; Bushby, Kate; Straub, Volker