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

Current clinical applications of AAV-mediated gene therapy

目前AAV介导的基因治疗的临床应用

Byrne, Barry J; Flanigan, Kevin M; Matesanz, Susan E; Finkel, Richard S; Waldrop, Megan A; D'Ambrosio, Eleonora S; Johnson, Nicholas E; Smith, Barbara K; Bönnemann, Carsten; Carrig, Sean; Rossano, Joseph W; Greenberg, Barry; Lalaguna, Laura; Lara-Pezzi, Enrique; Subramony, Sub; Corti, Manuela; Mercado-Rodriguez, Claudia; Leon-Astudillo, Carmen; Ahrens-Nicklas, Rebecca; Bharucha-Goebel, Diana; Gao, Guangping; Gessler, Dominic J; Hwu, Wuh-Liang; Chien, Yin-Hsiu; Lee, Ni-Chung; Boye, Sanford L; Boye, Shannon E; George, Lindsey A

Identification of disease-specific extracellular vesicle-associated plasma protein biomarkers for Duchenne Muscular Dystrophy and Facioscapulohumeral Muscular Dystrophy

鉴定杜氏肌营养不良症和面肩肱型肌营养不良症的疾病特异性细胞外囊泡相关血浆蛋白生物标志物

Bayazit, Mustafa Bilal; Henderson, Don; Nguyen, Kim Truc; Reátegui, Eduardo; Tawil, Rabi; Flanigan, Kevin M; Harper, Scott Q; Saad, Nizar Y

A genome-wide association analysis of loss of ambulation in dystrophinopathy patients suggests multiple candidate modifiers of disease severity

一项针对肌营养不良症患者行走能力丧失的全基因组关联分析表明,存在多个可能影响疾病严重程度的候选修饰因子。

Flanigan, Kevin M; Waldrop, Megan A; Martin, Paul T; Alles, Roxane; Dunn, Diane M; Alfano, Lindsay N; Simmons, Tabatha R; Moore-Clingenpeel, Melissa; Burian, John; Seok, Sang-Cheol; Weiss, Robert B; Vieland, Veronica J

Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial

不同皮质类固醇剂量方案对杜氏肌营养不良症男孩临床疗效的影响:一项随机临床试验

Guglieri, Michela; Bushby, Kate; McDermott, Michael P; Hart, Kimberly A; Tawil, Rabi; Martens, William B; Herr, Barbara E; McColl, Elaine; Speed, Chris; Wilkinson, Jennifer; Kirschner, Janbernd; King, Wendy M; Eagle, Michelle; Brown, Mary W; Willis, Tracey; Griggs, Robert C; Straub, Volker; van Ruiten, Henriette; Childs, Anne-Marie; Ciafaloni, Emma; Shieh, Perry B; Spinty, Stefan; Maggi, Lorenzo; Baranello, Giovanni; Butterfield, Russell J; Horrocks, I A; Roper, Helen; Alhaswani, Zoya; Flanigan, Kevin M; Kuntz, Nancy L; Manzur, Adnan; Darras, Basil T; Kang, Peter B; Morrison, Leslie; Krzesniak-Swinarska, Monika; Mah, Jean K; Mongini, Tiziana E; Ricci, Federica; von der Hagen, Maja; Finkel, Richard S; O'Reardon, Kathleen; Wicklund, Matthew; Kumar, Ashutosh; McDonald, Craig M; Han, Jay J; Joyce, Nanette; Henricson, Erik K; Schara-Schmidt, Ulrike; Gangfuss, Andrea; Wilichowski, Ekkehard; Barohn, Richard J; Statland, Jeffrey M; Campbell, Craig; Vita, Giuseppe; Vita, Gian Luca; Howard, James F Jr; Hughes, Imelda; McMillan, Hugh J; Pegoraro, Elena; Bello, Luca; Burnette, W Bryan; Thangarajh, Mathula; Chang, Taeun

Phenotypic Spectrum of Dystrophinopathy Due to Duchenne Muscular Dystrophy Exon 2 Duplications

杜氏肌营养不良症外显子2重复引起的肌营养不良症表型谱

Zambon, Alberto A; Waldrop, Megan A; Alles, Roxane; Weiss, Robert B; Conroy, Sara; Moore-Clingenpeel, Melissa; Previtali, Stefano; Flanigan, Kevin M

Intron mutations and early transcription termination in Duchenne and Becker muscular dystrophy

杜氏肌营养不良症和贝克尔肌营养不良症中的内含子突变和早期转录终止

Waldrop, Megan A; Moore, Steven A; Mathews, Katherine D; Darbro, Benjamin W; Medne, Livja; Finkel, Richard; Connolly, Anne M; Crawford, Thomas O; Drachman, Daniel; Wein, Nicolas; Habib, Ali A; Krzesniak-Swinarska, Monika A; Zaidman, Craig M; Collins, James J; Jokela, Manu; Udd, Bjarne; Day, John W; Ortiz-Guerrero, Gloria; Statland, Jeff; Butterfield, Russell J; Dunn, Diane M; Weiss, Robert B; Flanigan, Kevin M

Evaluating longitudinal therapy effects via the North Star Ambulatory Assessment

通过北极星门诊评估法评估纵向治疗效果

McDonald, Craig M; Wei, Lee-Jen; Flanigan, Kevin M; Elfring, Gary; Trifillis, Panayiota; Muntoni, Francesco

X-linked muscular dystrophy in a Labrador Retriever strain: phenotypic and molecular characterisation

拉布拉多犬品系中的X连锁肌营养不良症:表型和分子特征

Barthélémy, Inès; Calmels, Nadège; Weiss, Robert B; Tiret, Laurent; Vulin, Adeline; Wein, Nicolas; Peccate, Cécile; Drougard, Carole; Beroud, Christophe; Deburgrave, Nathalie; Thibaud, Jean-Laurent; Escriou, Catherine; Punzón, Isabel; Garcia, Luis; Kaplan, Jean-Claude; Flanigan, Kevin M; Leturcq, France; Blot, Stéphane

Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect

编码介导激酶模块亚基的MED12L基因变异会导致与转录缺陷相关的智力障碍。

Nizon, Mathilde; Laugel, Vincent; Flanigan, Kevin M; Pastore, Matthew; Waldrop, Megan A; Rosenfeld, Jill A; Marom, Ronit; Xiao, Rui; Gerard, Amanda; Pichon, Olivier; Le Caignec, Cédric; Gérard, Marion; Dieterich, Klaus; Truitt Cho, Megan; McWalter, Kirsty; Hiatt, Susan; Thompson, Michelle L; Bézieau, Stéphane; Wadley, Alexandrea; Wierenga, Klaas J; Egly, Jean-Marc; Isidor, Bertrand

Long-range genomic regulators of THBS1 and LTBP4 modify disease severity in duchenne muscular dystrophy

THBS1和LTBP4的长程基因组调控因子会影响杜氏肌营养不良症的疾病严重程度

Weiss, Robert B; Vieland, Veronica J; Dunn, Diane M; Kaminoh, Yuuki; Flanigan, Kevin M