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

High-Density Lipoprotein-Associated Cholesterol Abnormalities in a Clinical Outcomes Study of Dysferlin-Deficient Limb-Girdle Muscular Dystrophy Type R2

肌营养不良蛋白缺乏型肢带型肌营养不良症R2型临床结局研究中高密度脂蛋白相关胆固醇异常

White, Zoe; Rufibach, Laura; Dressman, Heather Gordish; Hilsden, Heather; Cox, Dan; Spuler, Simone; Day, John W; Jones, Kristi J; Bharucha-Goebel, Diana X; Salort-Campana, Emmanuelle; Pestronk, Alan; Walter, Maggie C; Paradas, Carmen; Stojkovic, Tanya; Mori-Yoshimura, Madoka; Bravver, Elena; Diaz-Manera, Jordi; Pegoraro, Elena; Mendell, Jerry R; Straub, Volker; Bernatchez, Pascal

Gene therapy ameliorates neuromuscular pathology in CLN3 disease

基因疗法可改善CLN3疾病的神经肌肉病理。

Ziółkowska, Ewa A; Jablonka-Shariff, Albina; Williams, Letitia L; Jansen, Matthew J; Wang, Sophie H; Eultgen, Elizabeth M; Wood, Matthew D; Hunter, Daniel A; Sharma, Jaiprakash; Sardiello, Marco; Reese, Robyn; Pestronk, Alan; Sands, Mark S; Snyder-Warwick, Alison K; Cooper, Jonathan D

Dysferlinopathy as cause of long-term hyperCKemia with preserved strength

肌营养不良蛋白病是长期高肌酸激酶血症伴肌力维持正常的原因。

Cheema, Ikreet; Goodwin, Jacob; Liewluck, Teerin; Bucelli, Robert Charles; Pestronk, Alan; Milone, Margherita

Effects of in vivo Lewy body pathology on neuropsychiatric symptoms across the Alzheimer's disease continuum

体内路易体病理对阿尔茨海默病全程神经精神症状的影响

Zaidman, Craig M; Connolly, Anne M; Malkus, Elizabeth C; Florence, Julaine M; Pestronk, Alan; Leffa, Douglas Teixeira; Povala, Guilherme; Ferreira, Pamela CL; Ferrari‐Souza, João Pedro; Bauer‐Negrini, Guilherme; Rodrigues, Matheus Scarpatto; Amaral, Livia; Lussier, Firoza Z; Medeiros, Marina Scop; Soares, Carolina; Macedo, Arthur C; Therriault, Joseph; Rosa‐Neto, Pedro; Tudorascu, Dana L; Zimmer, Eduardo R; Bellaver, Bruna; Pascoal, Tharick A

Expression of Fibroblast Growth Factor Receptor 3 (FGFR3) in the Human Peripheral Nervous System: Implications for the Putative Pathogenic Role of FGFR3 Autoantibodies in Neuropathy

人类周围神经系统中成纤维细胞生长因子受体3 (FGFR3) 的表达:FGFR3自身抗体在神经病变中潜在致病作用的启示

Chamessian, Alexander; Tavares-Ferriera, Diana; Payne, Maria; Govindarajan, Raghav; Pestronk, Alan; Bertels, Zach; Widman, Allie J; Slivicki, Richard A; Del Rosario, John S; Yi, Jiwon; Copits, Bryan; Ornitz, David M; Price, Theodore J; Gereau, Robert W 4th

ACOX1 gain-of-function post-mortem neuropathology is distinct from ACOX1 loss-of-function: case report and literature review

ACOX1功能获得性突变引起的死后神经病理学改变与ACOX1功能丧失性突变截然不同:病例报告及文献综述

Hubler, Zita; Roberts, Kaleigh Filisa; Sharifai, Nima; Sim, Julia; Hung, Sophia A; Robvais, Grace E; Pestronk, Alan; Schmidt, Robert E; Dahiya, Sonika; Bucelli, Robert C

Seeding-competent TDP-43 persists in human patient and mouse muscle.

具有播种能力的TDP-43存在于人类患者和小鼠肌肉中

Lynch Eileen M, Pittman Sara, Daw Jil, Ikenaga Chiseko, Chen Sheng, Dhavale Dhruva D, Jackrel Meredith E, Ayala Yuna M, Kotzbauer Paul, Ly Cindy V, Pestronk Alan, Lloyd Thomas E, Weihl Conrad C

Water T2 could predict functional decline in patients with dysferlinopathy

水 T2 值可能预测 dysferlinopathy 患者的功能衰退。

Moore, Ursula; Caldas de Almeida Araújo, Ericky; Reyngoudt, Harmen; Gordish-Dressman, Heather; Smith, Fiona E; Wilson, Ian; James, Meredith; Mayhew, Anna; Rufibach, Laura; Day, John W; Jones, Kristi J; Bharucha-Goebel, Diana X; Salort-Campana, Emmanuelle; Pestronk, Alan; Walter, Maggie C; Paradas, Carmen; Stojkovic, Tanya; Mori-Yoshimura, Madoka; Bravver, Elena; Pegoraro, Elena; Mendell, Jerry R; Bushby, Kate; Blamire, Andrew M; Straub, Volker; Carlier, Pierre G; Diaz-Manera, Jordi

Cardiac and pulmonary findings in dysferlinopathy: A 3-year, longitudinal study

肌营养不良蛋白病患者的心脏和肺部表现:一项为期3年的纵向研究

Moore, Ursula; Fernandez-Torron, Roberto; Jacobs, Marni; Gordish-Dressman, Heather; Diaz-Manera, Jordi; James, Meredith K; Mayhew, Anna G; Harris, Elizabeth; Guglieri, Michela; Rufibach, Laura E; Feng, Jia; Blamire, Andrew M; Carlier, Pierre G; Spuler, Simone; Day, John W; Jones, Kristi J; Bharucha-Goebel, Diana X; Salort-Campana, Emmanuelle; Pestronk, Alan; Walter, Maggie C; Paradas, Carmen; Stojkovic, Tanya; Mori-Yoshimura, Madoka; Bravver, Elena; Pegoraro, Elena; Lowes, Linda Pax; Mendell, Jerry R; Bushby, Kate; Bourke, John; Straub, Volker

Randomized phase 2 study of ACE-083, a muscle-promoting agent, in facioscapulohumeral muscular dystrophy

ACE-083(一种肌肉促进剂)治疗面肩肱型肌营养不良症的随机二期研究

Statland, Jeffrey M; Campbell, Craig; Desai, Urvi; Karam, Chafic; Díaz-Manera, Jordi; Guptill, Jeffrey T; Korngut, Lawrence; Genge, Angela; Tawil, Rabi N; Elman, Lauren; Joyce, Nanette C; Wagner, Kathryn R; Manousakis, Georgios; Amato, Anthony A; Butterfield, Russell J; Shieh, Perry B; Wicklund, Matthew; Gamez, Josep; Bodkin, Cynthia; Pestronk, Alan; Weihl, Conrad C; Vilchez-Padilla, Juan J; Johnson, Nicholas E; Mathews, Katherine D; Miller, Barry; Leneus, Ashley; Fowler, Marcie; van de Rijn, Marc; Attie, Kenneth M