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

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

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

具有播种能力的 TDP-43 在人类患者和小鼠肌肉中持续存在

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

Biallelic variants in COQ7 cause distal hereditary motor neuropathy with upper motor neuron signs

COQ7 的双等位基因变异导致远端遗传性运动神经病,并伴有上运动神经元体征

Adriana P Rebelo, Pedro J Tomaselli, Jessica Medina, Ying Wang, Maike F Dohrn, Eva Nyvltova, Matt C Danzi, Mark Garrett, Sean E Smith, Alan Pestronk, Chengcheng Li, Ariel Ruiz, Elizabeth Jacobs, Shawna M E Feely, Marcondes C França, Marcus V Gomes, Diogo F Santos, Surinder Kumar, David B Lombard, Ma

Schwann cells and myelin in human peripheral nerve: Major protein components vary with age, axon size and pathology

人类周围神经中的雪旺细胞和髓鞘:主要蛋白质成分随年龄、轴突大小和病理而变化

Alan Pestronk, Robert E Schmidt, Robert Bucelli, Julia Sim

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