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

High-dose nusinersen for spinal muscular atrophy: a phase 3 randomized trial

高剂量诺西那生治疗脊髓性肌萎缩症:一项3期随机试验

Finkel, Richard S; Crawford, Thomas O; Mercuri, Eugenio; Sumner, Charlotte J; Garcia Romero, Maria Del Mar; Day, John W; Montes, Jacqueline; Sun, Peng; Tichler, Ben; Paradis, Angela D; Boesch, Emily; Inra, Jennifer; Littauer, Ross; Sohn, Jihee; Monine, Michael; Gambino, Giulia; Foster, Richard; Farewell, Raechel; Fradette, Stephanie

Cooperative supramolecular integration of QS-21 into polymeric micelles as a tunable nanoadjuvant platform for subunit vaccines

将QS-21协同超分子整合到聚合物胶束中,作为亚单位疫苗的可调控纳米佐剂平台

Ward, Kailee S; Ptak, Christopher P; Pashkova, Natalya; Grider, Tiffany; Peterson, Tabitha A; Pareyson, Davide; Pisciotta, Chiara; Saveri, Paola; Moroni, Isabella; Laura, Matilde; Burns, Joshua; Menezes, Manoj P; Cornett, Kayla; Finkel, Richard; Mukherjee-Clavin, Bipasha; Sumner, Charlotte J; Greene, Maxwell; Abdul Hamid, Omer; Herrmann, David; Sadjadi, Reza; Walk, David; Züchner, Stephan; Reilly, Mary M; Scherer, Steven S; Piper, Robert C; Shy, Michael E; Márquez, Patricio Guillermo; Alonso, Leonardo Gabriel; Marfía, Juan Ignacio; Smith, Ignacio; Mourelle, Ana Carolina; Formica, María Lina; Miranda, María Victoria; Valdez, Silvina Noemí; Wolman, Federico Javier; Glisoni, Romina Julieta

Microvascular pathology in the spinal cord of severe spinal muscular atrophy patients

重度脊髓性肌萎缩症患者脊髓的微血管病变

Allardyce, Hazel; Lanz, Heather; Lawrence, Benjamin D; Crawford, Thomas O; Sumner, Charlotte J; Parson, Simon H

Profiling the TRPV4 ankyrin repeat domain interactome and its disruption by neuromuscular disease-causing mutations

分析TRPV4锚蛋白重复结构域相互作用组及其受神经肌肉疾病致病突变的影响

Loder, Alexis K; Kosmanopoulos, Gage P; Aisenberg, William H; Cox, Eric; Meeker, Alexis R; Blackshaw, Seth; Gaudet, Rachelle; Hellmich, Ute A; McCray, Brett A; Sumner, Charlotte J; Sullivan, Jeremy M

A standardized framework resolves ambiguity in motor neuron loss across neurodegenerative diseases

标准化的框架可以消除神经退行性疾病中运动神经元丢失的模糊性

Sowoidnich, Leonie; Norman, Aaron L; Gerstner, Florian; Siemund, Josiane K; Buettner, Jannik M; Pagiazitis, John G; Dreilich, Vanessa; Pilz, Konstantin; Tian, Dajun; Sumner, Charlotte J; Paradis, Angela; Mentis, George Z; Simon, Christian M

Cerebellar pathology contributes to neurodevelopmental deficits in spinal muscular atrophy

小脑病变是脊髓性肌萎缩症神经发育缺陷的原因之一。

Gerstner, Florian; Wittig, Sandra; Menedo, Christian; Ruwald, Sayan; Carlini, Maria J; Vankova, Adela; Sowoidnich, Leonie; Martín-López, Gerardo; Dreilich, Vanessa; Alonso-Collado, Andrea; Pagiazitis, John G; Aousji, Oumayma; Grzyb, Chloe; Smith, Amy K; Yang, Mu; Roselli, Francesco; Mentis, George Z; Sumner, Charlotte J; Pellizzoni, Livio; Simon, Christian M

Presymptomatic Treatment of a Genetic Disease with a Small-Molecule Drug

利用小分子药物对遗传性疾病进行症状前治疗

Sumner, Charlotte J

Intra-amniotic antisense oligonucleotide treatment improves phenotypes in preclinical models of spinal muscular atrophy

羊膜腔内反义寡核苷酸治疗可改善脊髓性肌萎缩症临床前模型的表型

Borges, Beltran; Brown, Stephen M; Chen, Wan-Jin; Clarke, Maria T; Herzeg, Akos; Park, Jae Hong; Ross, Joshua; Kong, Lingling; Denton, Madeline; Smith, Amy K; Lum, Tony; Zada, Fareha Moulana; Cordero, Marco; Gupta, Nalin; Cook, Sarah E; Murray, Heather; Matson, John; Klein, Stephanie; Bennett, C Frank; Krainer, Adrian R; MacKenzie, Tippi C; Sumner, Charlotte J

In utero genetic therapy: Treatment of early onset neurological disorders before they start

子宫内基因治疗:在神经系统疾病早期发作前进行治疗

Borges, Beltran; Brown, Stephen M; MacKenzie, Tippi C; Sumner, Charlotte J

TRPV4 neuromuscular disease registry highlights bulbar, skeletal and proximal limb manifestations

TRPV4神经肌肉疾病登记研究重点关注延髓、骨骼和近端肢体表现

Kosmanopoulos, Gage P; Donohue, Jack K; Hoke, Maya; Thomas, Simone; Peyton, Margo A; Vo, Linh; Crawford, Thomas O; Sadjadi, Reza; Herrmann, David N; Yum, Sabrina W; Reilly, Mary M; Scherer, Steven S; Finkel, Richard S; Lewis, Richard A; Pareyson, Davide; Pisciotta, Chiara; Walk, David; Shy, Michael E; Sumner, Charlotte J; McCray, Brett A