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C

Charlotte J. Sumner

Stanford University
H指数:40
被引数:6,660

个人简介

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教育背景

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工作经历

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荣誉奖项

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

作者更正: 高剂量nusinersen治疗脊髓性肌萎缩症: 一项3期随机试验

Nature Medicine
IF50
2026-04-230
OAAI
Richard S. Finkel; Thomas O. Crawford; Eugenio Mercuri; Charlotte J. Sumner; Maria del Mar Garcia Romero; John W. Day; Jacqueline Montes; Peng Sun; Ben Tichler; Angela D. Paradis; Emily Boesch; Jennifer Inra; Ross Littauer; Jihee Sohn; Michael Monine; Giulia Gambino; Richard Foster; Raechel Farewell; Stephanie Fradette
High-dose nusinersen for spinal muscular atrophy: a phase 3 randomized trial

大剂量nusinersen治疗脊髓性肌萎缩症: 一项3期随机试验

Nature Medicine
IF50
2026-02-030
OAAI
Richard S. Finkel; Thomas O. Crawford; Eugenio Mercuri; Charlotte J. Sumner; Maria del Mar Garcia Romero; John W. Day; Jacqueline Montes; Peng Sun; Ben Tichler; Angela D. Paradis; Emily Boesch; Jennifer Inra; Ross Littauer; Jihee Sohn; Michael Monine; Giulia Gambino; Richard Foster; Raechel Farewell; Stephanie Fradette
Charcot-Marie-Tooth disease type 1E: clinical natural history and molecular impact of PMP22 variants
Brain
IF11.7
2025-06-090
PRE
Kailee S Ward; Christopher P Ptak; Natalya Pashkova; Tiffany Grider; Tabitha A Peterson; Davide Pareyson; Chiara Pisciotta; Paola Saveri; Isabella Moroni; Matilde Laura; Joshua Burns; Manoj P Menezes; Kayla Cornett; Richard Finkel; Bipasha Mukherjee-Clavin; Charlotte J Sumner; Maxwell Greene; Omer Abdul Hamid; David Herrmann; Reza Sadjadi; David Walk; Stephan Züchner; Mary M Reilly; Steven S Scherer; Inherited Neuropathy Consortium; Robert C Piper; Michael E Shy
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改善了脊髓性肌萎缩症预临床模型的表现型

SCIENCE TRANSLATIONAL MEDICINE
IF14.6
2025-05-140
PRE
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.
Combined clinical, structural and cellular studies discriminate pathogenic and benign TRPV4 variants
BRAIN
IF11.7
2024-07-181
PRE
Berth, Sarah H.; Vo, Linh; Kwon, Do Hoon; Grider, Tiffany; Damayanti, Yasmine S.; Kosmanopoulos, Gage; Fox, Andrew; Lau, Alexander R.; Carr, Patrice; Donohue, Jack K.; Hoke, Maya; Thomas, Simone; Karam, Chafic; Fay, Alex J.; Meltzer, Ethan; Crawford, Thomas O.; Gaudet, Rachelle; Shy, Michael E.; Hellmich, Ute A.; Lee, Seok-Yong; Sumner, Charlotte J.; Mccray, Brett A.
TRPV4 neuromuscular disease registry highlights bulbar, skeletal and proximal limb manifestations

TRPV4神经肌肉疾病注册表突出了球部，骨骼和近端肢体表现

BRAIN
IF11.7
2024-06-251
PRE
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.
Gain-of-function mutations of TRPV4 acting in endothelial cells drive blood-CNS barrier breakdown and motor neuron degeneration in mice

TRPV4作用于内皮细胞的功能获得性突变导致小鼠血-CNS屏障破坏和运动神经元变性

SCIENCE TRANSLATIONAL MEDICINE
IF14.6
2024-05-227
OA
Sullivan, Jeremy M.; Bagnell, Anna M.; Alevy, Jonathan; Avila, Elvia Mena; Mihaljevic, Ljubica; Saavedra-Rivera, Pamela C.; Kong, Lingling; Huh, Jennifer S.; McCray, Brett A.; Aisenberg, William H.; Zuberi, Aamir R.; Bogdanik, Laurent; Lutz, Cathleen M.; Qiu, Zhaozhu; Quinlan, Katharina A.; Searson, Peter C.; Sumner, Charlotte J.
Crosstalk between regulatory elements in disordered TRPV4 N-terminus modulates lipid-dependent channel activity

失调的TRPV4 N末端调节元件之间的串扰调节脂质依赖性通道活性

NATURE COMMUNICATIONS
IF15.7
2023-07-1315
OAAI
Goretzki, Benedikt; Wiedemann, Christoph; McCray, Brett A.; Schaefer, Stefan L.; Jansen, Jasmin; Tebbe, Frederike; Mitrovic, Sarah-Ana; Noeth, Julia; Cabezudo, Ainara Claveras; Donohue, Jack K.; Jeffries, Cy M.; Steinchen, Wieland; Stengel, Florian; Sumner, Charlotte J.; Hummer, Gerhard; Hellmich, Ute A.

研究方向

暂未获取到该数据
T
Thomas O. Crawford
H 指数:78论文数:278被引数:2.1万
L
Lingling Kong
H 指数:22论文数:108被引数:3,174
B
Brett A. McCray
H 指数:19论文数:48被引数:2,371
R
Richard S. Finkel
H 指数:83论文数:471被引数:3.1万
K
Kenneth H. Fischbeck
H 指数:77论文数:312被引数:2.5万
B
Barrington G. Burnett
H 指数:26论文数:66被引数:3,688
J
Jeremy M. Sullivan
H 指数:22论文数:40被引数:1,318
T
Thomas E. Lloyd
H 指数:52论文数:180被引数:1.0万
U
Ute A. Hellmich
H 指数:27论文数:124被引数:2,268
J
Jack K. Donohue
H 指数:7论文数:31被引数:173