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

Author Correction: AAV-based delivery of RNAi targeting ataxin-2 improves survival and pathology in TDP-43 mice

作者更正:基于腺相关病毒(AAV)的RNAi靶向ataxin-2可改善TDP-43小鼠的存活率和病理状况。

Amado, Defne A; Robbins, Ashley B; Whiteman, Katherine R; Smith, Alicia R; Chillon, Guillem; Chen, Yonghong; Fuller, Joshua A; Patty, Nicholas A; Izda, Aleksandar; Cheng, Congsheng; Nelson, Shareen; Dichter, Abigail I; Mazzoni, Esteban O; Monteys, Alex Mas; Davidson, Beverly L

AAV-based delivery of RNAi targeting ataxin-2 improves survival and pathology in TDP-43 mice.

基于 AAV 的 RNAi 递送靶向 ataxin-2 可改善 TDP-43 小鼠的生存率和病理状况

Amado Defne A, Robbins Ashley B, Whiteman Katherine R, Smith Alicia R, Chillon Guillem, Chen Yonghong, Fuller Joshua A, Patty Nicholas A, Izda Aleksandar, Cheng Congsheng, Nelson Shareen, Dichter Abigail I, Mazzoni Esteban O, Monteys Alex Mas, Davidson Beverly L

Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD

由SORD基因突变引起的夏科-马里-图斯病的基因型和表型谱

Cortese, Andrea; Dohrn, Maike F; Curro, Riccardo; Negri, Sara; Lassuthova, Petra; Pisciotta, Chiara; Tozza, Stefano; Al-Ajmi, Abdullah; Feng, Changyong; Tomaselli, Pedro J; Fernandez-Eulate, Gorka; Haddad, Saif; Laurà, Matilde; Rossor, Alexander M; Vegezzi, Elisa; Facchini, Stefano; Sleigh, James N; Rebelo, Adriana; Beijer, Danique; Raposo, Jacquelyn; Saporta, Mario; Lauerova, Barbora; Pernice, Helena F; Achenbach, Pascal; Schöne, Ulrike; Alon, Tayir; Deschauer, Marcus; Cordts, Isabell; Obermaier, Carolin D; Winter, Natalie; Creigh, Peter D; Sowden, Janet E; Rehbein, Tyler; Magri, Stefania; Bertini, Alessandro; Saveri, Paola; Ripellino, Paolo; Huang, Jingyu; Nadaj-Pakleza, Aleksandra; Ross, Alison; Holt, James K L; Brennan, Kathryn M; Sukenik-Halevy, Rivka; Bizaoui, Varoona; Parman, Yesim; Battaloglu, Esra; Cakar, Arman; Alrohaif, Hadil; Hammans, Simon; Kumar, Kishore R; Kennerson, Marina L; Kayserili, Hülya; Amado, Defne A; Hahn, Katrin; Valentino, Paola; Cavalcanti, Francesca; Gaetano, Carlo; Taroni, Franco; Braathen, Geir J; Houlden, Henry; Stojkovic, Tanya; Peric, Stojan; Bolino, Alessandra; Previtali, Stefano C; Yi-Chung, Lee; Başak, Ayşe N; Hamed, Sherifa A; Rojas-Garcia, Ricardo; Claeys, Kristl G; Marques, Wilson; Sevilla, Teresa; Schlotter-Weigel, Beate; Manganelli, Fiore; Zhang, Ruxu; Herrmann, David N; Scherer, Steven S; Seeman, Pavel; Pareyson, Davide; Reilly, Mary M; Shy, Michael E; Züchner, Stephan

Cumulative incidence of motor and cognitive features in the amyotrophic lateral sclerosis-frontotemporal degeneration spectrum

肌萎缩侧索硬化症-额颞叶变性谱系中运动和认知特征的累积发生率

Spencer, Barbara E; Xie, Sharon X; Ohm, Daniel T; Elman, Lauren; Quinn, Colin C; Amado, Defne A; Baer, Michael; Lee, Edward B; Van Deerlin, Vivianna M; Dratch, Laynie; Massimo, Lauren; Irwin, David J; McMillan, Corey T

Scouring the human Hsp70 network uncovers diverse chaperone safeguards buffering TDP-43 toxicity.

对人类 Hsp70 网络的深入研究揭示了多种分子伴侣保护机制,可以缓冲 TDP-43 的毒性

Barbieri Edward M, Linsenmeier Miriam, Whiteman Katherine R, Cheng Yan, Braganza Sylvanne, Copley Katie E, Miranda-Castrodad Paola, Lewis Brennen, Villafañe Kevin, Amado Defne A, Davidson Beverly L, Shorter James

Genetic testing in adults with neurologic disorders: indications, approach, and clinical impacts

成人神经系统疾病的基因检测:适应症、方法和临床影响

Dratch, Laynie; Azage, Meron; Baldwin, Aaron; Johnson, Kelsey; Paul, Rachel A; Bardakjian, Tanya M; Michon, Sara-Claude; Amado, Defne A; Baer, Michael; Deik, Andres F; Elman, Lauren B; Gonzalez-Alegre, Pedro; Guo, Michael H; Hamedani, Ali G; Irwin, David J; Lasker, Aaron; Orthmann-Murphy, Jennifer; Quinn, Colin; Tropea, Thomas F; Scherer, Steven S; Ellis, Colin A

The Importance of Offering Exome or Genome Sequencing in Adult Neuromuscular Clinics

在成人神经肌肉疾病诊所提供外显子组或基因组测序的重要性

Dratch, Laynie; Bardakjian, Tanya M; Johnson, Kelsey; Babaian, Nareen; Gonzalez-Alegre, Pedro; Elman, Lauren; Quinn, Colin; Guo, Michael H; Scherer, Steven S; Amado, Defne A

Digital markers of motor speech impairments in spontaneous speech of patients with ALS-FTD spectrum disorders

ALS-FTD谱系障碍患者自发性言语中运动性言语障碍的数字标记

Shellikeri, Sanjana; Cho, Sunghye; Ash, Sharon; Gonzalez-Recober, Carmen; Mcmillan, Corey T; Elman, Lauren; Quinn, Colin; Amado, Defne A; Baer, Michael; Irwin, David J; Massimo, Lauren; Olm, Christopher A; Liberman, Mark Y; Grossman, Murray; Nevler, Naomi

Mapping PTBP2 binding in human brain identifies SYNGAP1 as a target for therapeutic splice switching

通过绘制人脑中 PTBP2 的结合图谱,确定 SYNGAP1 是治疗性剪接转换的靶点。

Jennine M Dawicki-McKenna # ,Alex J Felix # ,Elisa A Waxman ,Congsheng Cheng ,Defne A Amado ,Paul T Ranum ,Alexey Bogush ,Lea V Dungan ,Jean Ann Maguire ,Alyssa L Gagne ,Elizabeth A Heller ,Deborah L French ,Beverly L Davidson ,Benjamin L Prosser

Biventricular Assist Device Support for Intractable Arrhythmias From Histiocytoid Cardiomyopathy

双心室辅助装置支持治疗组织细胞样心肌病引起的难治性心律失常

Magnetta, Defne A; Reichhold, Allison; Thrush, Philip T; Monge, Michael; Webster, Gregory; Joong, Anna