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

Non-invasive tracking of rAAV-mediated gene expression in the liver through a genetically encoded MRI reporter gene

利用基因编码的MRI报告基因对肝脏中rAAV介导的基因表达进行非侵入性追踪

Mohanta, Zinia; Singh, Aruna; Lopez-Bertoni, Hernando; Sall, Sophie; Stabinska, Julia; Manoli, Irini; Vernon, Hilary; Venditti, Charles P; Gilad, Assaf A; McMahon, Michael T

Adeno-Associated Virus Gene Therapy Development: Early Planning and Regulatory Considerations to Advance the Platform Vector Gene Therapy Program

腺相关病毒基因治疗开发:推进平台载体基因治疗项目的早期规划和监管考量

Lomash, Richa Madan; Dehdashti, Jean; Shchelochkov, Oleg A; Chandler, Randy J; Li, Lina; Manoli, Irini; Sloan, Jennifer L; Terse, Pramod; Xu, Xin; Saade, Dimah; Stan, Rodica; Brooks, Philip J; Lo, Donald C; Bönnemann, Carsten G; Venditti, Charles P; Pariser, Anne R; Ottinger, Elizabeth A

Multimodality Craniofacial Phenotyping of Congenital Facial Weakness Disorders

先天性面部无力障碍的多模态颅面表型分析

Almpani, Konstantinia; Devine, Katelin R; Liberton, Denise K; Mishra, Rashmi; Bassim, Carol; Van Ryzin, Carol; Facio, Flavia M; Webb, Bryn D; Barry, Brenda J; Engle, Elizabeth C; Wang Jabs, Ethylin; Collins, Francis S; Manoli, Irini; Lee, Janice S

Systematic phenotype and genotype characterization of Moebius syndrome

莫比乌斯综合征的系统性表型和基因型特征分析

Webb, Bryn D; Jurgens, Julie A; Narisu, Narisu; Zhang, Zhongyang; Barry, Brenda J; Van Ryzin, Carol; Bonnycastle, Lori L; Chan, Wai-Man; Yan, Tingfen; Di Gioia, Silvio Alessandro; Swift, Amy J; MacKinnon, Sarah E; Oystreck, Darren T; Rucker, Janet C; Frempong, Tamiesha; Whitman, Mary C; FitzGibbon, Edmond J; Lee, Janice S; Hao, Ke; Andrews, Caroline; Erazo, Monica; Facio, Flavia M; Shaaban, Sherin; Naidich, Thomas P; Chines, Peter S; Lehky, Tanya J; Toro, Camilo; Gropman, Andrea L; Butman, John A; Zalewski, Christopher K; Brewer, Carmen C; Thurm, Audrey; Snow, Joseph; Paul, Scott M; Brooks, Brian P; Pierpaoli, Carlo; Robson, Caroline D; Hunter, David G; Collins, Francis S; Jabs, Ethylin Wang; Engle, Elizabeth C; Manoli, Irini

Lipodystrophy in methylmalonic acidemia associated with elevated FGF21 and abnormal methylmalonylation

甲基丙二酸血症伴脂肪营养不良与FGF21升高和甲基丙二酰化异常有关

Manoli, Irini; Sysol, Justin R; Head, PamelaSara E; Epping, Madeline W; Gavrilova, Oksana; Crocker, Melissa K; Sloan, Jennifer L; Koutsoukos, Stefanos A; Wang, Cindy; Ktena, Yiouli P; Mendelson, Sophia; Pass, Alexandra R; Zerfas, Patricia M; Hoffmann, Victoria; Vernon, Hilary J; Fletcher, Laura A; Reynolds, James C; Tsokos, Maria G; Stratakis, Constantine A; Voss, Stephan D; Chen, Kong Y; Brown, Rebecca J; Hamosh, Ada; Berry, Gerard T; Chen, Xiaoyuan Shawn; Yanovski, Jack A; Venditti, Charles P

Severe heart failure in a unique case of cobalamin-C-deficiency resolved with LVAD implantation and subsequent heart transplantation

一例罕见的钴胺素C缺乏症引起的严重心力衰竭,经左心室辅助装置植入和随后的心脏移植手术后得到缓解。

Hjalmarsson, Clara; Backelin, Charlotte; Thoren, Anders; Bergh, Niklas; Sloan, Jennifer L; Manoli, Irini; Venditti, Charles P; Dellgren, Göran

Oral Health-Related Quality of Life in Rare Disorders of Congenital Facial Weakness

罕见先天性面部无力疾病患者的口腔健康相关生活质量

Liberton, Denise K; Almpani, Konstantinia; Mishra, Rashmi; Bassim, Carol; Van Ryzin, Carol; On Behalf Of The Moebius Syndrome Research Consortium; Webb, Bryn D; Jabs, Ethylin Wang; Engle, Elizabeth C; Collins, Francis S; Manoli, Irini; Lee, Janice S

Biomarkers to predict disease progression and therapeutic response in isolated methylmalonic acidemia

用于预测孤立性甲基丙二酸血症疾病进展和治疗反应的生物标志物

Manoli, Irini; Gebremariam, Abigael; McCoy, Samantha; Pass, Alexandra R; Gagné, Jack; Hall, Camryn; Ferry, Susan; Van Ryzin, Carol; Sloan, Jennifer L; Sacchetti, Elisa; Catesini, Giulio; Rizzo, Cristiano; Martinelli, Diego; Spada, Marco; Dionisi-Vici, Carlo; Venditti, Charles P

Inability to move one's face dampens facial expression perception

面部活动受限会削弱对面部表情的感知。

Japee, Shruti; Jordan, Jessica; Licht, Judith; Lokey, Savannah; Chen, Gang; Snow, Joseph; Jabs, Ethylin Wang; Webb, Bryn D; Engle, Elizabeth C; Manoli, Irini; Baker, Chris; Ungerleider, Leslie G

Diagnosis and discovery: Insights from the NIH Undiagnosed Diseases Program

诊断与发现:来自美国国立卫生研究院未确诊疾病项目的启示

Montano, Carolina; Cassini, Thomas; Ziegler, Shira G; Boehm, Manfred; Nicoli, Elena-Raluca; Mindell, Joseph A; Soldatos, Ariane G; Manoli, Irini; Wolfe, Lynne; Macnamara, Ellen F; Malicdan, May Christine V; Adams, David R; Tifft, Cynthia J; Toro, Camilo; Gahl, William A