Ory, Daniel S.; Ottinger, Elizabeth A.; Farhat, Nicole Yanjanin; King, Kelly A.; Jiang, Xuntian; Weissfeld, Lisa; Berry-Kravis, Elizabeth; Davidson, Cristin D.; Bianconi, Simona; Keener, Lee Ann; Rao, Ravichandran; Soldatos, Ariane; Sidhu, Rohini; Walters, Kimberly A.; Xu, Xin; Thurm, Audrey; Solomon, Beth; Pavan, William J.; Machielse, Bernardus N.; Kao, Mark; Silber, Steven A.; Mckew, John C.; Brewer, Carmen C.; Vite, Charles H.; Walkley, Steven U.; Austin, Christopher P.; Porter, Forbes D.

Safety, pharmacokinetics and sialic acid production after oral administration of N-acetylmannosamine (ManNAc) to subjects with GNE myopathy

对GNE肌病患者口服N-乙酰甘露糖胺 (ManNAc) 后的安全性，药代动力学和唾液酸产生

MOLECULAR GENETICS AND METABOLISM

IF3.5

2017-09-0146

OAAI

High throughput cell-based assay for identification of glycolate oxidase inhibitors as a potential treatment for Primary Hyperoxaluria Type 1

SCIENTIFIC REPORTS

IF3.9

2016-09-2713

OAAI

High-Throughput Phenotypic Screening of Human Astrocytes to Identify Compounds That Protect Against Oxidative Stress

STEM CELLS TRANSLATIONAL MEDICINE

IF4.9

2016-03-3140

OAAI

Phase 1/2 evaluation of intrathecal 2-hydroxypropyl-β-cyclodextrin for the treatment of Niemann-Pick disease type C1

MOLECULAR GENETICS AND METABOLISM

IF3.5

2016-02-016

PREAI

Small molecule inhibition of group I p21-activated kinases in breast cancer induces apoptosis and potentiates the activity of microtubule stabilizing agents

BREAST CANCER RESEARCH

IF5.6

2015-04-2360

OAAI

Ong, Christy C.; Gierke, Sarah; Pitt, Cameron; Sagolla, Meredith; Cheng, Christine K.; Zhou, Wei; Jubb, Adrian M.; Strickland, Laura; Schmidt, Maike; Duron, Sergio G.; Campbell, David A.; Zheng, Wei; Dehdashti, Seameen; Shen, Min; Yang, Nora; Behnke, Mark L.; Huang, Wenwei; Mckew, John C.; Chernoff, Jonathan; Forrest, William F.; Haverty, Peter M.; Chin, Suet-Feung; Rakha, Emad A.; Green, Andrew R.; Ellis, Ian O.; Caldas, Carlos; O'Brien, Thomas; Friedman, Lori S.; Koeppen, Hartmut; Rudolph, Joachim; Hoeflich, Klaus P.

Financing translation: Analysis of the NCATS rare-diseases portfolio

SCIENCE TRANSLATIONAL MEDICINE

IF14.6

2015-02-2519

OAAI

Building a roadmap for developing combination therapies for Alzheimer's disease

EXPERT REVIEW OF NEUROTHERAPEUTICS

IF3.4

2015-02-2349

OAAI

Cellular distribution and mechanism of delta-tocopherol on reduction of lysosomal cholesterol accumulation in cells with Niemann-Pick disease type C

MOLECULAR GENETICS AND METABOLISM