Last Updated: 09/26/2026
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Found 48 publications
The ILLUMINATE natural history study in colony-stimulating factor 1 receptor-related adult-onset leukoencephalopathy with axonal spheroids and pigmented glia.
Journal: Brain communications
Published: August 12, 2025
WOOD PREDICTORS IN NEOTROPICAL STREAMS: ASSESSING THE EFFECTS OF REGIONAL AND LOCAL CONTROLS IN AMAZON AND CERRADO CATCHMENTS.
Journal: Earth surface processes and landforms
Published: November 11, 2022
Experimental Neurotherapeutics: Surfing the Tidal Wave of New Opportunities.
Journal: Annals of neurology
Published: May 05, 2022
Clinical Design and Analysis Strategies for the Development of Gene Therapies: Considerations for Quantitative Drug Development in the Age of Genetic Medicine.
Journal: Clinical pharmacology and therapeutics
Published: January 19, 2021
Biodistribution of onasemnogene abeparvovec DNA, mRNA and SMN protein in human tissue.
Journal: Nature medicine
Published: November 11, 2020
Hepatotoxicity following administration of onasemnogene abeparvovec (AVXS-101) for the treatment of spinal muscular atrophy.
Journal: Journal of hepatology
Published: July 30, 2020
A call for global action for rare diseases in Africa.
Journal: Nature genetics
Published: December 25, 2019
Model consent clauses for rare disease research.
Journal: BMC medical ethics
Published: January 08, 2019
Resources to assist in the transition to a single IRB model for multisite clinical trials.
Journal: Contemporary clinical trials communications
Published: September 20, 2018
Privacy-Preserving Linkage of Genomic and Clinical Data Sets.
Journal: IEEE/ACM transactions on computational biology and bioinformatics
Published: July 31, 2018
From scientific discovery to treatments for rare diseases - the view from the National Center for Advancing Translational Sciences - Office of Rare Diseases Research.
Journal: Orphanet journal of rare diseases
Published: May 21, 2018
Facilitating Clinical Studies in Rare Diseases.
Journal: Advances in experimental medicine and biology
Published: December 08, 2017
Last Updated: 09/26/2026