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American Journal of Human Genetics|February 22, 2023
Development of an oral treatment that rescues gait ataxia and retinal degeneration in a phenotypic mouse model of familial dysautonomiaElisabetta Morini, Anil Chekuri, Emily M Logan, et al.
Journal of Medicinal Chemistry|June 15, 2016
Discovery and Optimization of Small Molecule Splicing Modifiers of Survival Motor Neuron 2 as a Treatment for Spinal Muscular AtrophyMatthew G Woll, Hongyan Qi, Anthony Turpoff, et al.
Nature Communications|June 8, 2021
A deep learning approach to identify gene targets of a therapeutic for human splicing disordersDadi Gao, Elisabetta Morini, Monica Salani, et al.
Nature Communications|December 16, 2021
Small molecule splicing modifiers with systemic HTT-lowering activityAnuradha Bhattacharyya, Christopher R Trotta, Jana Narasimhan, et al.
Biorxiv : the Preprint Server for Biology|July 14, 2025
MAPT Splicing Modulators as a Therapeutic Strategy for TauopathiesM Catarina Silva, Hannah Lindmeier, Paolo Pigini, et al.
Science (New York, N.Y.)|August 9, 2014
Motor neuron disease. SMN2 splicing modifiers improve motor function and longevity in mice with spinal muscular atrophyNikolai A Naryshkin, Marla Weetall, Amal Dakka, et al.
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