Article

Quantification of the Number of Nuclear Gems as a Potential Biomarker for Spinal Muscular Atrophy

2023-09-22

Abstract excerpt

Spinal muscular atrophy is a neuromuscular disorder caused by mutationsin both copies of the survival motor neuron gene 1 (SMN1) which lead to reduction in the production of the SMN protein. Currently, there are several therapies that have been approved for SMA, with much more undergoing active research. While various biomarkers have been proposed for assessing the effectiveness of SMA treatment, a universally acc...

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Literature Corpus work: 8aa0ab26-4855-5c35-bca8-5102f5129f05
DOI: 10.20944/preprints202309.1527.v1

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