Pre-natal manifestation of systemic developmental abnormalities in spinal muscular atrophy

Spinal muscular atrophy (SMA) is a neuromuscular disease caused by mutations in survival motor neuron 1 (SMN1). SMN-restoring therapies have recently emerged; however, preclinical and clinical studies revealed a limited therapeutic time window and systemic aspects of the disease. This raises a funda...

詳細記述

保存先:
書誌詳細
出版年:Hum Mol Genet
主要な著者: Motyl, Anna A L, Faller, Kiterie M E, Groen, Ewout J N, Kline, Rachel A, Eaton, Samantha L, Ledahawsky, Leire M, Chaytow, Helena, Lamont, Douglas J, Wishart, Thomas M, Huang, Yu-Ting, Gillingwater, Thomas H
フォーマット: Artigo
言語:Inglês
出版事項: Oxford University Press 2020
主題:
General Article
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC7530529/
https://ncbi.nlm.nih.gov/pubmed/32644120
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddaa146
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