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Review

Spinal muscular atrophy: molecular genetics and diagnostics

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Pages 15-29 | Published online: 09 Jan 2014

Keep up to date with the latest research on this topic with citation updates for this article.

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Kai-Chen Wang, Chiao-Yuan Fang, Chi-Chang Chang, Chien-Kuan Chiang & Yi-Wen Chen. (2021) A rapid molecular diagnostic method for spinal muscular atrophy. Journal of Neurogenetics 35:1, pages 29-32.
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Daniel C. Malone, Rebecca Dean, Ramesh Arjunji, Ivar Jensen, Phil Cyr, Beckley Miller, Benit Maru, Douglas M. Sproule, Douglas E. Feltner & Omar Dabbous. (2019) Cost-effectiveness analysis of using onasemnogene abeparvocec (AVXS-101) in spinal muscular atrophy type 1 patients. Journal of Market Access & Health Policy 7:1.
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Jolien Roovers, Peter De Jonghe & Sarah Weckhuysen. (2018) The therapeutic potential of RNA regulation in neurological disorders. Expert Opinion on Therapeutic Targets 22:12, pages 1017-1028.
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Qing Huo, Melis Kayikci, Philipp Odermatt, Kathrin Meyer, Olivia Michels, Smita Saxena, Jernej Ule & Daniel Schümperli. (2014) Splicing changes in SMA mouse motoneurons and SMN-depleted neuroblastoma cells: Evidence for involvement of splicing regulatory proteins. RNA Biology 11:11, pages 1430-1446.
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Sheng-Wen Shaw, Sheng-Wen Shaw, Po-Jen Cheng, Sheng-Wen Shaw, Po-Jen Cheng, Shuenn-Dhy Chang, Yu-Ting Lin, Chia-Cheng Hung, Chih-Ping Chen & Yi-Ning Su. (2008) Rapid prenatal diagnosis of spinal muscular atrophy by denaturing high-performance liquid chromatography system. Acta Obstetricia et Gynecologica Scandinavica 87:9, pages 960-968.
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