Jutta Becker on Muck Rack

Jutta Becker

As seen in: The American Journal of Human Genetics
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Articles

SMN1 variants identified by false-positive SMA newborn screening tests: Therapeutic hurdles and functional and epidemiological solutions

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By Brunhilde Wirth, Joyosmita Das, Heike Kölbel, Shuxiang Goh, Michelle A. Farrar, Valentina Piano, Sebastian Zetzsche, Nico Fuhrmann, Jutta Becker, Mert Karakaya, Yougang Zhang, Yuqing Cao, Afsaneh Taghipour-Sheshdeh, Brett W. Stringer, Jean Giacomotto
| The American Journal of Human Genetics
Keywords spinal muscular atrophy SMN1 newborn screening variant interpretation functional studies zebrafish model false positive genetic SMN2 genetic epidemiology thermostability assay Main text Spinal muscular atrophy (SMA) is a common autosomal-recessive neuromuscular disorder characterized by progressive degeneration of motor neurons, leading to muscle atrophy.
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