Novel challenges in spinal muscular atrophy - How to screen and whom to treat?
Author:
Affiliation:
1. Division of Child Neurology and Metabolic Medicine; Center for Child and Adolescent Medicine; University Hospital Heidelberg; Heidelberg Germany
2. Department of Neurology; University Hospital Heidelberg; Heidelberg Germany
Publisher
Wiley
Subject
Clinical Neurology,General Neuroscience
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/acn3.689/fullpdf
Reference69 articles.
1. Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72,400 specimens;Sugarman;Eur J Hum Genet,2012
2. Spinal muscular atrophy;Lunn;Lancet,2008
3. Nusinersen versus sham control in infantile-onset spinal muscular atrophy;Finkel;N Engl J Med,2017
4. Nusinersen versus sham control in later-onset spinal muscular atrophy;Mercuri;N Engl J Med,2018
5. Advances in therapy for spinal muscular atrophy: promises and challenges;Groen;Nat Rev Neurol,2018
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