The Genetics of Spinal Muscular Atrophy: Progress and Challenges
Author:
Publisher
Springer Science and Business Media LLC
Subject
Pharmacology (medical),Neurology (clinical),Pharmacology
Link
http://link.springer.com/content/pdf/10.1007/s13311-014-0314-x.pdf
Reference129 articles.
1. Lefebvre S, Burglen L, Reboullet S, et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell 1995;80:155-165.
2. Pearn J. Incidence, prevalence, and gene frequency studies of chronic childhood spinal muscular atrophy. J Med Genet 1978;15:409-413.
3. Russman BS. Spinal muscular atrophy: clinical classification and disease heterogeneity. J Child Neurol 2007;22:946-951.
4. Dressman D, Ahearn ME, Yariz KO, et al. X-linked infantile spinal muscular atrophy: clinical definition and molecular mapping. Genet Med 2007;9:52-60.
5. Ramser J, Ahearn ME, Lenski C, et al. Rare missense and synonymous variants in UBE1 are associated with X-linked infantile spinal muscular atrophy. Am J Hum Genet 2008;82:188-193.
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