Emerging treatment options for spinal muscular atrophy
Author:
Publisher
Springer Science and Business Media LLC
Subject
Neurology (clinical)
Link
http://link.springer.com/content/pdf/10.1007/s11940-009-0012-x.pdf
Reference63 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. Lorson CL, Hahnen E, Androphy EJ, Wirth B: A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy. Proc Natl Acad Sci U S A 1999, 96:6307–6311.
3. Monani UR, Lorson CL, Parsons DW, et al.: A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2. Hum Mol Genet 1999, 8:1177–1183.
4. Le TT, Pham LT, Butchbach ME, et al.: SMNDelta7, the major product of the centromeric survival motor neuron (SMN2) gene, extends survival in mice with spinal muscular atrophy and associates with full-length SMN. Hum Mol Genet 2005, 14:845–857.
5. Lorson CL, Strasswimmer J, Yao JM, et al.: SMN oligomerization defect correlates with spinal muscular atrophy severity. Nat Genet 1998, 19:63–66.
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