Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick?
Author:
Publisher
Springer Science and Business Media LLC
Subject
General Neuroscience
Link
http://www.nature.com/articles/nrn2670.pdf
Reference171 articles.
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2. Roberts, D. F., Chavez, J. & Court, S. D. The genetic component in child mortality. Arch. Dis. Child. 45, 33–38 (1970).
3. Pearn, J. Incidence, prevalence, and gene frequency studies of chronic childhood spinal muscular atrophy. J. Med. Genet. 15, 409–413 (1978).
4. Melki, J. Spinal muscular atrophy. Curr. Opin. Neurol. 10, 381–385 (1997).
5. McAndrew, P. E. et al. Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number. Am. J. Hum. Genet. 60, 1411–1422 (1997). The first analysis of SMN1 and SMN2 copy number and a clear indication that copy number of SMN2 modifies SMA phenotype.
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