Spinal muscular atrophy — insights and challenges in the treatment era
Author:
Publisher
Springer Science and Business Media LLC
Subject
Cellular and Molecular Neuroscience,Neurology (clinical)
Link
https://www.nature.com/articles/s41582-020-00413-4.pdf
Reference115 articles.
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2. Sangare, M. et al. Genetics of low spinal muscular atrophy carrier frequency in sub-Saharan Africa. Ann. Neurol. 75, 525–532 (2014).
3. Cusin, V., Clermont, O., Gerard, B., Chantereau, D. & Elion, J. Prevalence of SMN1 deletion and duplication in carrier and normal populations: implication for genetic counselling. J. Med. Genet. 40, e39 (2003).
4. Vorster, E., Essop, F. B., Rodda, J. L. & Krause, A. Spinal muscular atrophy in the Black South African population: a matter of rearrangement? Front. Genet. 11, 54 (2020).
5. Dubowitz, V. Very severe spinal muscular atrophy (SMA type 0): an expanding clinical phenotype. Eur. J. Paediatr. Neurol. 3, 49–51 (1999).
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