Spinal muscular atrophy
Author:
Publisher
Springer Science and Business Media LLC
Subject
Pharmacology (medical),Neurology (clinical),Pharmacology
Link
http://www.springerlink.com/index/pdf/10.1016/j.nurt.2008.08.007
Reference74 articles.
1. Hoffmann J. Über chronische spinale Muskelatrophie im Kindesalter, auf familiärer Basis [On chronic spinal muscular atrophy in childhood, with a familial basis; in German]. Dtsch Z Nervenheilkd 1893;3: 427–470.
2. Werdnig G. Zwei frühinfantile hereditäre Fälle von progressiver Muskelatrophie unter dem Bilde der Dystrophie, aber auf neurotischer Grundlage [Two early infantile hereditary cases of progressive muscular atrophy simulating dystrophy, but on a neural basis; in German]. Arch Psychiatr Nervenkr 1891;22: 437–480.
3. Gilliam TC, Brzustowicz LM, Castilla LH, et al. Genetic homogeneity between acute and chronic forms of spinal muscular atrophy. Nature 1990;345: 823–825.
4. Lefebvre S, Bürglen L, Reboullet S, et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell 1995;80: 155–165.
5. Feldkötter M, Schwarzer V, Wirth R, Wienker TF, Wirth B. Quantitative analyses of SMN1 and SMN2 based on real-time LightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy. Am J Hum Genet 2002;70: 358–368.
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