Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1007/s00439-006-0156-7.pdf
Reference37 articles.
1. Andreassi C, Angelozzi C, Tiziano FD, Vitali T, De Vincenzi E, Boninsegna A, Villanova M, Bertini E, Pini A, Neri G, Brahe C (2004) Phenylbutyrate increases SMN expression in vitro: relevance for treatment of spinal muscular atrophy. Eur J Hum Genet 12:59–65
2. Brahe C, Zappata S, Velona I, Bertini E, Servidei S, Tonali P, Neri G (1993) Presymptomatic diagnosis of SMA III by genotype analysis. Am J Med Genet 45:408–411
3. Brahe C, Servidei S, Zappata S, Ricci E, Tonali P, Neri G (1995) Genetic homogeneity between childhood-onset and adult-onset autosomal recessive spinal muscular atrophy. Lancet 346:741–742
4. Brahe C, Vitali T, Tiziano FD, Angelozzi C, Pinto AM, Borgo F, Moscato U, Bertini E, Mercuri E, Neri G (2005) Phenylbutyrate increases SMN gene expression in spinal muscular atrophy patients. Eur J Hum Genet 13:256–259
5. Brichta L, Hofmann Y, Hahnen E, Siebzehnrubl FA, Raschke H, Blumcke I, Eyupoglu IY, Wirth B (2003) Valproic acid increases the SMN2 protein level: a well-known drug as a potential therapy for spinal muscular atrophy. Hum Mol Genet 12:2481–2489
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