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Postsymptomatic restoration of SMN rescues the disease phenotype in a mouse model of severe spinal muscular atrophy

Spinal muscular atrophy (SMA) is a common neuromuscular disorder in humans. In fact, it is the most frequently inherited cause of infant mortality, being the result of mutations in the survival of motor neuron 1 (SMN1) gene that reduce levels of SMN protein. Restoring levels of SMN protein in indivi...

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Main Authors: Lutz, Cathleen M., Kariya, Shingo, Patruni, Sunita, Osborne, Melissa A., Liu, Don, Henderson, Christopher E., Li, Darrick K., Pellizzoni, Livio, Rojas, José, Valenzuela, David M., Murphy, Andrew J., Winberg, Margaret L., Monani, Umrao R.
Formato: Artigo
Idioma:Inglês
Publicado: American Society for Clinical Investigation 2011
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC3148744/
https://ncbi.nlm.nih.gov/pubmed/21785219
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI57291
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