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Risdiplam distributes and increases SMN protein in both the central nervous system and peripheral organs

Spinal muscular atrophy (SMA) is a rare, inherited neuromuscular disease caused by deletion and/or mutation of the Survival of Motor Neuron 1 (SMN1) gene. A second gene, SMN2, produces low levels of functional SMN protein that are insufficient to fully compensate for the lack of SMN1. Risdiplam (RG7...

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Detalles Bibliográficos
Autores principales:	Poirier, Agnès, Weetall, Marla, Heinig, Katja, Bucheli, Franz, Schoenlein, Kerstin, Alsenz, Jochem, Bassett, Simon, Ullah, Mohammed, Senn, Claudia, Ratni, Hasane, Naryshkin, Nikolai, Paushkin, Sergey, Mueller, Lutz
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2018
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6262736/ https://www.ncbi.nlm.nih.gov/pubmed/30519476 http://dx.doi.org/10.1002/prp2.447

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