A Novel System for Spinal Muscular Atrophy Screening in Newborns: Japanese Pilot Study

Spinal muscular atrophy (SMA) is a neuromuscular disorder caused by SMN1 gene deletion/mutation. The drug nusinersen modifies SMN2 mRNA splicing, increasing the production of the full-length SMN protein. Recent studies have demonstrated the beneficial effects of nusinersen in patients with SMA, part...

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Detalles Bibliográficos
Autores principales: Shinohara, Masakazu, Niba, Emma Tabe Eko, Wijaya, Yogik Onky Silvana, Takayama, Izumi, Mitsuishi, Chisako, Kumasaka, Sakae, Kondo, Yoichi, Takatera, Akihiro, Hokuto, Isamu, Morioka, Ichiro, Ogiwara, Kazutaka, Tobita, Kimimasa, Takeuchi, Atsuko, Nishio, Hisahide
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7510215/
https://www.ncbi.nlm.nih.gov/pubmed/33072999
http://dx.doi.org/10.3390/ijns5040041

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7510215/
https://www.ncbi.nlm.nih.gov/pubmed/33072999
http://dx.doi.org/10.3390/ijns5040041

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