Literature DB >> 31916364

Case of spinal muscular atrophy type 0 with mild prognosis.

Hiroki Kitaoka1, Yoshihiko Shitara1, Yumi Uchida1, Utako Kondo1, Isaku Omori1.   

Abstract

Entities:  

Keywords:  SMN gene; claw hand; neonatal hypotonia; nusinersen; paradoxical breathing

Year:  2020        PMID： 31916364     DOI： 10.1111/ped.14047

Source DB:  PubMed          Journal:  Pediatr Int        ISSN： 1328-8067            Impact factor:   1.524


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  2 in total

1.  Practical guidelines to manage discordant situations of SMN2 copy number in patients with spinal muscular atrophy.

Authors:  Ivon Cuscó; Sara Bernal; Laura Blasco-Pérez; Maite Calucho; Laura Alias; Pablo Fuentes-Prior; Eduardo F Tizzano
Journal:  Neurol Genet       Date:  2020-11-18

2.  Nusinersen in type 0 spinal muscular atrophy: should we treat?

Authors:  Eloisa Tiberi; Simonetta Costa; Marika Pane; Francesca Priolo; Roberto de Sanctis; Domenico Romeo; Francesco D Tiziano; Giorgio Conti; Giovanni Vento; Eugenio Mercuri
Journal:  Ann Clin Transl Neurol       Date:  2020-11-04       Impact factor: 5.430
  2 in total

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