par Finkel, Richard S;Mercuri, Eugenio;Darras, Basil T;Connolly, Anne M;Kuntz, Nancy L;Kirschner, Janbernd;Chiriboga, Claudia A;Saito, Kayoko;Deconinck, Nicolas 
;Tizzano, Eduardo;Topaloglu, Haluk;Tulinius, Már;Montes, Jacqueline;Glanzman, Allan M;Bishop, Kathie;Zhong, Z John;Gheuens, Sarah;Bennett, C Frank;Schneider, Eugene;Farwell, Wildon;De Vivo, Darryl C.;ENDEAR Study Group,
Référence The New England journal of medicine, 377, 18, page (1723-1732)
Publication Publié, 2017
;Tizzano, Eduardo;Topaloglu, Haluk;Tulinius, Már;Montes, Jacqueline;Glanzman, Allan M;Bishop, Kathie;Zhong, Z John;Gheuens, Sarah;Bennett, C Frank;Schneider, Eugene;Farwell, Wildon;De Vivo, Darryl C.;ENDEAR Study Group, Référence The New England journal of medicine, 377, 18, page (1723-1732)
Publication Publié, 2017
Article révisé par les pairs
| Résumé : | Spinal muscular atrophy is an autosomal recessive neuromuscular disorder that is caused by an insufficient level of survival motor neuron (SMN) protein. Nusinersen is an antisense oligonucleotide drug that modifies pre-messenger RNA splicing of the SMN2 gene and thus promotes increased production of full-length SMN protein. |
