Detalhe da pesquisa
1.
Homozygous dystroglycan mutation associated with a novel muscle-eye-brain disease-like phenotype with multicystic leucodystrophy.
Neurogenetics
; 14(3-4): 205-13, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-24052401
2.
Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-years SMArtCARE registry study.
Orphanet J Rare Dis
; 17(1): 384, 2022 10 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-36274155
3.
Treatment with Nusinersen - Challenges Regarding the Indication for Children with SMA Type 1.
J Neuromuscul Dis
; 7(1): 41-46, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-31744015