Title: | Clinical phenotypes and trajectories of disease progression in type 1 spinal muscular atrophy |
Journal : | Neuromuscular disorders : NMD, 28, 1 |
Authors: | De Sanctis R ; Pane M ; Coratti G ; Palermo C ; Leone D ; Pera MC ; Abiusi E ; Fiori S ; Forcina N ; Fanelli L ; Lucibello S ; Mazzone ES ; Tiziano FD ; Mercuri E |
Material Type: | Article |
Publication Date: | 2018 |
Size: | p 24 |
Languages: | English |
Keywords : | children ; CHOP INTEND motor function scale ; clinical variations ; disease evolution ; disease natural history ; disease severity ; phenotypic heterogeneity ; proximal spinal muscular atrophy type 1 ; retrospective studies ; SMN2 gene |
Keywords: | Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders;Neuromuscular disorders;Outcome measures;Spinal Muscular Atrophy;Werdnig-Hoffman disease; |
Pubmed / DOI : | DOI : 10.1016/j.nmd.2017.09.015 / Pubmed : 29174525 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/29174525 |