Title: | Diagnostic journey in Spinal Muscular Atrophy: Is it still an odyssey? |
Journal : | PLoS ONE, 15, 3 |
Authors: | Pera MC ; Coratti G ; Berti B ; D'Amico A ; Sframeli M ; Albamonte E ; De Sanctis R ; Messina S ; Catteruccia M ; Brigati G ; Antonaci L ; Lucibello S ; Bruno C ; Sansone VA ; Bertini E ; Tiziano D ; Pane M ; Mercuri E |
Material Type: | Article |
Publication Date: | 03/2020 |
Languages: | English |
Keywords : | cohort studies ; early diagnosis ; Europe (geography) ; guidelines ; Italy ; pediatrics ; proximal spinal muscular atrophy type 1 ; proximal spinal muscular atrophy type 2 ; proximal spinal muscular atrophy type 3 ; SMN1-related proximal spinal muscular atrophy ; spinal muscular atrophy |
Pubmed / DOI : | Pubmed : 32203538 / DOI : 10.1371/journal.pone.0230677 |
N° Profil MNM : | 2020032 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/32203538 |