Title: | Natural history of Type 1 spinal muscular atrophy: a retrospective, global, multicenter study |
Journal : | Orphanet journal of rare diseases, 17, 1 |
Authors: | Cances C ; Vlodavets D ; Comi GP ; Masson R ; Mazurkiewicz Beldzinska M ; Saito K ; Zanoteli E ; Dodman A ; El-Khairi M ; Gorni K ; Gravestock I ; Hoffart J ; Scalco RS ; Darras BT |
Material Type: | Article |
Publication Date: | 29/07/2022 |
Size: | p 300 |
Languages: | English |
Keywords : | children ; disease natural history ; multicenter studies ; proximal spinal muscular atrophy type 1 ; retrospective studies ; risdiplam ; SMN1-related proximal spinal muscular atrophy ; spinal muscular atrophy |
Keywords: | ANCHOVY ; FIREFISH ; SMA natural history ; Spinal muscular atrophy ; Type 1 SMA ; |
Pubmed / DOI : | Pubmed : 35906608 / DOI : 10.1186/s13023-022-02455-x |
N° Profil MNM : | 2022081 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/35906608 |