1. Natural history of Type 2 and 3 spinal muscular atrophy: 2‐year NatHis‐SMA study. Issue 2 (24th December 2020) Authors: Annoussamy, Mélanie; Seferian, Andreea M.; Daron, Aurore; Péréon, Yann; Cances, Claude; Vuillerot, Carole; De Waele, Liesbeth; Laugel, Vincent; Schara, Ulrike; Gidaro, Teresa; Lilien, Charlotte; Hogrel, Jean‐Yves; Carlier, Pierre; Fournier, Emmanuel; Lowes, Linda; Gorni, Ksenija; Ly‐Le Moal, Myri... Journal: Annals of clinical and translational neurology Issue: Volume 8:Issue 2(2021) Page Start: 359 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Oral SMN2 splicing modifiers in spinal muscular atrophy: Proof-of-mechanism and ongoing clinical studies. (June 2017) Authors: Marquet, Anne; Sturm, Stefan; Kletzl, Heidemarie; Günther, Andreas; Czech, Christian; Poirier, Agnes; Seabrook, Timothy; Müller, Lutz; Kinch, Russell; Ratni, Hasane; Gorni, Ksenija; Metzger, Friedrich; Khwaja, Omar Journal: European journal of paediatric neurology Issue: Volume 21(2017)Supplement 1 Page Start: e226 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Safety and efficacy of risdiplam in patients with type 1 spinal muscular atrophy (FIREFISH part 2): secondary analyses from an open-label trial. Issue 12 (December 2022) Authors: Masson, Riccardo; Mazurkiewicz-Bełdzińska, Maria; Rose, Kristy; Servais, Laurent; Xiong, Hui; Zanoteli, Edmar; Baranello, Giovanni; Bruno, Claudio; Day, John W; Deconinck, Nicolas; Klein, Andrea; Mercuri, Eugenio; Vlodavets, Dmitry; Wang, Yi; Dodman, Angela; El-Khairi, Muna; Gorni, Ksenija; Jaber... Journal: Lancet neurology Issue: Volume 21:Issue 12(2022) Page Start: 1110 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗