1. 131 Pooled safety data from the risdiplam clinical trial development programme. Issue 6 (27th May 2022) Authors: Servais, Laurent; Baranello, Giovanni; Chiriboga, Claudia; Darras, Basil; Bader-Weder, Silvia; Gorni, Ksenija; Jaber, Birgit; McIver, Tammy; Scalco, Renata Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 93:Issue 6(2022) Page Start: A142 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. 255 SUNFISH part 2: risdiplam in type 2 and type 3 SMA. Issue 6 (27th May 2022) Authors: Servais, Laurent; Mercuri, Eugenio; Barisic, Nina; Boespflug-Tanguy, Odile; Deconinck, Nicolas; Fuerst-Recktenwald, Sabine; Fuhrer, Sibylle; Gerber, Marianne; Gorni, Ksenija; Day, John W Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 93:Issue 6(2022) Page Start: A87 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. 256 FIREFISH part 2: risdiplam efficacy and safety in type 1 SMA. Issue 6 (27th May 2022) Authors: Baranello, Giovanni; Servais, Laurent; Masson, Riccardo; Mazurkiewicz-Bełdzińska, Maria; Khairi, Muna El-; Fuerst-Recktenwald, Sabine; Gerber, Marianne; Gorni, Ksenija; Darras, Basil T Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 93:Issue 6(2022) Page Start: A87 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Distribution of weight, stature, and growth status in children and adolescents with spinal muscular atrophy: An observational retrospective study in the United States. Issue 1 (11th May 2022) Authors: Darras, Basil T.; Guye, Sabrina; Hoffart, Janine; Schneider, Sophie; Gravestock, Isaac; Gorni, Ksenija; Fuerst‐Recktenwald, Sabine; Scalco, Renata S.; Finkel, Richard S.; De Vivo, Darryl C. Journal: Muscle & nerve Issue: Volume 66:Issue 1(2022) Page Start: 84 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Long-term effects of glucocorticoids on function, quality of life, and survival in patients with Duchenne muscular dystrophy: a prospective cohort study. Issue 10119 (3rd February 2018) Authors: McDonald, Craig M; Henricson, Erik K; Abresch, Richard T; Duong, Tina; Joyce, Nanette C; Hu, Fengming; Clemens, Paula R; Hoffman, Eric P; Cnaan, Avital; Gordish-Dressman, Heather; Vishwanathan, Vijay; Chidambaranathan, S; Biggar, W. Douglas; McAdam, Laura C.; Mah, Jean K.; Tulinius, Mar; Cnaan, A... Journal: Lancet Issue: Volume 391:Issue 10119(2018) Page Start: 451 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. 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) ↗
7. 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) ↗
8. Prevalence of congenital muscular dystrophy in Italy: A population study. (3rd March 2015) Authors: Graziano, Alessandra; Bianco, Flaviana; D'Amico, Adele; Moroni, Isabella; Messina, Sonia; Bruno, Claudio; Pegoraro, Elena; Mora, Marina; Astrea, Guja; Magri, Francesca; Comi, Giacomo P.; Berardinelli, Angela; Moggio, Maurizio; Morandi, Lucia; Pini, Antonella; Petillo, Roberta; Tasca, Giorgio; Mon... Journal: Neurology Issue: Volume 84:Number 9(2015) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Prognostic Factors and Treatment‐Effect Modifiers in Spinal Muscular Atrophy. Issue 6 (5th June 2021) Authors: Baranello, Giovanni; Gorni, Ksenija; Daigl, Monica; Kotzeva, Anna; Evans, Rachel; Hawkins, Neil; Scott, David A.; Mahajan, Anadi; Muntoni, Francesco; Servais, Laurent Journal: Clinical pharmacology & therapeutics Issue: Volume 110:Issue 6(2021) Page Start: 1435 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Risdiplam treatment has not led to retinal toxicity in patients with spinal muscular atrophy. Issue 1 (24th November 2020) Authors: Sergott, Robert C.; Amorelli, Giulia M.; Baranello, Giovanni; Barreau, Emmanuel; Beres, Shannon; Kane, Steven; Mercuri, Eugenio; Orazi, Lorenzo; SantaMaria, Melissa; Tremolada, Gemma; Santarsiero, Diletta; Waskowska, Agnieszka; Yashiro, Shigeko; Denk, Nora; Fürst‐Recktenwald, Sabine; Gerber, Mari... Journal: Annals of clinical and translational neurology Issue: Volume 8:Issue 1(2021) Page Start: 54 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗