1. 188 SUNFISH 3-year efficacy and safety of risdiplam in types 2 and 3 SMA. Issue 9 (12th August 2022) Authors: Servais, Laurent; Day, John W; Mazzone, Elena S; Nascimento, Andres; Oskoui, Maryam; Baranello, Giovanni; Gerber, Marianne; Martin, Carmen; Yeung, Wai Yin; Mercuri, Eugenio Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 93:Issue 9(2022) Page Start: e2 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. A New Self-Report Quality of Life Questionnaire for Children With Neuromuscular Disorders: Presentation of the Instrument, Rationale for Its Development, and Some Preliminary Results. (February 2014) Authors: Orcesi, Simona; Ariaudo, Giada; Mercuri, Eugenio; Beghi, Ettore; Rezzani, Cristiana; Balottin, Umberto Journal: Journal of child neurology Issue: Volume 29:Number 2(2014:Feb.) Page Start: 167 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. An observational study of functional abilities in infants, children, and adults with type 1 SMA. (21st August 2018) Authors: Pane, Marika; Palermo, Concetta; Messina, Sonia; Sansone, Valeria A.; Bruno, Claudio; Catteruccia, Michela; Sframeli, Maria; Albamonte, Emilio; Pedemonte, Marina; D'Amico, Adele; Brigati, Giorgia; de Sanctis, Roberto; Coratti, Giorgia; Lucibello, Simona; Bertini, Enrico; Vita, Giuseppe; Danilo Ti... Journal: Neurology Issue: Volume 91:Number 8(2018) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. An unusual ryanodine receptor 1 (RYR1) phenotype: Mild calf-predominant myopathy. (2nd April 2019) Authors: Jokela, Manu; Tasca, Giorgio; Vihola, Anna; Mercuri, Eugenio; Jonson, Per-Harald; Lehtinen, Sara; Välipakka, Salla; Pane, Marika; Donati, Maria; Johari, Mridul; Savarese, Marco; Huovinen, Sanna; Isohanni, Pirjo; Palmio, Johanna; Hartikainen, Päivi; Udd, Bjarne Journal: Neurology Issue: Volume 92:Number 14(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial. Issue 10101 (23rd September 2017) Authors: McDonald, Craig M; Campbell, Craig; Torricelli, Ricardo Erazo; Finkel, Richard S; Flanigan, Kevin M; Goemans, Nathalie; Heydemann, Peter; Kaminska, Anna; Kirschner, Janbernd; Muntoni, Francesco; Osorio, Andrés Nascimento; Schara, Ulrike; Sejersen, Thomas; Shieh, Perry B; Sweeney, H Lee; Topaloglu... Journal: Lancet Issue: Volume 390:Issue 10101(2017) Page Start: 1489 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Ataluren treatment of patients with nonsense mutation dystrophinopathy. Issue 4 (October 2014) Authors: Bushby, Katharine; Finkel, Richard; Wong, Brenda; Barohn, Richard; Campbell, Craig; Comi, Giacomo P.; Connolly, Anne M.; Day, John W.; Flanigan, Kevin M.; Goemans, Nathalie; Jones, Kristi J.; Mercuri, Eugenio; Quinlivan, Ros; Renfroe, James B.; Russman, Barry; Ryan, Monique M.; Tulinius, Mar; Voi... Journal: Muscle & nerve Issue: Volume 50:Issue 4(2014:Oct.) Page Start: 477 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Basal ganglia damage and impaired visual function in the newborn infant. Issue 2 (1st September 1997) Authors: Mercuri, Eugenio; Atkinson, Janette; Braddick, Oliver; Anker, Shirley; Cowan, Frances; Rutherford, Mary; Pennock, Jackie; Dubowitz, Lilly Journal: Archives of disease in childhood Issue: Volume 77:Issue 2(1997) Page Start: F111 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Behavioral Profile in RASopathies. Issue 4 (23rd January 2014) Authors: Alfieri, Paolo; Piccini, Giorgia; Caciolo, Cristina; Perrino, Francesca; Gambardella, Maria Luigia; Mallardi, Maria; Cesarini, Laura; Leoni, Chiara; Leone, Daniela; Fossati, Chiara; Selicorni, Angelo; Digilio, Maria Cristina; Tartaglia, Marco; Mercuri, Eugenio; Zampino, Giuseppe; Vicari, Stefano Journal: American journal of medical genetics Issue: Volume 164:Issue 4(2014.) Page Start: 934 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Book Review: Beyond the Neonatal Intensive Care Unit Edited By Linda S.deVries and Inge‐LotvanHaastertAmersfoot: Boiten Grafisch Ontwerpers, 2013 $125.00 (Hardcover), pp 240. ISBN: 978‐9039360477. (7th March 2014) Authors: Mercuri, Eugenio Journal: Developmental medicine & child neurology Issue: Volume 56:Number 6(2014:Jun.) Page Start: 240 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗