1. A CASQ1 founder mutation in three Italian families with protein aggregate myopathy and hyperCKaemia. Issue 9 (1st July 2015) Authors: Di Blasi, Claudia; Sansanelli, Serena; Ruggieri, Alessandra; Moriggi, Manuela; Vasso, Michele; D'Adamo, Adamo Pio; Blasevich, Flavia; Zanotti, Simona; Paolini, Cecilia; Protasi, Feliciano; Tezzon, Frediano; Gelfi, Cecilia; Morandi, Lucia; Pessia, Mauro; Mora, Marina Journal: Journal of medical genetics Issue: Volume 52:Issue 9(2015) Page Start: 617 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Botulinum toxin type A affects the transcriptome of cell cultures derived from muscle biopsies of controls and spastic patients. (August 2018) Authors: Zanotti, Simona; Kapetis, Dimos; Gibertini, Sara; Salerno, Franco; Ciusani, Emilio; Colombo, Chiara; Gronchi, Alessandro; Morandi, Lucia; Mantegazza, Renato; Molteni, Franco; Mora, Marina Journal: Toxicology in vitro Issue: Volume 50(2018) Page Start: 124 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Clinical expression of facioscapulohumeral muscular dystrophy in carriers of 1–3 D4Z4 reduced alleles: experience of the FSHD Italian National Registry. Issue 1 (5th January 2016) Authors: Nikolic, Ana; Ricci, Giulia; Sera, Francesco; Bucci, Elisabetta; Govi, Monica; Mele, Fabiano; Rossi, Marta; Ruggiero, Lucia; Vercelli, Liliana; Ravaglia, Sabrina; Brisca, Giacomo; Fiorillo, Chiara; Villa, Luisa; Maggi, Lorenzo; Cao, Michelangelo; D'Amico, Maria Chiara; Siciliano, Gabriele; Antoni... Journal: BMJ open Issue: Volume 6:Issue 1(2016) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1. Issue 12 (17th October 2014) Authors: Böhm, Johann; Chevessier, Frédéric; Koch, Catherine; Peche, G Arielle; Mora, Marina; Morandi, Lucia; Pasanisi, Barbara; Moroni, Isabella; Tasca, Giorgio; Fattori, Fabiana; Ricci, Enzo; Pénisson-Besnier, Isabelle; Nadaj-Pakleza, Aleksandra; Fardeau, Michel; Joshi, Pushpa Raj; Deschauer, Marcus; Ro... Journal: Journal of medical genetics Issue: Volume 51:Issue 12(2014) Page Start: 824 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Disruption of heart sarcoglycan complex and severe cardiomyopathy caused by β sarcoglycan mutations. Issue 2 (1st February 2000) Authors: Barresi, Rita; Di Blasi, Claudia; Negri, Tiziana; Brugnoni, Raffaella; Vitali, Andrea; Felisari, Giorgio; Salandi, Antonio; Daniel, Sergio; Cornelio, Ferdinando; Morandi, Lucia; Mora, Marina Journal: Journal of medical genetics Issue: Volume 37:Issue 2(2000) Page Start: 102 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Elevated TGF β2 serum levels in Emery-Dreifuss Muscular Dystrophy: Implications for myocyte and tenocyte differentiation and fibrogenic processes. (1st January 2018) Authors: Bernasconi, Pia; Carboni, Nicola; Ricci, Giulia; Siciliano, Gabriele; Politano, Luisa; Maggi, Lorenzo; Mongini, Tiziana; Vercelli, Liliana; Rodolico, Carmelo; Biagini, Elena; Boriani, Giuseppe; Ruggiero, Lucia; Santoro, Lucio; Schena, Elisa; Prencipe, Sabino; Evangelisti, Camilla; Pegoraro, Elena... Journal: Nucleus Issue: Volume 9:Number 1(2018) Page Start: 292 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Elevated TGF β2 serum levels in Emery-Dreifuss Muscular Dystrophy: Implications for myocyte and tenocyte differentiation and fibrogenic processes. (31st December 2018) Authors: Bernasconi, Pia; Carboni, Nicola; Ricci, Giulia; Siciliano, Gabriele; Politano, Luisa; Maggi, Lorenzo; Mongini, Tiziana; Vercelli, Liliana; Rodolico, Carmelo; Biagini, Elena; Boriani, Giuseppe; Ruggiero, Lucia; Santoro, Lucio; Schena, Elisa; Prencipe, Sabino; Evangelisti, Camilla; Pegoraro, Elena... Journal: Nucleus Issue: Volume 9:Number 1(2018) Page Start: 337 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Histologic muscular history in steroid-treated and untreated patients with Duchenne dystrophy. (24th November 2015) Authors: Peverelli, Lorenzo; Testolin, Silvia; Villa, Luisa; D'Amico, Adele; Petrini, Stefania; Favero, Chiara; Magri, Francesca; Morandi, Lucia; Mora, Marina; Mongini, Tiziana; Bertini, Enrico; Sciacco, Monica; Comi, Giacomo P.; Moggio, Maurizio Journal: Neurology Issue: Volume 85:Number 21(2015) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Longitudinal evaluation of SMN levels as biomarker for spinal muscular atrophy: results of a phase IIb double-blind study of salbutamol. Issue 5 (28th December 2018) Authors: Tiziano, Francesco Danilo; Lomastro, Rosa; Abiusi, Emanuela; Pasanisi, Maria Barbara; Di Pietro, Lorena; Fiori, Stefania; Baranello, Giovanni; Angelini, Corrado; Sorarù, Gianni; Gaiani, Alessandra; Mongini, Tiziana; Vercelli, Liliana; Mercuri, Eugenio; Vasco, Gessica; Pane, Marika; Vita, Giuseppe... Journal: Journal of medical genetics Issue: Volume 56:Issue 5(2019) Page Start: 293 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Perceived efficacy of salbutamol by persons with spinal muscular atrophy: A mixed methods study. Issue 5 (15th July 2016) Authors: Giovannetti, Ambra M.; Pasanisi, Maria Barbara; Černiauskaitė, Milda; Bussolino, Chiara; Leonardi, Matilde; Morandi, Lucia Journal: Muscle & nerve Issue: Volume 54:Issue 5(2016) Page Start: 843 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗