1. Adults with spinal muscular atrophy: a large-scale natural history study shows gender effect on disease. Issue 12 (11th October 2022) Authors: Maggi, Lorenzo; Bello, Luca; Bonanno, Silvia; Govoni, Alessandra; Caponnetto, Claudia; Passamano, Luigia; Grandis, Marina; Trojsi, Francesca; Cerri, Federica; Gardani, Alice; Ferraro, Manfredi; Gadaleta, Giulio; Zangaro, Vittoria; Caumo, Luca; Maioli, Mariantonietta; Tanel, Raffaella; Saccani, El... Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 93:Issue 12(2022) Page Start: 1253 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. An integrated approach to the evaluation of patients with asymptomatic or minimally symptomatic hyperCKemia. Issue 1 (8th November 2021) Authors: Gemelli, Chiara; Traverso, Monica; Trevisan, Lucia; Fabbri, Sabrina; Scarsi, Elena; Carlini, Barbara; Prada, Valeria; Mongini, Tiziana; Ruggiero, Lucia; Patrone, Serena; Gallone, Salvatore; Iodice, Rosa; Pisciotta, Livia; Zara, Federico; Origone, Paola; Rota, Eugenia; Minetti, Carlo; Bruno, Claud... Journal: Muscle & nerve Issue: Volume 65:Issue 1(2022) Page Start: 96 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. 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) ↗
5. 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) ↗
6. Extending the clinical and mutational spectrum of TRIM32-related myopathies in a non-Hutterite population. Issue 4 (19th June 2018) Authors: Johnson, Katherine; De Ridder, Willem; Töpf, Ana; Bertoli, Marta; Phillips, Lauren; De Jonghe, Peter; Baets, Jonathan; Deconinck, Tine; Rakocevic Stojanovic, Vidosava; Perić, Stojan; Durmus, Hacer; Jamal-Omidi, Shirin; Nafissi, Shahriar; Mongini, Tiziana; Łusakowska, Anna; Busby, Mark; Miller, Ja... Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 90:Issue 4(2019) Page Start: 490 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Functional assessment tools in children with Pompe disease: A pilot comparative study to identify suitable outcome measures for the standard of care. (November 2018) Authors: Ricci, Federica; Brusa, Chiara; Rossi, Francesca; Rolle, Enrica; Placentino, Valeria; Berardinelli, Angela; Pagliardini, Veronica; Porta, Francesco; Spada, Marco; Mongini, Tiziana Journal: European journal of paediatric neurology Issue: Volume 22:Number 6(2018:Nov.) Page Start: 1103 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Genetic modifiers of respiratory function in Duchenne muscular dystrophy. Issue 5 (28th April 2020) Authors: Bello, Luca; D'Angelo, Grazia; Villa, Matteo; Fusto, Aurora; Vianello, Sara; Merlo, Beatrice; Sabbatini, Daniele; Barp, Andrea; Gandossini, Sandra; Magri, Francesca; Comi, Giacomo P.; Pedemonte, Marina; Tacchetti, Paola; Lanzillotta, Valentina; Trucco, Federica; D'Amico, Adele; Bertini, Enrico; A... Journal: Annals of clinical and translational neurology Issue: Volume 7:Issue 5(2020) Page Start: 786 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. 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) ↗
10. 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) ↗