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. Affinity proteomics within rare diseases: a BIO‐NMD study for blood biomarkers of muscular dystrophies. Issue 7 (11th June 2014) Authors: Ayoglu, Burcu; Chaouch, Amina; Lochmüller, Hanns; Politano, Luisa; Bertini, Enrico; Spitali, Pietro; Hiller, Monika; Niks, Eric H; Gualandi, Francesca; Pontén, Fredrik; Bushby, Kate; Aartsma‐Rus, Annemieke; Schwartz, Elena; Le Priol, Yannick; Straub, Volker; Uhlén, Mathias; Cirak, Sebahattin; 't ... Journal: EMBO molecular medicine Issue: Volume 6:Issue 7(2014:Jul.) Page Start: 918 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Burden, professional support, and social network in families of children and young adults with muscular dystrophies. Issue 1 (22nd April 2015) Authors: Magliano, Lorenza; Patalano, Melania; Sagliocchi, Alessandra; Scutifero, Marianna; Zaccaro, Antonella; D'angelo, Maria Grazia; Civati, Federica; Brighina, Erika; Vita, Giuseppe; Vita, Gian Luca; Messina, Sonia; Sframeli, Maria; Pane, Marika; Lombardo, Maria Elena; Scalise, Roberta; D'amico, Adele... Journal: Muscle & nerve Issue: Volume 52:Issue 1(2015:Jul.) Page Start: 13 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Cross‐sectional serum metabolomic study of multiple forms of muscular dystrophy. Issue 4 (14th February 2018) Authors: Spitali, Pietro; Hettne, Kristina; Tsonaka, Roula; Sabir, Ekrem; Seyer, Alexandre; Hemerik, Jesse B.A.; Goeman, Jelle J.; Picillo, Esther; Ergoli, Manuela; Politano, Luisa; Aartsma‐Rus, Annemieke Journal: Journal of cellular and molecular medicine Issue: Volume 22:Issue 4(2018) Page Start: 2442 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Deletion of the Williams Beuren syndrome critical region unmasks facioscapulohumeral muscular dystrophy. (July 2020) Authors: Rodolico, Carmelo; Politano, Luisa; Portaro, Simona; Murru, Stefania; Boccone, Loredana; Sera, Francesco; Passamano, Luigia; Brizzi, Teresa; Tupler, Rossella Journal: European journal of paediatric neurology Issue: Volume 27(2020) Page Start: 25 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. 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. International retrospective natural history study of LMNA-related congenital muscular dystrophy. Issue 3 (11th April 2021) Authors: Ben Yaou, Rabah; Yun, Pomi; Dabaj, Ivana; Norato, Gina; Donkervoort, Sandra; Xiong, Hui; Nascimento, Andrés; Maggi, Lorenzo; Sarkozy, Anna; Monges, Soledad; Bertoli, Marta; Komaki, Hirofumi; Mayer, Michèle; Mercuri, Eugenio; Zanoteli, Edmar; Castiglioni, Claudia; Marini-Bettolo, Chiara; D'Amico, ... Journal: Brain communications Issue: Volume 3:Issue 3(2021) 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) ↗