1. A Mutation in the CASQ1 Gene Causes a Vacuolar Myopathy with Accumulation of Sarcoplasmic Reticulum Protein Aggregates. Issue 10 (10th September 2014) Authors: Rossi, Daniela; Vezzani, Bianca; Galli, Lucia; Paolini, Cecilia; Toniolo, Luana; Pierantozzi, Enrico; Spinozzi, Simone; Barone, Virginia; Pegoraro, Elena; Bello, Luca; Cenacchi, Giovanna; Vattemi, Gaetano; Tomelleri, Giuliano; Ricci, Giulia; Siciliano, Gabriele; Protasi, Feliciano; Reggiani, Carl... Journal: Human mutation Issue: Volume 35:Issue 10(2014:Oct.) Page Start: 1163 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. 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) ↗
3. Assessing Dysferlinopathy Patients Over Three Years With a New Motor Scale. Issue 5 (26th February 2021) Authors: Jacobs, Marni B.; James, Meredith K.; Lowes, Linda P.; Alfano, Lindsay N.; Eagle, Michelle; Muni Lofra, Robert; Moore, Ursula; Feng, Jia; Rufibach, Laura E.; Rose, Kristy; Duong, Tina; Bello, Luca; Pedrosa‐Hernández, Irene; Holsten, Scott; Sakamoto, Chikako; Canal, Aurélie; Sanchez‐Aguilera Práxe... Journal: Annals of neurology Issue: Volume 89:Issue 5(2021) Page Start: 967 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Assessment of disease progression in dysferlinopathy: A 1-year cohort study. (29th January 2019) Authors: Moore, Ursula; Jacobs, Marni; James, Meredith K.; Mayhew, Anna G.; Fernandez-Torron, Roberto; Feng, Jia; Cnaan, Avital; Eagle, Michelle; Bettinson, Karen; Rufibach, Laura E.; Lofra, Robert Muni; Blamire, Andrew M.; Carlier, Pierre G.; Mittal, Plavi; Lowes, Linda Pax; Alfano, Lindsay; Rose, Kristy... Journal: Neurology Issue: Volume 92:Number 5(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. 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) ↗
6. Cardiorespiratory management of Duchenne muscular dystrophy: emerging therapies, neuromuscular genetics, and new clinical challenges. Issue 4 (April 2022) Authors: Birnkrant, David J; Bello, Luca; Butterfield, Russell J; Carter, John C; Cripe, Linda H; Cripe, Timothy P; McKim, Douglas A; Nandi, Deipanjan; Pegoraro, Elena Journal: Lancet Issue: Volume 10:Issue 4(2022) Page Start: 403 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. DMD genotypes and loss of ambulation in the CINRG Duchenne Natural History Study. (26th July 2016) Authors: Bello, Luca; Morgenroth, Lauren P.; Gordish-Dressman, Heather; Hoffman, Eric P.; McDonald, Craig M.; Cirak, Sebahattin Journal: Neurology Issue: Volume 87:Number 4(2016) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Evaluation of peripherin in biofluids of patients with motor neuron diseases. Issue 8 (15th July 2021) Authors: Sabbatini, Daniele; Raggi, Flavia; Ruggero, Susanna; Seguso, Mara; Mandrioli, Jessica; Cagnin, Annachiara; Briani, Chiara; Toffanin, Elisabetta; Gizzi, Matteo; Fortuna, Andrea; Bello, Luca; Pegoraro, Elena; Musso, Giulia; Sorarù, Gianni Journal: Annals of clinical and translational neurology Issue: Volume 8:Issue 8(2021) Page Start: 1750 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Genetic modifiers of ambulation in the cooperative international Neuromuscular research group Duchenne natural history study. Issue 4 (13th March 2015) Authors: Bello, Luca; Kesari, Akanchha; Gordish‐Dressman, Heather; Cnaan, Avital; Morgenroth, Lauren P.; Punetha, Jaya; Duong, Tina; Henricson, Erik K.; Pegoraro, Elena; McDonald, Craig M.; Hoffman, Eric P. Journal: Annals of neurology Issue: Volume 77:Issue 4(2015:Apr.) Page Start: 684 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. 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) ↗