1. 12‐Month progression of motor and functional outcomes in congenital myotonic dystrophy. Issue 3 (10th January 2021) Authors: Quigg, Kellen H.; Berggren, Kiera N.; McIntyre, Melissa; Bates, Kameron; Salmin, Francesca; Casiraghi, Jacopo L.; DʼAmico, Adele; Astrea, Guja; Ricci, Federica; McKay, Marnee J.; Baldwin, Jennifer N.; Burns, Joshua; Campbell, Craig; Sansone, Valeria A.; Johnson, Nicholas E. Journal: Muscle & nerve Issue: Volume 63:Issue 3(2021) Page Start: 384 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. 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) ↗
3. CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56. Issue 1 (11th November 2017) Authors: Durand, Christelle M.; Dhers, Laura; Tesson, Christelle; Tessa, Alessandra; Fouillen, Laetitia; Jacqueré, Stéphanie; Raymond, Laure; Coupry, Isabelle; Benard, Giovanni; Darios, Frédéric; El‐ Hachimi, Khalid H.; Astrea, Guja; Rivier, François; Banneau, Guillaume; Pujol, Claire; Lacombe, Didier; Du... Journal: Human mutation Issue: Volume 39:Issue 1(2018) Page Start: 140 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Elevated Serum Creatine Kinase and Small Cerebellum Prompt Diagnosis of Congenital Muscular Dystrophy due to FKRP Mutations. (March 2014) Authors: Trovato, Rosanna; Astrea, Guja; Bartalena, Laura; Ghirri, Paolo; Baldacci, Jacopo; Giampietri, Matteo; Battini, Roberta; Santorelli, Filippo M.; Fiorillo, Chiara Journal: Journal of child neurology Issue: Volume 29:Number 3(2014:Mar.) Page Start: 394 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Epilepsy Course and Developmental Trajectories in STXBP1-DEE. (31st May 2022) Authors: Balagura, Ganna; Xian, Julie; Riva, Antonella; Marchese, Francesca; Ben Zeev, Bruria; Rios, Loreto; Sirsi, Deepa; Accorsi, Patrizia; Amadori, Elisabetta; Astrea, Guja; Baldassari, Simona; Beccaria, Francesca; Boni, Antonella; Budetta, Mauro; Cantalupo, Gaetano; Capovilla, Giuseppe; Cesaroni, Elis... Journal: Neurology Issue: Volume 8:Number 3(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Epilepsy Course and Developmental Trajectories in STXBP1-DEE. (31st May 2022) Authors: Balagura, Ganna; Xian, Julie; Riva, Antonella; Marchese, Francesca; Ben Zeev, Bruria; Rios, Loreto; Sirsi, Deepa; Accorsi, Patrizia; Amadori, Elisabetta; Astrea, Guja; Baldassari, Simona; Beccaria, Francesca; Boni, Antonella; Budetta, Mauro; Cantalupo, Gaetano; Capovilla, Giuseppe; Cesaroni, Elis... Journal: Neurology Issue: Volume 8:Number 3(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. 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) ↗
8. Myoimaging in the NGS era: the discovery of a novel mutation in MYH7 in a family with distal myopathy and core-like features – a case report. Issue 1 (December 2016) Authors: Astrea, Guja; Petrucci, Antonio; Cassandrini, Denise; Savarese, Marco; Trovato, Rosanna; Lispi, Ludovico; Rubegni, Anna; Giacanelli, Manlio; Massa, Roberto; Nigro, Vincenzo; Santorelli, Filippo Journal: BMC medical genetics Issue: Volume 17:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Novel Dynein DYNC1H1 Neck and Motor Domain Mutations Link Distal Spinal Muscular Atrophy and Abnormal Cortical Development. Issue 3 (3rd January 2014) Authors: Fiorillo, Chiara; Moro, Francesca; Yi, Julie; Weil, Sarah; Brisca, Giacomo; Astrea, Guja; Severino, Mariasavina; Romano, Alessandro; Battini, Roberta; Rossi, Andrea; Minetti, Carlo; Bruno, Claudio; Santorelli, Filippo M.; Vallee, Richard Journal: Human mutation Issue: Volume 35:Issue 3(2014:Mar.) Page Start: 298 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Prevalence of congenital muscular dystrophy in Italy: A population study. (3rd March 2015) Authors: Graziano, Alessandra; Bianco, Flaviana; D'Amico, Adele; Moroni, Isabella; Messina, Sonia; Bruno, Claudio; Pegoraro, Elena; Mora, Marina; Astrea, Guja; Magri, Francesca; Comi, Giacomo P.; Berardinelli, Angela; Moggio, Maurizio; Morandi, Lucia; Pini, Antonella; Petillo, Roberta; Tasca, Giorgio; Mon... Journal: Neurology Issue: Volume 84:Number 9(2015) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗