1. 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) ↗
2. 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) ↗
3. 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) ↗
4. Facioscapulohumeral muscular dystrophy: new insights from compound heterozygotes and implication for prenatal genetic counselling. Issue 3 (3rd January 2012) Authors: Scionti, Isabella; Fabbri, Greta; Fiorillo, Chiara; Ricci, Giulia; Greco, Francesca; D'Amico, Roberto; Termanini, Alberto; Vercelli, Liliana; Tomelleri, Giuliano; Cao, Michelangelo; Santoro, Lucio; Percesepe, Antonio; Tupler, Rossella Journal: Journal of medical genetics Issue: Volume 49:Issue 3(2012) Page Start: 171 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. 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) ↗
6. 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) ↗
7. Myoclonus in mitochondrial disorders. Issue 6 (7th February 2014) Authors: Mancuso, Michelangelo; Orsucci, Daniele; Angelini, Corrado; Bertini, Enrico; Catteruccia, Michela; Pegoraro, Elena; Carelli, Valerio; Valentino, Maria L.; Comi, Giacomo P.; Minetti, Carlo; Bruno, Claudio; Moggio, Maurizio; Ienco, Elena Caldarazzo; Mongini, Tiziana; Vercelli, Liliana; Primiano, Gu... Journal: Movement disorders Issue: Volume 29:Issue 6(2014) Page Start: 722 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. New pharmacotherapies for genetic neuromuscular disorders: opportunities and challenges. Issue 8 (3rd August 2019) Authors: Ricci, Federica; Vacchetti, Martina; Brusa, Chiara; Vercelli, Liliana; Davico, Chiara; Vitiello, Benedetto; Mongini, Tiziana Journal: Expert review of clinical pharmacology Issue: Volume 12:Issue 8(2019) Page Start: 757 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. The analysis of myotonia congenita mutations discloses functional clusters of amino acids within the CBS2 domain and the C‐terminal peptide of the ClC‐1 channel. Issue 9 (4th July 2018) Authors: Altamura, Concetta; Lucchiari, Sabrina; Sahbani, Dalila; Ulzi, Gianna; Comi, Giacomo P.; D'Ambrosio, Paola; Petillo, Roberta; Politano, Luisa; Vercelli, Liliana; Mongini, Tiziana; Dotti, Maria Teresa; Cardani, Rosanna; Meola, Giovanni; Lo Monaco, Mauro; Matthews, Emma; Hanna, Michael G.; Carratù,... Journal: Human mutation Issue: Volume 39:Issue 9(2018) Page Start: 1273 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients. (5th July 2016) Authors: Savarese, Marco; Di Fruscio, Giuseppina; Torella, Annalaura; Fiorillo, Chiara; Magri, Francesca; Fanin, Marina; Ruggiero, Lucia; Ricci, Giulia; Astrea, Guja; Passamano, Luigia; Ruggieri, Alessandra; Ronchi, Dario; Tasca, Giorgio; D'Amico, Adele; Janssens, Sandra; Farina, Olimpia; Mutarelli, Margh... Journal: Neurology Issue: Volume 87:Number 1(2016) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗