Validation of Motor Outcome Measures in Myotonic Dystrophy Type 2

le Montagnese, Federica, Rastelli, Emanuele, Khizanishvili, Nina, Massa, Roberto, Stahl, Kristina, Schoser, Benedikt
Foilsithe in Front Neurol (2020)

Association of HLA-DQB1∗05:02 and DRB1∗16 Alleles with Late-Onset, Nonthymomatous, AChR-Ab-Positive Myasthenia Gravis

le Testi, Manuela, Terracciano, Chiara, Guagnano, Annalisa, Testa, Giuseppe, Marfia, Girolama A., Pompeo, Eugenio, Andreani, Marco, Massa, Roberto
Foilsithe 2012

Hereditary spastic paraplegia: a novel mutation and expansion of the phenotype variability in SPG10

le Carosi, Laura, Lo Giudice, Temistocle, Di Lullo, Martina, Lombardi, Federica, Babalini, Carla, Gaudiello, Fabrizio, Marfia, Girolama Alessandra, Massa, Roberto, Kawarai, Toshitaka, Orlacchio, Antonio
Foilsithe in J Neurol Neurosurg Psychiatry (2015)

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

le Astrea, Guja, Petrucci, Antonio, Cassandrini, Denise, Savarese, Marco, Trovato, Rosanna, Lispi, Ludovico, Rubegni, Anna, Giacanelli, Manlio, Massa, Roberto, Nigro, Vincenzo, Santorelli, Filippo M.
Foilsithe in BMC Med Genet (2016)

Identification and characterization of 5′ CCG interruptions in complex DMPK expanded alleles

le Botta, Annalisa, Rossi, Giulia, Marcaurelio, Marzia, Fontana, Luana, D'Apice, Maria Rosaria, Brancati, Francesco, Massa, Roberto, G Monckton, Darren, Sangiuolo, Federica, Novelli, Giuseppe
Foilsithe in Eur J Hum Genet (2017)

Brain MR diffusion tensor imaging in Kennedy’s disease

le Garaci, Francesco, Toschi, Nicola, Lanzafame, Simona, Marfia, Girolama A, Marziali, Simone, Meschini, Alessandro, Di Giuliano, Francesca, Simonetti, Giovanni, Guerrisi, Maria, Massa, Roberto, Floris, Roberto
Foilsithe in Neuroradiol J (2015)

Generation and Neuronal Differentiation of hiPSCs From Patients With Myotonic Dystrophy Type 2

le Spitalieri, Paola, Talarico, Rosa V., Murdocca, Michela, Fontana, Luana, Marcaurelio, Marzia, Campione, Elena, Massa, Roberto, Meola, Giovanni, Serafino, Annalucia, Novelli, Giuseppe, Sangiuolo, Federica, Botta, Annalisa
Foilsithe in Front Physiol (2018)

SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis

le Orlacchio, Antonio, Babalini, Carla, Borreca, Antonella, Patrono, Clarice, Massa, Roberto, Basaran, Sarenur, Munhoz, Renato P., Rogaeva, Ekaterina A., St George-Hyslop, Peter H., Bernardi, Giorgio, Kawarai, Toshitaka
Foilsithe 2010

Recurrent hyperCKemia with normal muscle biopsy in a pediatric patient with neuromyelitis optica

le Di Filippo, Massimiliano, Franciotta, Diego, Massa, Roberto, Di Gregorio, Maria, Zardini, Elisabetta, Gastaldi, Matteo, Terracciano, Chiara, Rastelli, Emanuele, Gaetani, Lorenzo, Iannone, Alessia, Menduno, Paola, Floridi, Piero, Sarchielli, Paola, Calabresi, Paolo
Foilsithe 2012

Increased risk of tumor in DM1 is not related to exposure to common lifestyle risk factors.

le Bianchi, Maria Laura Ester, Leoncini, Emanuele, Masciullo, Marcella, Modoni, Anna, Gadalla, Shahinaz M., Massa, Roberto, Rastelli, Emanuele, Terracciano, Chiara, Antonini, Giovanni, Bucci, Elisabetta, Petrucci, Antonio, Costanzi, Sandro, Santoro, Massimo, Boccia, Stefania, Silvestri, Gabriella
Foilsithe in J Neurol (2016)

A 14-Year Italian Experience in DM2 Genetic Testing: Frequency and Distribution of Normal and Premutated CNBP Alleles

le Botta, Annalisa, Visconti, Virginia Veronica, Fontana, Luana, Bisceglia, Paola, Bengala, Mario, Massa, Roberto, Bagni, Ilaria, Cardani, Rosanna, Sangiuolo, Federica, Meola, Giovanni, Antonini, Giovanni, Petrucci, Antonio, Pegoraro, Elena, D’Apice, Maria Rosaria, Novelli, Giuseppe
Foilsithe in Front Genet (2021)

ALS5/SPG11/ KIAA1840 mutations cause autosomal recessive axonal Charcot–Marie–Tooth disease

le Montecchiani, Celeste, Pedace, Lucia, Lo Giudice, Temistocle, Casella, Antonella, Mearini, Marzia, Gaudiello, Fabrizio, Pedroso, José L., Terracciano, Chiara, Caltagirone, Carlo, Massa, Roberto, St George-Hyslop, Peter H., Barsottini, Orlando G. P., Kawarai, Toshitaka, Orlacchio, Antonio
Foilsithe in Brain (2016)

Muscle MRI in neutral lipid storage disease (NLSD)

le Garibaldi, Matteo, Tasca, Giorgio, Diaz-Manera, Jordi, Ottaviani, Pierfancesco, Laschena, Francesco, Pantoli, Donatella, Gerevini, Simonetta, Fiorillo, Chiara, Maggi, Lorenzo, Tasca, Elisabetta, D’Amico, Adele, Musumeci, Olimpia, Toscano, Antonio, Bruno, Claudio, Massa, Roberto, Angelini, Corrado, Bertini, Enrico, Antonini, Giovanni, Pennisi, Elena Maria
Foilsithe in J Neurol (2017)

Erratum to: Muscle MRI in neutral lipid storage disease (NLSD)

le Garibaldi, Matteo, Tasca, Giorgio, Diaz-Manera, Jordi, Ottaviani, Pierfancesco, Laschena, Francesco, Pantoli, Donatella, Gerevini, Simonetta, Fiorillo, Chiara, Maggi, Lorenzo, Tasca, Elisabetta, D’Amico, Adele, Musumeci, Olimpia, Toscano, Antonio, Bruno, Claudio, Massa, Roberto, Angelini, Corrado, Bertini, Enrico, Antonini, Giovanni, Pennisi, Elena Maria
Foilsithe in J Neurol (2017)

Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy

le Ruggieri, Alessandra, Brancati, Francesco, Zanotti, Simona, Maggi, Lorenzo, Pasanisi, Maria Barbara, Saredi, Simona, Terracciano, Chiara, Antozzi, Carlo, D′Apice, Maria Rosaria, Sangiuolo, Federica, Novelli, Giuseppe, Marshall, Christian R., Scherer, Stephen W., Morandi, Lucia, Federici, Luca, Massa, Roberto, Mora, Marina, Minassian, Berge A.
Foilsithe in Acta Neuropathol Commun (2015)

Neutral Lipid Storage Diseases: clinical/genetic features and natural history in a large cohort of Italian patients

le Pennisi, Elena Maria, Arca, Marcello, Bertini, Enrico, Bruno, Claudio, Cassandrini, Denise, D’amico, Adele, Garibaldi, Matteo, Gragnani, Francesca, Maggi, Lorenzo, Massa, Roberto, Missaglia, Sara, Morandi, Lucia, Musumeci, Olimpia, Pegoraro, Elena, Rastelli, Emanuele, Santorelli, Filippo Maria, Tasca, Elisabetta, Tavian, Daniela, Toscano, Antonio, Angelini, Corrado
Foilsithe in Orphanet J Rare Dis (2017)

ATTRv in Lazio-Italy: A High-Prevalence Region in a Non-Endemic Country

le Luigetti, Marco, Guglielmino, Valeria, Antonini, Giovanni, Casali, Carlo, Ceccanti, Marco, Chiappini, Maria Grazia, De Giglio, Laura, Di Lazzaro, Vincenzo, Di Muzio, Antonio, Goglia, Mariangela, Inghilleri, Maurizio, Leonardi, Luca, Massa, Roberto, Pennisi, Elena Maria, Petrucci, Antonio, Proietti, Emanuela, Rispoli, Marianna, Sabatelli, Mario, Di Girolamo, Marco
Foilsithe in Genes (Basel) (2021)