Validation of Motor Outcome Measures in Myotonic Dystrophy Type 2

Autor Montagnese, Federica, Rastelli, Emanuele, Khizanishvili, Nina, Massa, Roberto, Stahl, Kristina, Schoser, Benedikt
Vydáno v Front Neurol (2020)

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

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

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

Autor Carosi, Laura, Lo Giudice, Temistocle, Di Lullo, Martina, Lombardi, Federica, Babalini, Carla, Gaudiello, Fabrizio, Marfia, Girolama Alessandra, Massa, Roberto, Kawarai, Toshitaka, Orlacchio, Antonio
Vydáno v 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

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

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

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

Brain MR diffusion tensor imaging in Kennedy’s disease

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

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

Autor 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
Vydáno v Front Physiol (2018)

SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis

Autor 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
Vydáno 2010

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

Autor 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
Vydáno 2012

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

Autor 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
Vydáno v J Neurol (2016)

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

Autor 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
Vydáno v Front Genet (2021)

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

Autor 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
Vydáno v Brain (2016)

Muscle MRI in neutral lipid storage disease (NLSD)

Autor 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
Vydáno v J Neurol (2017)

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

Autor 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
Vydáno v J Neurol (2017)

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

Autor 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.
Vydáno v Acta Neuropathol Commun (2015)

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

Autor 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
Vydáno v Orphanet J Rare Dis (2017)

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

Autor 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
Vydáno v Genes (Basel) (2021)