Mutated sigma-1R disrupts cell homeostasis in dHMN patient cells.

Authors: Zanin, Sofia, Ciscato, Francesco, Petrucci, Antonio, Botta, Annalisa, Chiossi, Federico, Vazza, Giovanni, Rizzuto, Rosario, Pallafacchina, Giorgia

Source: Cellular & Molecular Life Sciences; 4/9/2025, Vol. 82 Issue 1, p1-20, 20p

Circulating MicroRNAs as Biomarkers of Osteoporosis and Fragility Fractures

Authors: Ciuffi, Simone, Marini, Francesca, Fossi, Caterina, Donati, Simone, Giusti, Francesca, Botta, Annalisa, Masi, Laura, Isaia, Giancarlo, Marcocci, Claudio, Migliaccio, Silvia, Minisola, Salvatore, Nuti, Ranuccio, Tarantino, Umberto, Iantomasi, Teresa, Brandi, Maria Luisa

Source: Journal of clinical endocrinology & metabolism. 107(8):2267-2285

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100164794022.0x000001&indx=1&recIds=ETOCvdc_100164794022.0x000001

Evaluation of mexiletine effect on conduction delay and bradyarrhythmic complications in patients with myotonic dystrophy type 1 over long-term follow-up

Authors: Vio, Riccardo, Zorzi, Alessandro, Bello, Luca, Bozzoni, Virginia, Botta, Annalisa, Rivezzi, Francesco, Leoni, Loira, Migliore, Federico, Bertaglia, Emanuele, Iliceto, Sabino, Pegoraro, Elena, Corrado, Domenico, Calore, Chiara

Source: In Heart Rhythm November 2020 17(11):1944-1950

Recognition of emotions conveyed by facial expression and body postures in myotonic dystrophy (DM)

Authors: Lenzoni, Sabrina, Bozzoni, Virginia, Burgio, Francesca, de Gelder, Beatrice, Wennberg, Alexandra, Botta, Annalisa, Pegoraro, Elena, Semenza, Carlo

Source: In Cortex June 2020 127:58-66

Carrier frequency of CFTR variants in the non‐Caucasian populations by genome aggregation database (gnomAD)‐based analysis

Authors: Nappo, Stefania, Mannucci, Liliana, Novelli, Giuseppe, Sangiuolo, Federica, D'Apice, Maria Rosaria, Botta, Annalisa

Source: Annals of human genetics. 84(6):463-468

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100108033590.0x000001&indx=1&recIds=ETOCvdc_100108033590.0x000001

Genetic variability in noncoding RNAs: involvement of miRNAs and long noncoding RNAs in osteoporosis pathogenesis

Authors: Fittipaldi, Simona, Visconti, Virginia Veronica, Tarantino, Umberto, Novelli, Giuseppe, Botta, Annalisa

Source: Epigenomics. 12(22):2035-2049

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100187239981.0x000001&indx=1&recIds=ETOCvdc_100187239981.0x000001

Prevalence and predictor factors of respiratory impairment in a large cohort of patients with Myotonic Dystrophy type 1 (DM1): A retrospective, cross sectional study

Authors: Rossi, Salvatore, Della Marca, Giacomo, Ricci, Martina, Perna, Alessia, Nicoletti, Tommaso F., Brunetti, Valerio, Meleo, Emiliana, Calvello, Mariarosaria, Petrucci, Antonio, Antonini, Giovanni, Bucci, Elisabetta, Licchelli, Loretta, Sancricca, Cristina, Massa, Roberto, Rastelli, Emanuele, Botta, Annalisa, Di Muzio, Antonio, Romano, Sonia, Garibaldi, Matteo, Silvestri, Gabriella

Source: In Journal of the Neurological Sciences 15 April 2019 399:118-124

Cellular Senescence: The Driving Force of Musculoskeletal Diseases.

Authors: Falvino, Angela, Gasperini, Beatrice, Cariati, Ida, Bonanni, Roberto, Chiavoghilefu, Angela, Gasbarra, Elena, Botta, Annalisa, Tancredi, Virginia, Tarantino, Umberto

Source: Biomedicines; Sep2024, Vol. 12 Issue 9, p1948, 17p

Subject Terms: MUSCULOSKELETAL system diseases, CELLULAR aging, OLDER people, AGE, DNA damage

Validation of the Nine Hole Peg Test as a measure of dexterity in myotonic dystrophy type 1

Authors: Cutellè, Claudia, Rastelli, Emanuele, Gibellini, Manuela, Greco, Giulia, Frezza, Erica, Botta, Annalisa, Terracciano, Chiara, Massa, Roberto

Source: In Neuromuscular Disorders November 2018 28(11):947-951

Modelling the pathogenesis of Myotonic Dystrophy type 1 cardiac phenotype through human iPSC-derived cardiomyocytes

Authors: Spitalieri, Paola, Talarico, Rosa V., Caioli, Silvia, Murdocca, Michela, Serafino, Annalucia, Girasole, Marco, Dinarelli, Simone, Longo, Giovanni, Pucci, Sabina, Botta, Annalisa, Novelli, Giuseppe, Zona, Cristina, Mango, Ruggiero, Sangiuolo, Federica

Source: In Journal of Molecular and Cellular Cardiology May 2018 118:95-109

Expanded [CCTG]n repetitions are not associated with abnormal methylation at the CNBP locus in myotonic dystrophy type 2 (DM2) patients

Authors: Santoro, Massimo, Fontana, Luana, Maiorca, Francesca, Centofanti, Federica, Massa, Roberto, Silvestri, Gabriella, Novelli, Giuseppe, Botta, Annalisa

Source: In BBA - Molecular Basis of Disease March 2018 1864(3):917-924

Targeted Next Generation Sequencing in patients with Myotonia Congenita

Authors: Ferradini, Valentina, Cassone, Marco, Nuovo, Sara, Bagni, Ilaria, D'Apice, Maria Rosaria, Botta, Annalisa, Novelli, Giuseppe, Sangiuolo, Federica

Source: In Clinica Chimica Acta July 2017 470:1-7

Cutaneous features of myotonic dystrophy types 1 and 2: Implication of premature aging and vitamin D homeostasis

Authors: Campione, Elena, Botta, Annalisa, Di Prete, Monia, Rastelli, Emanuele, Gibellini, Manuela, Petrucci, Antonio, Bernardini, Sergio, Novelli, Giuseppe, Bianchi, Luca, Orlandi, Augusto, Massa, Roberto, Terracciano, Chiara ^*

Source: In Neuromuscular Disorders February 2017 27(2):163-169

A 34-year longitudinal study on long-term cardiac outcomes in DM1 patients with normal ECG at baseline at an Italian clinical centre

Authors: Bucci, Elisabetta, Testa, Marco, Licchelli, Loretta, Frattari, Alessandra, El Halabieh, Nadia Attalla, Gabriele, Erica, Pignatelli, Giulia, De Santis, Tiziana, Fionda, Laura, Vanoli, Fiammetta, Morino, Stefania, Garibaldi, Matteo, Di Pasquale, Antonella, Vanacore, Nicola, Botta, Annalisa, Antonini, Giovanni

Source: Journal of neurology. 265(4):885-895

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100141537965.0x000001&indx=1&recIds=ETOCvdc_100141537965.0x000001

SCN4A as modifier gene in patients with myotonic dystrophy type 2

Authors: Binda, Anna, Renna, Laura, Bosè, Francesca, Brigonzi, Elisa, Botta, Annalisa, Valaperta, Rea, Fossati, Barbara, Rivolta, Ilaria, Meola, Giovanni, Cardani, Rosanna

Source: Scientific reports. 8(1):1-10

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100174142219.0x000001&indx=1&recIds=ETOCvdc_100174142219.0x000001

Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency

Authors: Olsen, Rikke K.J., Koňaříková, Eliška, Giancaspero, Teresa A., Mosegaard, Signe, Boczonadi, Veronika, Mataković, Lavinija, Veauville-Merllié, Alice, Terrile, Caterina, Schwarzmayr, Thomas, Haack, Tobias B., Auranen, Mari, Leone, Piero, Galluccio, Michele, Imbard, Apolline, Gutierrez-Rios, Purificacion, Palmfeldt, Johan, Graf, Elisabeth, Vianey-Saban, Christine, Oppenheim, Marcus, Schiff, Manuel, Pichard, Samia, Rigal, Odile, Pyle, Angela, Chinnery, Patrick F., Konstantopoulou, Vassiliki, Möslinger, Dorothea, Feichtinger, René G., Talim, Beril, Topaloglu, Haluk, Coskun, Turgay, Gucer, Safak, Botta, Annalisa, Pegoraro, Elena, Malena, Adriana, Vergani, Lodovica, Mazzà, Daniela, Zollino, Marcella, Ghezzi, Daniele, Acquaviva, Cecile, Tyni, Tiina, Boneh, Avihu, Meitinger, Thomas, Strom, Tim M., Gregersen, Niels, Mayr, Johannes A., Horvath, Rita, Barile, Maria, Prokisch, Holger

Source: In The American Journal of Human Genetics 2 June 2016 98(6):1130-1145

Reliable and versatile immortal muscle cell models from healthy and myotonic dystrophy type 1 primary human myoblasts

Authors: Pantic, Boris, Borgia, Doriana, Giunco, Silvia, Malena, Adriana, Kiyono, Tohru, Salvatori, Sergio, De Rossi, Anita, Giardina, Emiliano, Sangiuolo, Federica, Pegoraro, Elena, Vergani, Lodovica, Botta, Annalisa

Source: In Experimental Cell Research 1 March 2016 342(1):39-51

Expansion size and presence of CCG/CTC/CGG sequence interruptions in the expanded CTG array are independently associated to hypermethylation at the DMPK locus in myotonic dystrophy type 1 (DM1)

Authors: Santoro, Massimo, Fontana, Luana, Masciullo, Marcella, Bianchi, Maria Laura Ester, Rossi, Salvatore, Leoncini, Emanuele, Novelli, Giuseppe, Botta, Annalisa, Silvestri, Gabriella

Source: In BBA - Molecular Basis of Disease December 2015 1852(12):2645-2652

Progression of muscle histopathology but not of spliceopathy in myotonic dystrophy type 2

Authors: Cardani, Rosanna, Giagnacovo, Marzia, Rossi, Giulia, Renna, Laura V., Bugiardini, Enrico, Pizzamiglio, Chiara, Botta, Annalisa, Meola, Giovanni

Source: In Neuromuscular Disorders December 2014 24(12):1042-1053

An Age-Standardized Prevalence Estimate and a Sex and Age Distribution of Myotonic Dystrophy Types 1 and 2 in the Rome Province, Italy

Authors: Vanacore, Nicola, Rastelli, Emanuele, Antonini, Giovanni, Bianchi, Maria Laura Ester, Botta, Annalisa, Bucci, Elisabetta, Casali, Carlo, Costanzi-Porrini, Sandro, Giacanelli, Manlio, Gibellini, Manuela, Modoni, Anna, Novelli, Giuseppe, Pennisi, Elena Maria, Petrucci, Antonio, Piantadosi, Carlo, Silvestri, Gabriella, Terracciano, Chiara, Massa, Roberto

Source: Neuroepidemiology. 46(3):191-197

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100084713905.0x000001&indx=1&recIds=ETOCvdc_100084713905.0x000001