Counseling and prenatal diagnosis in facioscapulohumeral muscular dystrophy: A retrospective study on a 13‐year multidisciplinary approach

por Di Feo, Maria Francesca, Bettio, Cinzia, Salsi, Valentina, Bertucci, Emma, Tupler, Rossella
Publicado 2022

The Italian National Registry for FSHD: an enhanced data integration and an analytics framework towards Smart Health Care and Precision Medicine for a rare disease

por Bettio, Cinzia, Salsi, Valentina, Orsini, Mirko, Calanchi, Enrico, Magnotta, Luca, Gagliardelli, Luca, Kinoshita, June, Bergamaschi, Sonia, Tupler, Rossella
Publicado 2021

Increased resistance towards fatigability in patients with facioscapulohumeral muscular dystrophy

por Beretta-Piccoli, Matteo, Calanni, Luca, Negro, Massimo, Ricci, Giulia, Bettio, Cinzia, Barbero, Marco, Berardinelli, Angela, Siciliano, Gabriele, Tupler, Rossella, Soldini, Emiliano, Cescon, Corrado, D’Antona, Giuseppe
Publicado 2021

Large genotype–phenotype study in carriers of D4Z4 borderline alleles provides guidance for facioscapulohumeral muscular dystrophy diagnosis

por Ricci, Giulia, Mele, Fabiano, Govi, Monica, Ruggiero, Lucia, Sera, Francesco, Vercelli, Liliana, Bettio, Cinzia, Santoro, Lucio, Mongini, Tiziana, Villa, Luisa, Moggio, Maurizio, Filosto, Massimiliano, Scarlato, Marina, Previtali, Stefano C., Tripodi, Silvia Maria, Pegoraro, Elena, Telese, Roberta, Di Muzio, Antonio, Rodolico, Carmelo, Bucci, Elisabetta, Antonini, Giovanni, D’Angelo, Maria Grazia, Berardinelli, Angela, Maggi, Lorenzo, Piras, Rachele, Maioli, Maria Antonietta, Siciliano, Gabriele, Tomelleri, Giuliano, Angelini, Corrado, Tupler, Rossella
Publicado 2020