PEGORARO, ELENA
PEGORARO, ELENA
Dipartimento di Neuroscienze - DNS
Estimating the minimal clinically important difference of functional outcomes in spinal and bulbar muscular atrophy
2026 Zanovello, Matteo; Sabbatini, Daniele; Paredi, Federica; Romito, Alberto; Andreetta, Sara; Blasi, Lorenzo; Musso, Giulia; Poletti, Angelo; Vasta, Rosario; Basso, Manuela; Dubbioso, Raffaele; Pennuto, Maria; Minicuci, Giacomo Maria; Pegoraro, Elena; Bello, Luca; Sorarù, Gianni
Muscle transcriptomics of alpha-sarcoglycanopathy highlights inflammatory pathways driving disease
2026 Amaro, Adriana; Reggiani, Francesco; Panicucci, Chiara; Petito, Mariangela; Baratto, Serena; Pintus, Sara; Principi, Elisa; Antonini, Francesca; Del Zotto, Genny; Vellone, Valerio Gaetano; D'Amico, Adele; Lopergolo, Diego; Tonin, Paola; Malfatti, Edoardo; Mongini, Tiziana; Pegoraro, Elena; Previtali, Stefano; Rodolico, Carmelo; Tasca, Giorgio; Fiorillo, Chiara; Gazzerro, Elisabetta; Pfeffer, Ulrich; Bruno, Claudio; Raffaghello, Lizzia
Wernicke Encephalopathy Complicating a Distinctive POLG Phenotype With MNGIE-Like Features
2026 Capece, Giuliana; Caumo, Luca; Volta, Sara; Riguzzi, Pietro; Sogus, Elena; Petrosino, Angela; Vianello, Sara; Sabbatini, Daniele; Salviati, Leonardo; Manara, Renzo; Viscomi, Carlo; Sorarù, Gianni; Bello, Luca; Pegoraro, Elena
282nd ENMC international workshop - standards of diagnosis and care for the sarcoglycanopathies. 8-10 November 2024, Amsterdam, Netherlands
2025 Iammarino, M A; Alonso-Pérez, J; Stojkovic, T; Pegoraro, E; Lowes, L; Díaz-Manera, J
A peculiar case of persistent CPK elevation in a person diagnosed with acute HIV: what is behind?
2025 Calandrino, Lucrezia; Marinello, Serena; Dal Bello, Luca; Pegoraro, Elena; Ferrari, Anna; Nalesso, Federico; Cattelan, Annamaria; Mazzitelli, Maria
Analysis of the Italian cohort of late-onset Pompe disease (LOPD) patients after 10 and 15 years of therapy with alglucosidase alfa
2025 Mongini, T; Gadaleta, G; Alonge, P; Vercelli, L; Stura, I; Musumeci, O; Ravaglia, S; Ruggiero, L; Fiumara, A; Barone, R; Servidei, S; Sancricca, C; Siciliano, G; Ricci, G; Sechi, A; Tonin, P; Pegoraro, E; Filosto, M; D'Angelo, G; Comi, G; Maggi, L; Barp, A; Crescimanno, G; Toscano, A
Awareness of bone strength in patients with neuromuscular disorders: ERN EURO-NMD clinician survey and European patient survey
2025 M T A, Kruse; B A S, Olde Dubbelink; M, Kroneman; I, De Groot; S, Schlüter; M, De Visser; T, Evangelista; A, Moretti; D, Weber; L M, Ward; N C, Voermans; A D'Amico, EURO-NMD Bone Strength Study Group:; Baets, J; Baumann, M; Van Der Beek, N; De Bleecker, J; Bruijnes, A; Claeys, K; Bruno, C; Dambrauskiene, M; D'Errico, E; Filosto, M; Gosk-Tomek, M; Herdewyn, S; Kornblum, C; Kostera-Pruszczyk, A; Maggi, L; Manganelli, F; Mueller-Felber, W; Munell, F; Nadaj-Pakleza, A; Nascimento, A; Olive, M; Ørstavik, K; Palmio, J; Pegoraro, E; Peterlin, B; T Van Der Ploeg, A; Quijano-Roy, S; Remiche, G; Ricci, G; Rohlenová, M; Rosenbohm, A; Sacconi, S; Sansone, V; Santos, M; Schara-Schmidt, U; Servidei, S; Siciliano, G; Soler, D; Stojkovic, T; Vali, L; Verschuuren, J; Viktorija, K; I Wadman, R; C Walter, M; Weiss, C; Zamba-Papanicolaou, E; Zambon, A
Characterisation of a large, single-centre cohort of patients with Becker muscular dystrophy to inform standardised care guidelines
2025 Riguzzi, Pietro; Borland, Holly; James, Meredith K; Bourke, John; Bettolo, Chiara Marini; Lofra, Robert Muni; Diaz-Manera, Jordi; Tasca, Giorgio; Schiava, Marianela; Elseed, Maha; Harris, Elizabeth; Grover, Emma; Geagan, Chloe; Diaz, Carla Bolano; Haagsma, Ariele Barreto; Salman, Doaa; Reeves, Tara; Kocak, Goknur S; Robinson, Emma; Waldock, Peter; Mccallum, Michelle; Michell-Sodhi, Jassi; Moat, Dionne; Wong, Karen; Topf, Ana; Pegoraro, Elena; Bello, Luca; Straub, Volker; Guglieri, Michela
Circulating protein biomarkers identified in two independent clinical trial cohorts of glucocorticoid-naive Duchenne muscular dystrophy patients
2025 Ahmadiharchegani, Fatemeh; Tobin, Rebecca A; Degan, Chiara; Naveed, Ahmed; Guglieri, Michela; Jiménez-Requena, Albert; De Vries, Sharon I; Szigyarto, Cristina Al-Khalili; Spitali, Pietro; Tsonaka, Roula; Van Der Burgt, Yuri E M; Diaz-Manera, Jordi; Clemens, Paula R; Hoffman, Eric P; Dang, Utkarsh J; Hathout, Yetrib; Pegoraro, Elena; Bello, Luca
Deep characterization of females with heterozygous Duchenne muscular dystrophy mutations
2025 Riguzzi, Pietro; Sabbatini, Daniele; Fusto, Aurora; Vianello, Sara; Merlo, Beatrice; Zangaro, Vittoria; Capece, Giuliana; Gorgoglione, Domenico; Sorarù, Gianni; Bariani, Riccardo; Calore, Chiara; Bauce, Barbara; Martini, Marika; Mutterle, Anna; Bello, Luca; Pegoraro, Elena
Describing phenotypes in FSHD: an update of the comprehensive clinical evaluation form
2025 Giulia, Ricci; Francesca, Torri; Lucia, Ruggiero; Liliana, Vercelli; Giulio, Gadaleta; Enrica, Rolle; Barbara, Risi; Elena, Carraro; Teresinha, Evangelista; Enrico, Bugiardini; Nicolas, Dubuisson; Nicol, Voermans; Gabriele, Siciliano; Tiziana, Mongini; Massimiliano, Filosto; Clinical Network For Fshd: Isabella Allegri, Italian; Barp, Andrea; Battini, Roberta; Berardinelli, Angela; Coccia, Michela; Comi, Giacomo; Moggio, Maurizio; Sciacco, Monica; Grazia D'Angelo, Maria; Diella, Eleonora; Di Muzio, Giovanni; Fiorillo, Chiara; Gabellini, Davide; Garibaldi, Matteo; Antonini, Giovanni; Giardina, Emiliano; Strafella, Claudia; Colantoni, Luca; Grandis, Marina; Inghilleri, Maurizio; Liguori, Rocco; Lucia Valentino, Maria; Maggi, Lorenzo; Moroni, Isabella; Massa, Roberto; Mata', Sabrina; Nigro, Vincenzo; Pegoraro, Elena; Angelini, Corrado; Petrucci, Antonio; Politano, Luisa; Previtali, Stefano; Renieri, Alessandra; Ricci, Enzo; Monforte, Mauro; Rodolico, Carmelo; Sancricca, Cristina; Ada Sansone, Valeria; Santoro, Lucio; Trabacca, Antonio; Turri, Mara; Tupler, Rossella; Vattemi, Gaetano; Tonin, Paola; Verriello, Lorenzo
Evaluation of aggrephagy markers in myofibrillar myopathies
2025 Iannibelli, Eliana; Ruggieri, Alessandra; Maruotti, Antonello; Salerno, Franco; Cheli, Marta; Carnazzi, Alessandra; Nicolini De Gaetano, Lucia; Riolo, Giorgia; Bortolani, Sara; Riguzzi, Pietro; Vianello, Sara; Merlonghi, Gioia; Bello, Luca; Garibaldi, Matteo; Filosto, Massimiliano; Previtali, Stefano Carlo; Tasca, Giorgio; Vattemi, Gaetano; Tonin, Paola; Pegoraro, Elena; Gibertini, Sara; Maggi, Lorenzo
Genome-wide association for sarcoidosis identifies novel risk loci and genetic heritability in African and European ancestries: a meta-analysis from the Finngen, Million Veteran Program, UK Biobank, and Biobank Japan datasets
2025 Ricci, Andrea; Andolfi, Federica; Sabbatini, Daniele; Gozzi, Filippo; Betto, Giada Di; Ventura, Paolo; Buzzetti, Elena; Pietrangelo, Antonello; Clini, Enrico; Tonelli, Roberto; Andrisani, Dario; De Guzman Marinduque, Brent Julius; Bergamini, Elisa; Vecchi, Chiara; Pegoraro, Elena; Gregori, Dario; Corradini, Elena; Cerri, Stefania
Height, weight, and body mass index trajectories and their correlation with functional outcome assessments in boys with Duchenne muscular dystrophy
2025 Marianela, Schiava; Utkarsh J, Dang; Claire, Wood; Sze Choong, Wong; Leanne M, Ward; Robert Muni, Lofra; Anna, Mayhew; William B, Martens; Stephanie, Gregory; Robert C, Griggs; Michela, Guglieri; Muscle Study Group: Adnan Manzur, For‐dmd; Rachel, Amos; Gangfuss, Andrea; Marie Childs, Anne; Kumar, Ashutosh; E Herr, Barbara; T Darras, Basil; Speed, Chris; Campbell, Craig; M Mcdonald, Craig; Wilichowski, Ekkehard; Mccoll, Elaine; Pegoraro, Elena; Ciafaloni, Emma; K Henricson, Erik; Ricci, Federica; Luca Vita, Gian; Baranello, Giovanni; Vita, Giuseppe; Roper, Helen; J Mcmillan, Hugh; A Horrocks, Iain; Hughes, Imelda; F Howard, James; Kirschner, Janbernd; J Han, Jay; K Mah, Jean; M Statland, Jeffrey; Wilkinson, Jennifer; Bushby, Kate; O'Reardon, Kathleen; M Flanigan, Kevin; A Hart, Kimberly; Morrison, Leslie; Maggi, Lorenzo; Bello, Luca; Von Der Hagen, Maja; W Brown, Mary; Thangarajh, Mathula; Wicklund, Matthew; P Mcdermott, Michael; Eagle, Michelle; Krzesniak-Swinarska, Monika; L Kuntz, Nancy; Joyce, Nanette; B Shieh, Perry; B Kang, Peter; Tawil, Rabi; J Barohn, Richard; S Finkel, Richard; J Butterfield, Russell; Spinty, Stefan; Chang, Taeun; E Mongini, Tiziana; Willis, Tracey; Schara-Schmidt, Ulrike; Straub, Volker; Bryan Burnette, W; M King, Wendy; Alhaswani, Zoya
High-Density Lipoprotein-Associated Cholesterol Abnormalities in a Clinical Outcomes Study of Dysferlin-Deficient Limb-Girdle Muscular Dystrophy Type R2
2025 White, Zoe; Rufibach, Laura; Dressman, Heather Gordish; Hilsden, Heather; Cox, Dan; Spuler, Simone; Day, John W; Jones, Kristi J; Bharucha-Goebel, Diana X; Salort-Campana, Emmanuelle; Pestronk, Alan; Walter, Maggie C; Paradas, Carmen; Stojkovic, Tanya; Mori-Yoshimura, Madoka; Bravver, Elena; Diaz-Manera, Jordi; Pegoraro, Elena; Mendell, Jerry R; Straub, Volker; Bernatchez, Pascal
Landscape Analysis of COL6A1, COL6A2, and COL6A3 Pathogenic Variants in a Large Italian Cohort Presenting with Collagen VI-Related Myopathies: A Nationwide Report
2025 Fortunato, Fernanda; Fiocco, Laura; Margutti, Alice; Neri, Marcella; D'Amico, Adele; Bertini, Enrico; Ricci, Enzo; Mercuri, Eugenio Maria; Pane, Marika; Massa, Roberto; Greco, Giulia; Berardinelli, Angela Lucia; Cereda, Cristina; Pini, Antonella; Merlini, Luciano; Fusco, Carlo; Rodolico, Carmelo; Messina, Sonia; Fiorillo, Chiara; Bruno, Claudio; Pedemonte, Marina; Traverso, Monica; Moroni, Isabella; Maggi, Lorenzo; Gibertini, Sara; Pegoraro, Elena; Picillo, Esther; Politano, Luisa; Scutifero, Marianna; Vercellino, Fabiana; Massaro, Francesca; Filosto, Massimiliano; Gasparini, Paolo; Ricci, Federica; Mongini, Tiziana Enrica; Selvatici, Rita; Ferlini, Alessandra; Gualandi, Francesca
Longitudinal Changes of Motor Function in Becker Muscular Dystrophy
2025 Bello, Luca; Riguzzi, Pietro; Capece, Giuliana; Penzo, Martina; Petrosino, Angela; Sogus, Elena; Mastellaro, Sara; Caroli, Michela; Villa, Matteo; Sabbatini, Daniele; Gorgoglione, Domenico; Vianello, Sara; Sorarù, Gianni; Pegoraro, Elena
MEPs and MRI Motor Band Sign as Potential Complementary Markers of Upper Motor Neuron Involvement in Amyotrophic Lateral Sclerosis
2025 Calvi, F.; Fortuna, A.; Bello, L.; Anglani, M.; Cecchin, D.; Sabbatini, D.; Andrigo, C.; Ferullo, M.; Ruggero, S.; Falda, M.; Pegoraro, E.; Sorarù, G.
Modeling of Dysferlinopathy (LGMDR2) Progression: A Longitudinal Fat Fraction Analysis
2025 Bolano-Diaz, Carla Florencia; Reyngoudt, Harmen; Wilson, Ian J; James, Meredith K; Smith, Fiona Elizabeth; Caldas De Almeida Araujo, Ericky; Gordish-Dressman, Heather; Hilsden, Heather; Rufibach, Laura E; Wallace, Dorothy; Ward, Louise; Stramare, Roberto; Rampado, Alessandro; Smith, Mark; Boisserie, Jean-Marc; Le Louer, Julien; Foster, Sheryl; Peduto, Anthony; Sato, Noriko; Tamaru, Takeshi; Sawyer, Anne Marie; Day, John W; Jones, Kristi J; Walter, Maggie Christine; Stojkovic, Tanya; Mori-Yoshimura, Madoka; Mendell, Jerry R; Pegoraro, Elena; Straub, Volker; Blamire, Andrew M; Carlier, Pierre; Diaz-Manera, Jordi
Molecular and Cellular Characterization of a Novel GJB1 Gene Mutation Associated With the X-Linked Form of Charcot-Marie-Tooth Disease.
2025 Bayraktar, Erva; Balada, Rafael; Wu, Jonathan; Buratto, Damiano; Mammano, Fabio; Pegoraro, Elena; Korkhov, Volodymyr; Bortolozzi, Mario