PEGORARO, ELENA
PEGORARO, ELENA
Dipartimento di Neuroscienze - DNS
"Mitochondrial neuropathies": A survey from the large cohort of the Italian Network
2016 Mancuso, Michelangelo; Orsucci, Daniele; Angelini, Corrado; Bertini, Enrico; Carelli, Valerio; Comi, Giacomo Pietro; Federico, Antonio; Minetti, Carlo; Moggio, Maurizio; Mongini, Tiziana; Tonin, Paola; Toscano, Antonio; Bruno, Claudio; Ienco, Elena Caldarazzo; Filosto, Massimiliano; Lamperti, Costanza; Diodato, Daria; Moroni, Isabella; Musumeci, Olimpia; Pegoraro, Elena; Spinazzi, Marco; Ahmed, Naghia; Sciacco, Monica; Vercelli, Liliana; Ardissone, Anna; Zeviani, Massimo; Siciliano, Gabriele
169th ENMC International Workshop Rare Structural Congenital Myopathies 6-8 November 2009, Naarden, The Netherlands.
2011 Goebel, Hh; Bönnemann, Cg; Rare Structural Myopathy Consortium (Bertini, E; Bonnemann, Cg; Boersen, A; Clarke, N; Goebel, Hh; Figarella Branger, D; Hubner, A; Holton, Jl; Kirshner, J; Lammens, M; Moore, S; Nonaka, I; Olive’, M; Pegoraro, Elena; Polvikoski, T; Schessl, J; Sewry, C; Taratuto, Al
1st International Workshop on Clinical trial readiness for sarcoglycanopathies 15-16 November 2016, Evry, France
2017 Marsolier, Justine; Laforet, Pascal; Pegoraro, Elena; Vissing, John; Richard, Isabelle; Barnerias, Christine; Carlier, Robert Yves; Díaz Manera, Jordi; Fayssoil, Abdallah; Galy, Anne; Gazzerro, Elisabetta; Gorecki, DARIUSZ , CEZARY; Guglieri, Michela; Hogrel, Jean Yves; Israeli, David; Leturcq, France; Moussu, Helene; Prigent, Helene; Sandona', Dorianna; Schoser, Benedikt; Semplicini, Claudio; Talim, Beril; Tasca, Giorgio; Urtizberea, Andoni; Udd, Bjarne
2004. Double trouble for muscle and nerve: lamin A/C and PMP22 mutations in the same family.
2004 Pegoraro, Elena; Gavassini, BRUNO FRANCESCO; Zara, G; Romeo, V; Padoan, R; Benedetti, S; Ferrari, M; Zortea, M; Mostacciuolo, MARIA LUISA; Angelini, Corrado
238th ENMC International Workshop: Updating management recommendations of cardiac dystrophinopathyHoofddorp, The Netherlands, 30 November - 2 December 2018
2019 Bourke, J. P.; Guglieri, M.; Duboc, D.; Aartsma-Rus, A.; Bandali, A.; Bennett, N.; Cools, B.; Cripe, L.; de Groot, I.; Dittrich, S.; Florian, A.; Furlong, P.; Goemans, N.; Hor, K.; van Leperen, F.; Macgowan, G.; Mcnally, E.; Pegoraro, E.; Politano, L.; Sediva, M.; Stara, V.; Timmermans, J.; Vroom, E.; Wahbi, K.
24 month longitudinal data in ambulant boys with duchenne muscular dystrophy.
2013 Mazzone, Es; Pane, M; Sormani, Mp; Scalise, R; Berardinelli, A; Messina, S; Torrente, Y; D'Amico, A; Doglio, L; Viggiano, E; D'Ambrosio, P; Cavallaro, F; Frosini, S; Bello, Luca; Bonfiglio, S; De Sanctis, R; Rolle, E; Bianco, F; Magri, F; Rossi, F; Vasco, G; Vita, G; Motta, Mc; Donati, Ma; Sacchini, M; Mongini, T; Pini, A; Battini, R; Pegoraro, Elena; Previtali, S; Napolitano, S; Bruno, C; Politano, L; Comi, Gp; Bertini, E; Mercuri, E.
6 minute walk test in Duchenne MD patients with different mutations: 12 month changes.
2014 Pane, M; Mazzone, Es; Sormani, Mp; Messina, S; Vita, Gl; Fanelli, L; Berardinelli, A; Torrente, Y; D'Amico, A; Lanzillotta, V; Viggiano, E; D'Ambrosio, P; Cavallaro, F; Frosini, S; Bello, Luca; Bonfiglio, S; Scalise, R; De Sanctis, R; Rolle, E; Bianco, F; Van der Haawue, M; Magri, F; Palermo, C; Rossi, F; Donati, Ma; Alfonsi, C; Sacchini, M; Arnoldi, Mt; Baranello, G; Mongini, T; Pini, A; Battini, R; Pegoraro, Elena; Previtali, Sc; Napolitano, S; Bruno, C; Politano, L; Comi, Gp; Bertini, E; Morandi, L; Gualandi, F; Ferlini, A; Goemans, N; Mercuri, E.
A 14-Year Italian Experience in DM2 Genetic Testing: Frequency and Distribution of Normal and Premutated CNBP Alleles
2021 Botta, A.; Visconti, V. V.; Fontana, L.; Bisceglia, P.; Bengala, M.; Massa, R.; Bagni, I.; Cardani, R.; Sangiuolo, F.; Meola, G.; Antonini, G.; Petrucci, A.; Pegoraro, E.; D'Apice, M. R.; Novelli, G.
A 3d culture model of innervated human skeletal muscle enables studies of the adult neuromuscular junction
2019 Bakooshli, M. A.; Lippmann, E. S.; Mulcahy, B.; Iyer, N.; Nguyen, C. T.; Tung, K.; Stewart, B. A.; Van Den Dorpel, H.; Fuehrmann, T.; Shoichet, M.; Bigot, A.; Pegoraro, E.; Ahn, H.; Ginsberg, H.; Zhen, M.; Ashton, R. S.; Gilbert, P. M.
A 5-year clinical follow-up study from the Italian National Registry for FSHD
2021 Vercelli, L.; Mele, F.; Ruggiero, L.; Sera, F.; Tripodi, S.; Ricci, G.; Vallarola, A.; Villa, L.; Govi, M.; Maranda, L.; Di Muzio, A.; Scarlato, M.; Bucci, E.; Maggi, L.; Rodolico, C.; Moggio, M.; Filosto, M.; Antonini, G.; Previtali, S.; Angelini, C.; Berardinelli, A.; Pegoraro, E.; Siciliano, G.; Tomelleri, G.; Santoro, L.; Mongini, T.; Tupler, R.
A case of myasthenia gravis and autoimmune thyroditis after mycoplasma pneumonite infection: a role for superantigen?
2001 Ruzza, G; Bonifati, Dm; Pegoraro, Elena; Zara, G; Angelini, Corrado
A case of ‘never-experienced before’ headache in a young man.
2010 Volpe, M; Bello, Luca; Querin, G; Cima, V; Palmieri, Arianna; Soraru', Gianni; Pegoraro, Elena; Angelini, Corrado
A checklist for clinical trials in rare disease: Obstacles and anticipatory actions-lessons learned from the FOR-DMD trial
2018 Crow, Rebecca A.; Hart, Kimberly A.; Mcdermott, Michael P.; Tawil, Rabi; Martens, William B.; Herr, Barbara E.; Mccoll, Elaine; Wilkinson, Jennifer; Kirschner, Janbernd; King, Wendy M.; Eagle, Michele; Brown, Mary W.; Hirtz, Deborah; Lochmuller, Hanns; Straub, Volker; Ciafaloni, Emma; Shieh, Perry B.; Spinty, Stefan; Childs, Anne-Marie; Manzur, Adnan Y.; Morandi, Lucia; Butterfield, Russell J.; Horrocks, Iain; Roper, Helen; Flanigan, Kevin M.; Kuntz, Nancy L.; Mah, Jean K.; Morrison, Leslie; Darras, Basil T.; von der Hagen, Maja; Schara, Ulrike; Wilichowski, Ekkehard; Mongini, Tiziana; Mcdonald, Craig M.; Vita, Giuseppe; Barohn, Richard J.; Finkel, Richard S.; Wicklund, Matthew; Mcmillan, Hugh J.; Hughes, Imelda; Pegoraro, Elena; Bryan Burnette, W.; Howard, James F.; Thangarajh, Mathula; Campbell, Craig; Griggs, Robert C.; Bushby, Kate; Guglieri, Michela
A Diagnostic Dilemma in a Family with Cystinuria Type B Resolved by Muscle Magnetic Resonance
2015 Astrea, Guja; Munteanu, Iulia; Cassandrini, Denise; Lillis, Suzanne; Trovato, Rosanna; Pegoraro, Elena; Cioni, Giovanni; Mercuri, Eugenio; Muntoni, Francesco; Battini, Roberta
A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis.
2014 Fogh, I; Ratti, A; Gellera, C; Lin, K; Tiloca, C; Moskvina, V; Corrado, L; Soraru', Gianni; Cereda, C; Corti, S; Gentilini, D; Calini, D; Castellotti, B; Mazzini, L; Querin, G; Gagliardi, S; Del Bo, R; Conforti, Fl; Siciliano, G; Inghilleri, M; Saccà, F; Bongioanni, P; Penco, S; Corbo, M; Sorbi, S; Filosto, M; Ferlini, A; Di Blasio, Am; Signorini, S; Shatunov, A; Jones, A; Shaw, Pj; Morrison, Ke; Farmer, Ae; Van Damme, P; Robberecht, W; Chiò, A; Traynor, Bj; Sendtner, M; Melki, J; Meininger, V; Hardiman, O; Andersen, Pm; Leigh, Np; Glass, Jd; Overste, D; Diekstra, Fp; Veldink, Jh; van Es, Ma; Shaw, Ce; Weale, Me; Lewis, Cm; Williams, J; Brown, Rh; Landers, Je; Ticozzi, N; Ceroni, M; Pegoraro, Elena; Comi, Gp; D'Alfonso, S; van den Berg, Lh; Taroni, F; Al Chalabi, A; Powell, J; Silani, V; Slagen, Consortium; Collaborators, ; Italsgen, Consortium
A mobile app for patients with Pompe disease and its possible clinical applications
2018 Ricci, Giulia; Baldanzi, Sigrid; Seidita, Fabrizio; Proietti, Chiara; Carlini, Francesca; Peviani, Silvia; Antonini, Giovanni; Vianello, Andrea; Siciliano, Gabriele; Musumeci, O.; Toscano, A.; Ravaglia, S.; Moggio, M.; Comi, G.; Pegoraro, E.; Filosto, M.; Marrosu, G.; Maggi, L.; Liguori, R.; Massa, R.; Di Iorio, G.; Servidei, S.; Angelini, C.; Mongini, T.
A Mutation in the CASQ1 Gene Causes a Vacuolar Myopathy with Accumulation of Sarcoplasmic Reticulum Protein Aggregates.
2014 Rossi, D; Vezzani, B; Galli, L; Paolini, C; Toniolo, Luana; Pierantozzi, E; Spinozzi, S; Barone, V; Pegoraro, Elena; Bello, Luca; Cenacchi, G; Vattemi, G; Tomelleri, G; Ricci, G; Siciliano, G; Protasi, F; Reggiani, Carlo; Sorrentino, V.
A new paramyotonia congenita mutation in a novel Na+ channel region involved in inactivation
2000 Wu, F; Takahashi, M; Pegoraro, Elena; Angelini, Corrado; Colleselli, P; Cannon, S; Hoffman, E. P.
A new congenital multicore titinopathy associated with fast myosin heavy chain deficiency
2020 Perrin, A.; Metay, C.; Villanova, M.; Carlier, R. -Y.; Pegoraro, E.; Juntas Morales, R.; Stojkovic, T.; Richard, I.; Richard, P.; Romero, N. B.; Granzier, H.; Koenig, M.; Malfatti, E.; Cossee, M.
A new mutation in a family with cold-aggravated myotonia disrupts Na+ channel inactivation
2001 Wu, Ff; Takahashi, Mp; Pegoraro, Elena; Angelini, Corrado; Colleselli, P; Cannon, Sc; Hoffman, Ep