Search Results - "Elena Pegoraro"

The "Usual Suspects": Genes for Inflammation, Fibrosis, Regeneration, and Muscle Strength Modify Duchenne Muscular Dystrophy by Bello, Luca, Pegoraro, Elena

“…Duchenne muscular dystrophy (DMD), the most severe form of dystrophinopathy, is quite homogeneous with regards to its causative biochemical defect, i.e.,…”
Get full text

Muscle magnetic resonance characterization of STIM1 tubular aggregate myopathy using unsupervised learning by Lupi, Amalia, Spolaor, Simone, Favero, Alessandro, Bello, Luca, Stramare, Roberto, Pegoraro, Elena, Nobile, Marco Salvatore

“…Congenital myopathies are a heterogeneous group of diseases affecting the skeletal muscles and characterized by high clinical, genetic, and histological…”
Get full text

Mutation in BAG3 causes severe dominant childhood muscular dystrophy by Selcen, Duygu, Muntoni, Francesco, Burton, Barbara K., Pegoraro, Elena, Sewry, Caroline, Bite, Anna V., Engel, Andrew G.

“…Objective Myofibrillar myopathies (MFMs) are morphologically distinct but genetically heterogeneous muscular dystrophies in which disintegration of Z disks and…”
Get full text

A 3D culture model of innervated human skeletal muscle enables studies of the adult neuromuscular junction by Afshar Bakooshli, Mohsen, Lippmann, Ethan S, Mulcahy, Ben, Iyer, Nisha, Nguyen, Christine T, Tung, Kayee, Stewart, Bryan A, van den Dorpel, Hubrecht, Fuehrmann, Tobias, Shoichet, Molly, Bigot, Anne, Pegoraro, Elena, Ahn, Henry, Ginsberg, Howard, Zhen, Mei, Ashton, Randolph Scott, Gilbert, Penney M

“…Two-dimensional (2D) human skeletal muscle fiber cultures are ill-equipped to support the contractile properties of maturing muscle fibers. This limits their…”
Get full text

Genetic modifiers of ambulation in the cooperative international Neuromuscular research group Duchenne natural history study by Bello, Luca, Kesari, Akanchha, Gordish-Dressman, Heather, Cnaan, Avital, Morgenroth, Lauren P., Punetha, Jaya, Duong, Tina, Henricson, Erik K., Pegoraro, Elena, McDonald, Craig M., Hoffman, Eric P.

“…Objective We studied the effects of LTBP4 and SPP1 polymorphisms on age at loss of ambulation (LoA) in a multiethnic Duchenne muscular dystrophy (DMD) cohort…”
Get full text

The value of serum creatinine as biomarker of disease progression in spinal and bulbar muscular atrophy (SBMA) by Blasi, Lorenzo, Sabbatini, Daniele, Fortuna, Andrea, Querin, Giorgia, Martinelli, Ilaria, Vianello, Sara, Bertolin, Cinzia, Pareyson, Davide, Pennuto, Maria, Pegoraro, Elena, Bello, Luca, Sorarù, Gianni

“…Serum creatinine has been indicated as a potential marker of motor function in SBMA and results form previous longitudinal studies pointed to its decline over…”
Get full text

Increased mitophagy in the skeletal muscle of spinal and bulbar muscular atrophy patients by Borgia, Doriana, Malena, Adriana, Spinazzi, Marco, Desbats, Maria Andrea, Salviati, Leonardo, Russell, Aaron P, Miotto, Giovanni, Tosatto, Laura, Pegoraro, Elena, Sorarù, Gianni, Pennuto, Maria, Vergani, Lodovica

“…Spinal and bulbar muscular atrophy (SBMA) is a neuromuscular disorder caused by polyglutamine expansion in the androgen receptor (AR) and characterized by the…”
Get full text

The FSHD2 Gene SMCHD1 Is a Modifier of Disease Severity in Families Affected by FSHD1 by Sacconi, Sabrina, Lemmers, Richard J.L.F., Balog, Judit, van der Vliet, Patrick J., Lahaut, Pauline, van Nieuwenhuizen, Merlijn P., Straasheijm, Kirsten R., Debipersad, Rashmie D., Vos-Versteeg, Marianne, Salviati, Leonardo, Casarin, Alberto, Pegoraro, Elena, Tawil, Rabi, Bakker, Egbert, Tapscott, Stephen J., Desnuelle, Claude, van der Maarel, Silvère M.

“…Facioscapulohumeral muscular dystrophy type 1 (FSHD1) is caused by contraction of the D4Z4 repeat array on chromosome 4 to a size of 1–10 units. The residual…”
Get full text

The relevance of migraine in the clinical spectrum of mitochondrial disorders by Terrin, Alberto, Bello, Luca, Valentino, Maria Lucia, Caporali, Leonardo, Sorarù, Gianni, Carelli, Valerio, Maggioni, Ferdinando, Zeviani, Massimo, Pegoraro, Elena

“…Recent scientific evidence suggests a link between migraine and brain energy metabolism. In fact, migraine is frequently observed in mitochondrial disorders…”
Get full text

Cored in the act: the use of models to understand core myopathies by Fusto, Aurora, Moyle, Louise A, Gilbert, Penney M, Pegoraro, Elena

“…The core myopathies are a group of congenital myopathies with variable clinical expression - ranging from early-onset skeletal-muscle weakness to later-onset…”
Get full text

SPP1 genotype and glucocorticoid treatment modify osteopontin expression in Duchenne muscular dystrophy cells by Vianello, Sara, Pantic, Boris, Fusto, Aurora, Bello, Luca, Galletta, Eva, Borgia, Doriana, Gavassini, Bruno F, Semplicini, Claudio, Sorarù, Gianni, Vitiello, Libero, Pegoraro, Elena

“…Glucocorticoids are beneficial in Duchenne muscular dystrophy (DMD). Osteopontin (OPN), the protein product of SPP1, plays a role in DMD pathology modulating…”
Get full text

Long term natural history data in ambulant boys with Duchenne muscular dystrophy: 36-month changes by Pane, Marika, Mazzone, Elena Stacy, Sivo, Serena, Sormani, Maria Pia, Messina, Sonia, D'Amico, Adele, Carlesi, Adelina, Vita, Gianluca, Fanelli, Lavinia, Berardinelli, Angela, Torrente, Yvan, Lanzillotta, Valentina, Viggiano, Emanuela, D Ambrosio, Paola, Cavallaro, Filippo, Frosini, Silvia, Barp, Andrea, Bonfiglio, Serena, Scalise, Roberta, De Sanctis, Roberto, Rolle, Enrica, Graziano, Alessandra, Magri, Francesca, Palermo, Concetta, Rossi, Francesca, Donati, Maria Alice, Sacchini, Michele, Arnoldi, Maria Teresa, Baranello, Giovanni, Mongini, Tiziana, Pini, Antonella, Battini, Roberta, Pegoraro, Elena, Previtali, Stefano, Bruno, Claudio, Politano, Luisa, Comi, Giacomo P, Bertini, Enrico, Mercuri, Eugenio

“…The 6 minute walk test has been recently chosen as the primary outcome measure in international multicenter clinical trials in Duchenne muscular dystrophy…”
Get full text

Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E by Semplicini, Claudio, Vissing, John, Dahlqvist, Julia R, Stojkovic, Tanya, Bello, Luca, Witting, Nanna, Duno, Morten, Leturcq, France, Bertolin, Cinzia, DʼAmbrosio, Paola, Eymard, Bruno, Angelini, Corrado, Politano, Luisa, Laforêt, Pascal, Pegoraro, Elena

“…OBJECTIVE:To determine the clinical spectrum of limb-girdle muscular dystrophy 2E (LGMD2E) and to investigate whether genetic or biochemical features can…”
Get full text

Non-neural phenotype of spinal and bulbar muscular atrophy: results from a large cohort of Italian patients by Querin, Giorgia, Bertolin, Cinzia, Da Re, Elisa, Volpe, Marco, Zara, Gabriella, Pegoraro, Elena, Caretta, Nicola, Foresta, Carlo, Silvano, Maria, Corrado, Domenico, Iafrate, Massimo, Angelini, Lorenzo, Sartori, Leonardo, Pennuto, Maria, Gaiani, Alessandra, Bello, Luca, Semplicini, Claudio, Pareyson, Davide, Silani, Vincenzo, Ermani, Mario, Ferlin, Alberto, Sorarù, Gianni

“…ObjectiveTo carry out a deep characterisation of the main androgen-responsive tissues involved in spinal and bulbar muscular atrophy (SBMA).Methods73…”
Get full text

Genetic Modifiers of Duchenne Muscular Dystrophy and Dilated Cardiomyopathy by Barp, Andrea, Bello, Luca, Politano, Luisa, Melacini, Paola, Calore, Chiara, Polo, Angela, Vianello, Sara, Sorarù, Gianni, Semplicini, Claudio, Pantic, Boris, Taglia, Antonella, Picillo, Ester, Magri, Francesca, Gorni, Ksenija, Messina, Sonia, Vita, Gian Luca, Vita, Giuseppe, Comi, Giacomo P, Ermani, Mario, Calvo, Vincenzo, Angelini, Corrado, Hoffman, Eric P, Pegoraro, Elena

“…Dilated cardiomyopathy (DCM) is a major complication and leading cause of death in Duchenne muscular dystrophy (DMD). DCM onset is variable, suggesting…”
Get full text

The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study by Neri, Marcella, Rossi, Rachele, Trabanelli, Cecilia, Mauro, Antonio, Selvatici, Rita, Falzarano, Maria Sofia, Spedicato, Noemi, Margutti, Alice, Rimessi, Paola, Fortunato, Fernanda, Fabris, Marina, Gualandi, Francesca, Comi, Giacomo, Tedeschi, Silvana, Seia, Manuela, Fiorillo, Chiara, Traverso, Monica, Bruno, Claudio, Giardina, Emiliano, Piemontese, Maria Rosaria, Merla, Giuseppe, Cau, Milena, Marica, Monica, Scuderi, Carmela, Borgione, Eugenia, Tessa, Alessandra, Astrea, Guia, Santorelli, Filippo Maria, Merlini, Luciano, Mora, Marina, Bernasconi, Pia, Gibertini, Sara, Sansone, Valeria, Mongini, Tiziana, Berardinelli, Angela, Pini, Antonella, Liguori, Rocco, Filosto, Massimiliano, Messina, Sonia, Vita, Gianluca, Toscano, Antonio, Vita, Giuseppe, Pane, Marika, Servidei, Serenella, Pegoraro, Elena, Bello, Luca, Travaglini, Lorena, Bertini, Enrico, D'Amico, Adele, Ergoli, Manuela, Politano, Luisa, Torella, Annalaura, Nigro, Vincenzo, Mercuri, Eugenio, Ferlini, Alessandra

“…Dystrophinopathies are inherited diseases caused by mutations in the dystrophin ( ) gene for which testing is mandatory for genetic diagnosis, reproductive…”
Get full text

Age, corticosteroid treatment and site of mutations affect motor functional changes in young boys with Duchenne Muscular Dystrophy by Coratti, Giorgia, Lenkowicz, Jacopo, Norcia, Giulia, Lucibello, Simona, Ferraroli, Elisabetta, d'Amico, Adele, Bello, Luca, Pegoraro, Elena, Messina, Sonia, Ricci, Federica, Mongini, Tiziana, Berardinelli, Angela, Masson, Riccardo, Previtali, Stefano C, D'angelo, Grazia, Magri, Francesca, Comi, Giacomo P, Politano, Luisa, Passamano, Luigia, Vita, Gianluca, Sansone, Valeria A, Albamonte, Emilio, Panicucci, Chiara, Bruno, Claudio, Pini, Antonella, Bertini, Enrico, Patarnello, Stefano, Pane, Marika, Mercuri, Eugenio

“…The aim of this study was to establish the possible effect of age, corticosteroid treatment and brain dystrophin involvement on motor function in young boys…”
Get full text

Collagen VI deficiency causes behavioral abnormalities and cortical dopaminergic dysfunction by Gregorio, Ilaria, Mereu, Maddalena, Contarini, Gabriella, Bello, Luca, Semplicini, Claudio, Burgio, Francesca, Russo, Loris, Sut, Stefania, Dall'Acqua, Stefano, Braghetta, Paola, Semenza, Carlo, Pegoraro, Elena, Papaleo, Francesco, Bonaldo, Paolo, Cescon, Matilde

“…ABSTRACT Mutations of genes coding for collagen VI (COL6) cause muscle diseases, including Ullrich congenital muscular dystrophy and Bethlem myopathy. Although…”
Get full text

The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender? by Mancuso, Michelangelo, Orsucci, Daniele, Angelini, Corrado, Bertini, Enrico, Carelli, Valerio, Comi, Giacomo Pietro, Donati, Alice, Minetti, Carlo, Moggio, Maurizio, Mongini, Tiziana, Servidei, Serenella, Tonin, Paola, Toscano, Antonio, Uziel, Graziella, Bruno, Claudio, Ienco, Elena Caldarazzo, Filosto, Massimiliano, Lamperti, Costanza, Catteruccia, Michela, Moroni, Isabella, Musumeci, Olimpia, Pegoraro, Elena, Ronchi, Dario, Santorelli, Filippo Maria, Sauchelli, Donato, Scarpelli, Mauro, Sciacco, Monica, Valentino, Maria Lucia, Vercelli, Liliana, Zeviani, Massimo, Siciliano, Gabriele

“…The m.3243A>G “MELAS” (mitochondrial encephalopathy with lactic acidosis and stroke-like episodes) mutation is one of the most common point mutations of the…”
Get full text

Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study by D'Amore, Angelica, Tessa, Alessandra, Casali, Carlo, Dotti, Maria Teresa, Filla, Alessandro, Silvestri, Gabriella, Antenora, Antonella, Astrea, Guja, Barghigiani, Melissa, Battini, Roberta, Battisti, Carla, Bruno, Irene, Cereda, Cristina, Dato, Clemente, Di Iorio, Giuseppe, Donadio, Vincenzo, Felicori, Monica, Fini, Nicola, Fiorillo, Chiara, Gallone, Salvatore, Gemignani, Federica, Gigli, Gian Luigi, Graziano, Claudio, Guerrini, Renzo, Gurrieri, Fiorella, Kariminejad, Ariana, Lieto, Maria, Marques LourenḈo, Charles, Malandrini, Alessandro, Mandich, Paola, Marcotulli, Christian, Mari, Francesco, Massacesi, Luca, Melone, Maria A B, Mignarri, Andrea, Milone, Roberta, Musumeci, Olimpia, Pegoraro, Elena, Perna, Alessia, Petrucci, Antonio, Pini, Antonella, Pochiero, Francesca, Pons, Maria Roser, Ricca, Ivana, Rossi, Salvatore, Seri, Marco, Stanzial, Franco, Tinelli, Francesca, Toscano, Antonio, Valente, Mariarosaria, Federico, Antonio, Rubegni, Anna, Santorelli, Filippo Maria

“…Hereditary spastic paraplegia (HSP) refers to a group of genetically heterogeneous neurodegenerative motor neuron disorders characterized by progressive…”
Get full text