eATP/P2X7R Axis: An Orchestrated Pathway Triggering Inflammasome Activation in Muscle Diseases

por Panicucci, Chiara, Raffaghello, Lizzia, Bruzzone, Santina, Baratto, Serena, Principi, Elisa, Minetti, Carlo, Gazzerro, Elisabetta, Bruno, Claudio
Publicado 2020

Congenital myopathy associated with a novel mutation in MEGF10 gene, myofibrillar alteration and progressive course

por Croci, Carolina, Traverso, Monica, Baratto, Serena, Iacomino, Michele, Pedemonte, Marina, Caroli, Francesco, Scala, Marcello, Bruno, Claudio, Fiorillo, Chiara
Publicado 2022

Novel TRIM32 mutation in sarcotubular myopathy

por PANICUCCI, CHIARA, TRAVERSO, MONICA, BARATTO, SERENA, ROMEO, CHIARA, IACOMINO, MICHELE, GEMELLI, CHIARA, TAGLIAFICO, ALBERTO, BRODA, PAOLO, ZARA, FEDERICO, BRUNO, CLAUDIO, MINETTI, CARLO, FIORILLO, CHIARA
Publicado 2019

P2X7 Receptor Antagonist Reduces Fibrosis and Inflammation in a Mouse Model of Alpha-Sarcoglycan Muscular Dystrophy

por Raffaghello, Lizzia, Principi, Elisa, Baratto, Serena, Panicucci, Chiara, Pintus, Sara, Antonini, Francesca, Del Zotto, Genny, Benzi, Andrea, Bruzzone, Santina, Scudieri, Paolo, Minetti, Carlo, Gazzerro, Elisabetta, Bruno, Claudio
Publicado 2022

Myopathologic trajectory in Duchenne muscular dystrophy (DMD) reveals lack of regeneration due to senescence in satellite cells

por Cardone, Nastasia, Taglietti, Valentina, Baratto, Serena, Kefi, Kaouthar, Periou, Baptiste, Gitiaux, Ciryl, Barnerias, Christine, Lafuste, Peggy, Pharm, France Leturcq, Pharm, Juliette Nectoux, Panicucci, Chiara, Desguerre, Isabelle, Bruno, Claudio, Authier, François-Jerome, Fiorillo, Chiara, Relaix, Frederic, Malfatti, Edoardo
Publicado 2023

The Role of Muscle Biopsy in Diagnostic Process of Infant Hypotonia: From Clinical Classification to the Genetic Outcome

por Veneruso, Marco, Fiorillo, Chiara, Broda, Paolo, Baratto, Serena, Traverso, Monica, Donati, Alice, Savasta, Salvatore, Falsaperla, Raffaele, Mancardi, Maria Margherita, Pedemonte, Marina, Panicucci, Chiara, Piatelli, Gianluca, Pacetti, Mattia, Moscatelli, Andrea, Ramenghi, Luca Antonio, Nobili, Lino, Minetti, Carlo, Bruno, Claudio
Publicado 2021

Clinical and functional characterization of a long survivor congenital titinopathy patient with a novel metatranscript-only titin variant

por Cardone, Nastasia, Moula, Melissa, Baelde, Rianne J., Biquand, Ariane, Villanova, Marcello, Metay, Corinne, Fiorillo, Chiara, Baratto, Serena, Merlini, Luciano, Sabatelli, Patrizia, Romero, Norma B., Relaix, Frederic, Authier, François Jérôme, Taglietti, Valentina, Savarese, Marco, de Winter, Josine, Ottenheijm, Coen, Richard, Isabelle, Malfatti, Edoardo
Publicado 2023

The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment

por Fiorillo, Chiara, Capodivento, Giovanna, Geroldi, Alessandro, Tozza, Stefano, Moroni, Isabella, Mohassel, Payam, Cataldi, Matteo, Campana, Chiara, Morando, Simone, Panicucci, Chiara, Pedemonte, Marina, Brolatti, Noemi, Siliquini, Sabrina, Traverso, Monica, Baratto, Serena, Debellis, Doriana, Magri, Stefania, Prada, Valeria, Bellone, Emilia, Salpietro, Vincenzo, Donkervoort, Sandra, Gable, Kenneth, Gupta, Sita D., Dunn, Teresa M., Bönnemann, Carsten G., Taroni, Franco, Bruno, Claudio, Schenone, Angelo, Mandich, Paola, Nobbio, Lucilla, Nolano, Maria
Publicado 2022