Detection of early nocturnal hypoventilation in neuromuscular disorders

by Trucco, Federica, Pedemonte, Marina, Fiorillo, Chiara, Tan, Hui-leng, Carlucci, Annalisa, Brisca, Giacomo, Tacchetti, Paola, Bruno, Claudio, Minetti, Carlo
Published in J Int Med Res (2017)

Congenital myopathies: clinical phenotypes and new diagnostic tools

by Cassandrini, Denise, Trovato, Rosanna, Rubegni, Anna, Lenzi, Sara, Fiorillo, Chiara, Baldacci, Jacopo, Minetti, Carlo, Astrea, Guja, Bruno, Claudio, Santorelli, Filippo M.
Published in Ital J Pediatr (2017)

Widening the Heterogeneity of Leigh Syndrome: Clinical, Biochemical, and Neuroradiologic Features in a Patient Harboring a NDUFA10 Mutation

by Minoia, Francesca, Bertamino, Marta, Picco, Paolo, Severino, Mariasavina, Rossi, Andrea, Fiorillo, Chiara, Minetti, Carlo, Nesti, Claudia, Santorelli, Filippo Maria, Di Rocco, Maja
Published in JIMD Rep (2017)

Novel TRIM32 mutation in sarcotubular myopathy

by PANICUCCI, CHIARA, TRAVERSO, MONICA, BARATTO, SERENA, ROMEO, CHIARA, IACOMINO, MICHELE, GEMELLI, CHIARA, TAGLIAFICO, ALBERTO, BRODA, PAOLO, ZARA, FEDERICO, BRUNO, CLAUDIO, MINETTI, CARLO, FIORILLO, CHIARA
Published in Acta Myol (2019)

Mutations in GMPPB Presenting with Pseudometabolic Myopathy

by Panicucci, Chiara, Fiorillo, Chiara, Moro, Francesca, Astrea, Guja, Brisca, Giacomo, Trucco, Federica, Pedemonte, Marina, Lanteri, Paola, Sciarretta, Lucia, Minetti, Carlo, Santorelli, Filippo M., Bruno, Claudio
Published in JIMD Rep (2017)

Expanding the Clinical and Magnetic Resonance Spectrum of Leukoencephalopathy with Thalamus and Brainstem Involvement and High Lactate (LTBL) in a Patient Harboring a Novel EARS2 M...

by Biancheri, Roberta, Lamantea, Eleonora, Severino, Mariasavina, Diodato, Daria, Pedemonte, Marina, Cassandrini, Denise, Ploederl, Alexandra, Trucco, Federica, Fiorillo, Chiara, Minetti, Carlo, Santorelli, Filippo M., Zeviani, Massimo, Bruno, Claudio
Published in JIMD Rep (2015)

Novel dynein DYNC1H1 neck and motor domain mutations link distal SMA and abnormal cortical development

by Fiorillo, Chiara, Moro, Francesca, Yi, Julie, Weil, Sarah, Brisca, Giacomo, Astrea, Guja, Severino, Mariasavina, Romano, Alessandro, Battini, Roberta, Rossi, Andrea, Minetti, Carlo, Bruno, Claudio, Santorelli, Filippo M., Vallee, Richard
Published 2014

Neuromuscular and Neuroendocrinological Features Associated With ZC4H2-Related Arthrogryposis Multiplex Congenita in a Sicilian Family: A Case Report

by Piccolo, Gianluca, d'Annunzio, Giuseppe, Amadori, Elisabetta, Riva, Antonella, Borgia, Paola, Tortora, Domenico, Maghnie, Mohamad, Minetti, Carlo, Gitto, Eloisa, Iacomino, Michele, Baldassari, Simona, Fiorillo, Chiara, Zara, Federico, Striano, Pasquale, Salpietro, Vincenzo
Published in Front Neurol (2021)

Stem Cell Modeling of Neuroferritinopathy Reveals Iron as a Determinant of Senescence and Ferroptosis during Neuronal Aging

by Cozzi, Anna, Orellana, Daniel I., Santambrogio, Paolo, Rubio, Alicia, Cancellieri, Cinzia, Giannelli, Serena, Ripamonti, Maddalena, Taverna, Stefano, Di Lullo, Giulia, Rovida, Ermanna, Ferrari, Maurizio, Forni, Gian Luca, Fiorillo, Chiara, Broccoli, Vania, Levi, Sonia
Published in Stem Cell Reports (2019)

Functional analysis of POLD1 p.ser605del variant: the aging phenotype of MDPL syndrome is associated with an impaired DNA repair capacity

by Murdocca, Michela, Spitalieri, Paola, De Masi, Claudia, Udroiu, Ion, Marinaccio, Jessica, Sanchez, Massimo, Talarico, Rosa Valentina, Fiorillo, Chiara, D’Adamo, Monica, Sbraccia, Paolo, D’Apice, Maria Rosaria, Novelli, Giuseppe, Sgura, Antonella, Sangiuolo, Federica
Published in Aging (Albany NY) (2021)

Musculoskeletal Features without Ataxia Associated with a Novel de novo Mutation in KCNA1 Impairing the Voltage Sensitivity of Kv1.1 Channel

by Imbrici, Paola, Accogli, Andrea, Blunck, Rikard, Altamura, Concetta, Iacomino, Michele, D’Adamo, Maria Cristina, Allegri, Anna, Pedemonte, Marina, Brolatti, Noemi, Vari, Stella, Cataldi, Matteo, Capra, Valeria, Gustincich, Stefano, Zara, Federico, Desaphy, Jean-Francois, Fiorillo, Chiara
Published in Biomedicines (2021)

Centronuclear myopathy related to dynamin 2 mutations: Clinical, morphological, muscle imaging and genetic features of an Italian cohort

by Catteruccia, Michela, Fattori, Fabiana, Codemo, Valentina, Ruggiero, Lucia, Maggi, Lorenzo, Tasca, Giorgio, Fiorillo, Chiara, Pane, Marika, Berardinelli, Angela, Verardo, Margherita, Bragato, Cinzia, Mora, Marina, Morandi, Lucia, Bruno, Claudio, Santoro, Lucio, Pegoraro, Elena, Mercuri, Eugenio, Bertini, Enrico, D’Amico, Adele
Published 2013

Muscle MRI in neutral lipid storage disease (NLSD)

by Garibaldi, Matteo, Tasca, Giorgio, Diaz-Manera, Jordi, Ottaviani, Pierfancesco, Laschena, Francesco, Pantoli, Donatella, Gerevini, Simonetta, Fiorillo, Chiara, Maggi, Lorenzo, Tasca, Elisabetta, D’Amico, Adele, Musumeci, Olimpia, Toscano, Antonio, Bruno, Claudio, Massa, Roberto, Angelini, Corrado, Bertini, Enrico, Antonini, Giovanni, Pennisi, Elena Maria
Published in J Neurol (2017)

Erratum to: Muscle MRI in neutral lipid storage disease (NLSD)

by Garibaldi, Matteo, Tasca, Giorgio, Diaz-Manera, Jordi, Ottaviani, Pierfancesco, Laschena, Francesco, Pantoli, Donatella, Gerevini, Simonetta, Fiorillo, Chiara, Maggi, Lorenzo, Tasca, Elisabetta, D’Amico, Adele, Musumeci, Olimpia, Toscano, Antonio, Bruno, Claudio, Massa, Roberto, Angelini, Corrado, Bertini, Enrico, Antonini, Giovanni, Pennisi, Elena Maria
Published in J Neurol (2017)

Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers

by Savarese, Marco, Musumeci, Olimpia, Giugliano, Teresa, Rubegni, Anna, Fiorillo, Chiara, Fattori, Fabiana, Torella, Annalaura, Battini, Roberta, Rodolico, Carmelo, Pugliese, Aniello, Piluso, Giulio, Maggi, Lorenzo, D'Amico, Adele, Bruno, Claudio, Bertini, Enrico, Santorelli, Filippo Maria, Mora, Marina, Toscano, Antonio, Minetti, Carlo, Nigro, Vincenzo
Published in Neuromuscul Disord (2016)

Impairments in contractility and cytoskeletal organisation cause nuclear defects in nemaline myopathy

by Ross, Jacob A., Levy, Yotam, Ripolone, Michela, Kolb, Justin S., Turmaine, Mark, Holt, Mark, Lindqvist, Johan, Claeys, Kristl G., Weis, Joachim, Monforte, Mauro, Tasca, Giorgio, Moggio, Maurizio, Figeac, Nicolas, Zammit, Peter S., Jungbluth, Heinz, Fiorillo, Chiara, Vissing, John, Witting, Nanna, Granzier, Henk, Zanoteli, Edmar, Hardeman, Edna C., Wallgren-Pettersson, Carina, Ochala, Julien
Published in Acta Neuropathol (2019)

Clinical expression of facioscapulohumeral muscular dystrophy in carriers of 1–3 D4Z4 reduced alleles: experience of the FSHD Italian National Registry

by Nikolic, Ana, Ricci, Giulia, Sera, Francesco, Bucci, Elisabetta, Govi, Monica, Mele, Fabiano, Rossi, Marta, Ruggiero, Lucia, Vercelli, Liliana, Ravaglia, Sabrina, Brisca, Giacomo, Fiorillo, Chiara, Villa, Luisa, Maggi, Lorenzo, Cao, Michelangelo, D'Amico, Maria Chiara, Siciliano, Gabriele, Antonini, Giovanni, Santoro, Lucio, Mongini, Tiziana, Moggio, Maurizio, Morandi, Lucia, Pegoraro, Elena, Angelini, Corrado, Di Muzio, Antonio, Rodolico, Carmelo, Tomelleri, Giuliano, Grazia D'Angelo, Maria, Bruno, Claudio, Berardinelli, Angela, Tupler, Rossella
Published in BMJ Open (2016)

Copy Number Variants Account for a Tiny Fraction of Undiagnosed Myopathic Patients

by Giugliano, Teresa, Savarese, Marco, Garofalo, Arcomaria, Picillo, Esther, Fiorillo, Chiara, D’Amico, Adele, Maggi, Lorenzo, Ruggiero, Lucia, Vercelli, Liliana, Magri, Francesca, Fattori, Fabiana, Torella, Annalaura, Ergoli, Manuela, Rubegni, Anna, Fanin, Marina, Musumeci, Olimpia, Bleecker, Jan De, Peverelli, Lorenzo, Moggio, Maurizio, Mercuri, Eugenio, Toscano, Antonio, Mora, Marina, Santoro, Lucio, Mongini, Tiziana, Bertini, Enrico, Bruno, Claudio, Minetti, Carlo, Comi, Giacomo Pietro, Santorelli, Filippo Maria, Angelini, Corrado, Politano, Luisa, Piluso, Giulio, Nigro, Vincenzo
Published in Genes (Basel) (2018)

Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study

by Astrea, Guja, Romano, Alessandro, Angelini, Corrado, Antozzi, Carlo Giuseppe, Barresi, Rita, Battini, Roberta, Battisti, Carla, Bertini, Enrico, Bruno, Claudio, Cassandrini, Denise, Fanin, Marina, Fattori, Fabiana, Fiorillo, Chiara, Guerrini, Renzo, Maggi, Lorenzo, Mercuri, Eugenio, Morani, Federica, Mora, Marina, Moro, Francesca, Pezzini, Ilaria, Picillo, Esther, Pinelli, Michele, Politano, Luisa, Rubegni, Anna, Sanseverino, Walter, Savarese, Marco, Striano, Pasquale, Torella, Annalaura, Trevisan, Carlo Pietro, Trovato, Rosanna, Zaraieva, Irina, Muntoni, Francesco, Nigro, Vincenzo, D’Amico, Adele, Santorelli, Filippo M.
Published in Orphanet J Rare Dis (2018)

Interpretation of the Epigenetic Signature of Facioscapulohumeral Muscular Dystrophy in Light of Genotype-Phenotype Studies

by Nikolic, Ana, Jones, Takako I, Govi, Monica, Mele, Fabiano, Maranda, Louise, Sera, Francesco, Ricci, Giulia, Ruggiero, Lucia, Vercelli, Liliana, Portaro, Simona, Villa, Luisa, Fiorillo, Chiara, Maggi, Lorenzo, Santoro, Lucio, Antonini, Giovanni, Filosto, Massimiliano, Moggio, Maurizio, Angelini, Corrado, Pegoraro, Elena, Berardinelli, Angela, Maioli, Maria Antonetta, D’Angelo, Grazia, Di Muzio, Antonino, Siciliano, Gabriele, Tomelleri, Giuliano, D’Esposito, Maurizio, Della Ragione, Floriana, Brancaccio, Arianna, Piras, Rachele, Rodolico, Carmelo, Mongini, Tiziana, Magdinier, Frederique, Salsi, Valentina, Jones, Peter L., Tupler, Rossella
Published in Int J Mol Sci (2020)