Respiratory muscle involvement in HNRNPDL LGMD D3 muscular dystrophy: an extensive clinical description of the first Italian patient

por Malfatti, Edoardo, Cassandrini, Denise, Rubegni, Anna, Sartorelli, Filippo M., Villanova, Marcello
Publicado 2020

Alpha-sarcoglycanopathy presenting as myalgia and hyperCKemia in two adults with a long-term follow-up. Case reports

por Dosi, Claudia, Rubegni, Anna, Cassandrini, Denise, Malandrini, Alessandro, Maggi, Lorenzo, Donati, M. Alice, Santorelli, Filippo M.
Publicado 2020

Severe cardiomyopathy in a young patient with complete deficiency of adipose triglyceride lipase due to a novel mutation in PNPLA2 gene

por Pasanisi, Maria Barbara, Missaglia, Sara, Cassandrini, Denise, Salerno, Franco, Farina, Stefania, Andreini, Daniele, Agostoni, Piergiuseppe, Morandi, Lucia, Mora, Marina, Tavian, Daniela
Publicado 2016

Congenital myopathies: clinical phenotypes and new diagnostic tools

por Cassandrini, Denise, Trovato, Rosanna, Rubegni, Anna, Lenzi, Sara, Fiorillo, Chiara, Baldacci, Jacopo, Minetti, Carlo, Astrea, Guja, Bruno, Claudio, Santorelli, Filippo M.
Publicado 2017

Myoimaging in the NGS era: the discovery of a novel mutation in MYH7 in a family with distal myopathy and core-like features – a case report

por Astrea, Guja, Petrucci, Antonio, Cassandrini, Denise, Savarese, Marco, Trovato, Rosanna, Lispi, Ludovico, Rubegni, Anna, Giacanelli, Manlio, Massa, Roberto, Nigro, Vincenzo, Santorelli, Filippo M.
Publicado 2016

Late onset of neutral lipid storage disease due to novel PNPLA2 mutations causing total loss of lipase activity in a patient with myopathy and slight cardiac involvement

por Missaglia, Sara, Maggi, Lorenzo, Mora, Marina, Gibertini, Sara, Blasevich, Flavia, Agostoni, Piergiuseppe, Moro, Laura, Cassandrini, Denise, Santorelli, Filippo Maria, Gerevini, Simonetta, Tavian, Daniela
Publicado 2017

Evaluation of Chromosome Microarray Analysis in a Large Cohort of Females with Autism Spectrum Disorders: A Single Center Italian Study

por Calderoni, Sara, Ricca, Ivana, Balboni, Giulia, Cagiano, Romina, Cassandrini, Denise, Doccini, Stefano, Cosenza, Angela, Tolomeo, Deborah, Tancredi, Raffaella, Santorelli, Filippo Maria, Muratori, Filippo
Publicado 2020

MYH2 myopathy, a new case expands the clinical and pathological spectrum of the recessive form

por Telese, Roberta, Pagliarani, Serena, Lerario, Alberto, Ciscato, Patrizia, Fagiolari, Gigliola, Cassandrini, Denise, Grimoldi, Nadia, Conte, Giorgio, Cinnante, Claudia, Santorelli, Filippo M., Comi, Giacomo P., Sciacco, Monica, Peverelli, Lorenzo
Publicado 2020

VARS2-linked mitochondrial encephalopathy: two case reports enlarging the clinical phenotype

por Begliuomini, Chiara, Magli, Giorgio, Di Rocco, Maja, Santorelli, Filippo M., Cassandrini, Denise, Nesti, Claudia, Deodato, Federica, Diodato, Daria, Casellato, Susanna, Simula, Delia M., Dessì, Veronica, Eusebi, Anna, Carta, Alessandra, Sotgiu, Stefano
Publicado 2019

Early Findings in Neonatal Cases of RYR1–Related Congenital Myopathies

por Mauri, Eleonora, Piga, Daniela, Govoni, Alessandra, Brusa, Roberta, Pagliarani, Serena, Ripolone, Michela, Dilena, Robertino, Cinnante, Claudia, Sciacco, Monica, Cassandrini, Denise, Nigro, Vincenzo, Bresolin, Nereo, Corti, Stefania, Comi, Giacomo P., Magri, Francesca
Publicado 2021

Neutral Lipid Storage Diseases: clinical/genetic features and natural history in a large cohort of Italian patients

por Pennisi, Elena Maria, Arca, Marcello, Bertini, Enrico, Bruno, Claudio, Cassandrini, Denise, D’amico, Adele, Garibaldi, Matteo, Gragnani, Francesca, Maggi, Lorenzo, Massa, Roberto, Missaglia, Sara, Morandi, Lucia, Musumeci, Olimpia, Pegoraro, Elena, Rastelli, Emanuele, Santorelli, Filippo Maria, Tasca, Elisabetta, Tavian, Daniela, Toscano, Antonio, Angelini, Corrado
Publicado 2017

The Diagnostic Approach to Mitochondrial Disorders in Children in the Era of Next-Generation Sequencing: A 4-Year Cohort Study

por Tolomeo, Deborah, Orsucci, Daniele, Nesti, Claudia, Baldacci, Jacopo, Battini, Roberta, Bruno, Claudio, Bruno, Giorgia, Cassandrini, Denise, Doccini, Stefano, Donati, M. Alice, Ferrari, Annarita, Fiori, Simona, Fiorillo, Chiara, Guerrini, Renzo, Mari, Francesco, Montomoli, Martino, Pochiero, Francesca, Procopio, Elena, Ruggiero, Lucia, Sampaolo, Simone, Sicca, Federico, Ticci, Chiara, Rubegni, Anna, Santorelli, Filippo M.
Publicado 2021

Next-generation sequencing approach to hyperCKemia: A 2-year cohort study

por Rubegni, Anna, Malandrini, Alessandro, Dosi, Claudia, Astrea, Guja, Baldacci, Jacopo, Battisti, Carla, Bertocci, Giulia, Donati, M. Alice, Dotti, M. Teresa, Federico, Antonio, Giannini, Fabio, Grosso, Salvatore, Guerrini, Renzo, Lenzi, Sara, Maioli, Maria A., Melani, Federico, Mercuri, Eugenio, Sacchini, Michele, Salvatore, Simona, Siciliano, Gabriele, Tolomeo, Deborah, Tonin, Paola, Volpi, Nila, Santorelli, Filippo M., Cassandrini, Denise
Publicado 2019

A Schematic Approach to Defining the Prevalence of COL VI Variants in Five Years of Next-Generation Sequencing

por Marinella, Gemma, Astrea, Guja, Buchignani, Bianca, Cassandrini, Denise, Doccini, Stefano, Filosto, Massimiliano, Galatolo, Daniele, Gallone, Salvatore, Giannini, Fabio, Lopergolo, Diego, Maioli, Maria Antonietta, Magri, Francesca, Malandrini, Alessandro, Mandich, Paola, Mari, Francesco, Massa, Roberto, Mata, Sabrina, Melani, Federico, Moggio, Maurizio, Mongini, Tiziana E., Pasquariello, Rosa, Pegoraro, Elena, Ricci, Federica, Ricci, Giulia, Rodolico, Carmelo, Rubegni, Anna, Siciliano, Gabriele, Sperti, Martina, Ticci, Chiara, Tonin, Paola, Santorelli, Filippo M., Battini, Roberta
Publicado 2022

Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study

por Fusto, Aurora, Cassandrini, Denise, Fiorillo, Chiara, Codemo, Valentina, Astrea, Guja, D’Amico, Adele, Maggi, Lorenzo, Magri, Francesca, Pane, Marika, Tasca, Giorgio, Sabbatini, Daniele, Bello, Luca, Battini, Roberta, Bernasconi, Pia, Fattori, Fabiana, Bertini, Enrico Silvio, Comi, Giacomo, Messina, Sonia, Mongini, Tiziana, Moroni, Isabella, Panicucci, Chiara, Berardinelli, Angela, Donati, Alice, Nigro, Vincenzo, Pini, Antonella, Giannotta, Melania, Dosi, Claudia, Ricci, Enzo, Mercuri, Eugenio, Minervini, Giovanni, Tosatto, Silvio, Santorelli, Filippo, Bruno, Claudio, Pegoraro, Elena
Publicado 2022

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

por 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.
Publicado 2018

Using Cluster Analysis to Overcome the Limits of Traditional Phenotype–Genotype Correlations: The Example of RYR1-Related Myopathies

por Dosi, Claudia, Rubegni, Anna, Baldacci, Jacopo, Galatolo, Daniele, Doccini, Stefano, Astrea, Guja, Berardinelli, Angela, Bruno, Claudio, Bruno, Giorgia, Comi, Giacomo Pietro, Donati, Maria Alice, Dotti, Maria Teresa, Filosto, Massimiliano, Fiorillo, Chiara, Giannini, Fabio, Gigli, Gian Luigi, Grandis, Marina, Lopergolo, Diego, Magri, Francesca, Maioli, Maria Antonietta, Malandrini, Alessandro, Massa, Roberto, Matà, Sabrina, Melani, Federico, Messina, Sonia, Mignarri, Andrea, Moggio, Maurizio, Pennisi, Elena Maria, Pegoraro, Elena, Ricci, Giulia, Sacchini, Michele, Schenone, Angelo, Sampaolo, Simone, Sciacco, Monica, Siciliano, Gabriele, Tasca, Giorgio, Tonin, Paola, Tupler, Rossella, Valente, Mariarosaria, Volpi, Nila, Cassandrini, Denise, Santorelli, Filippo Maria
Publicado 2023