Výsledky vyhledávání - Cassandrini, Denise

Respiratory muscle involvement in HNRNPDL LGMD D3 muscular dystrophy: an extensive clinical description of the first Italian patient Autor Malfatti, Edoardo, Cassandrini, Denise, Rubegni, Anna, Sartorelli, Filippo M., Villanova, Marcello

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Alpha-sarcoglycanopathy presenting as myalgia and hyperCKemia in two adults with a long-term follow-up. Case reports Autor Dosi, Claudia, Rubegni, Anna, Cassandrini, Denise, Malandrini, Alessandro, Maggi, Lorenzo, Donati, M. Alice, Santorelli, Filippo M.

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Severe cardiomyopathy in a young patient with complete deficiency of adipose triglyceride lipase due to a novel mutation in PNPLA2 gene Autor Pasanisi, Maria Barbara, Missaglia, Sara, Cassandrini, Denise, Salerno, Franco, Farina, Stefania, Andreini, Daniele, Agostoni, Piergiuseppe, Morandi, Lucia, Mora, Marina, Tavian, Daniela

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Congenital myopathies: clinical phenotypes and new diagnostic tools Autor Cassandrini, Denise, Trovato, Rosanna, Rubegni, Anna, Lenzi, Sara, Fiorillo, Chiara, Baldacci, Jacopo, Minetti, Carlo, Astrea, Guja, Bruno, Claudio, Santorelli, Filippo M.

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

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

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Evaluation of Chromosome Microarray Analysis in a Large Cohort of Females with Autism Spectrum Disorders: A Single Center Italian Study Autor Calderoni, Sara, Ricca, Ivana, Balboni, Giulia, Cagiano, Romina, Cassandrini, Denise, Doccini, Stefano, Cosenza, Angela, Tolomeo, Deborah, Tancredi, Raffaella, Santorelli, Filippo Maria, Muratori, Filippo

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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... Autor 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

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

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

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Early Findings in Neonatal Cases of RYR1–Related Congenital Myopathies Autor 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

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Common and Novel TMEM70 Mutations in a Cohort of Italian Patients with Mitochondrial Encephalocardiomyopathy Autor Diodato, Daria, Invernizzi, Federica, Lamantea, Eleonora, Fagiolari, Gigliola, Parini, Rossella, Menni, Francesca, Parenti, Giancarlo, Bollani, Lina, Pasquini, Elisabetta, Donati, Maria A., Cassandrini, Denise, Santorelli, Filippo M., Haack, Tobias B., Prokisch, Holger, Ghezzi, Daniele, Lamperti, Costanza, Zeviani, Massimo

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

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

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

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

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

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