Search Results - Cassandrini, Denise

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  1. 1
    Respiratory muscle involvement in HNRNPDL LGMD D3 muscular dystrophy: an extensive clinical description of the first Italian patient

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

    Published 2020
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  2. 2
    Alpha-sarcoglycanopathy presenting as myalgia and hyperCKemia in two adults with a long-term follow-up. Case reports

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

    Published 2020
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  3. 3
    Severe cardiomyopathy in a young patient with complete deficiency of adipose triglyceride lipase due to a novel mutation in PNPLA2 gene

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

    Published 2016
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  4. 4
    Congenital myopathies: clinical phenotypes and new diagnostic tools

    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 2017
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  5. 5
    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

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

    Published 2016
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  6. 6
    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

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

    Published 2017
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  7. 7
    Evaluation of Chromosome Microarray Analysis in a Large Cohort of Females with Autism Spectrum Disorders: A Single Center Italian Study

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

    Published 2020
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  8. 8
    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 Mutation

    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 2015
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  9. 9
    MYH2 myopathy, a new case expands the clinical and pathological spectrum of the recessive form

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

    Published 2020
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  10. 10
    VARS2-linked mitochondrial encephalopathy: two case reports enlarging the clinical phenotype

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

    Published 2019
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  11. 11
    Early Findings in Neonatal Cases of RYR1–Related Congenital Myopathies

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

    Published 2021
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  12. 12
    Common and Novel TMEM70 Mutations in a Cohort of Italian Patients with Mitochondrial Encephalocardiomyopathy

    Common and Novel TMEM70 Mutations in a Cohort of Italian Patients with Mitochondrial Encephalocardiomyopathy by 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

    Published 2014
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  13. 13
    Neutral Lipid Storage Diseases: clinical/genetic features and natural history in a large cohort of Italian patients

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

    Published 2017
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  14. 14
    The Diagnostic Approach to Mitochondrial Disorders in Children in the Era of Next-Generation Sequencing: A 4-Year Cohort Study

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

    Published 2021
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  15. 15
    Next-generation sequencing approach to hyperCKemia: A 2-year cohort study

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

    Published 2019
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  16. 16
    Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study

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

    Published 2022
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  17. 17
    Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study

    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 2018
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