Hasil Pencarian - Denise Cassandrini

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  1. 1
    Congenital myopathies: clinical phenotypes and new diagnostic tools

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

    Diterbitkan 2017-11-01
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  2. 2
    The D355V Mutation Decreases EGR2 Binding to an Element within the Cx32 Promoter

    The D355V Mutation Decreases EGR2 Binding to an Element within the Cx32 Promoter oleh Marco Musso, Piercesare Balestra, Emilia Bellone, Denise Cassandrini, Emilio Di Maria, Laura Lamba Doria, Marina Grandis, GianLuigi Mancardi, Angelo Schenone, Giovanni Levi, Franco Ajmar, Paola Mandich

    Diterbitkan 2001-08-01
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  3. 3
    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 oleh Roberta Telese, Serena Pagliarani, Alberto Lerario, Patrizia Ciscato, Gigliola Fagiolari, Denise Cassandrini, Nadia Grimoldi, Giorgio Conte, Claudia Cinnante, Filippo M. Santorelli, Giacomo P. Comi, Monica Sciacco, Lorenzo Peverelli

    Diterbitkan 2020-09-01
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  4. 4
    VARS2-linked mitochondrial encephalopathy: two case reports enlarging the clinical phenotype

    VARS2-linked mitochondrial encephalopathy: two case reports enlarging the clinical phenotype oleh Chiara Begliuomini, Giorgio Magli, Maja Di Rocco, Filippo M. Santorelli, Denise Cassandrini, Claudia Nesti, Federica Deodato, Daria Diodato, Susanna Casellato, Delia M. Simula, Veronica Dessì, Anna Eusebi, Alessandra Carta, Stefano Sotgiu

    Diterbitkan 2019-05-01
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  5. 5
    <i>CCDC78</i>: Unveiling the Function of a Novel Gene Associated with Hereditary Myopathy

    <i>CCDC78</i>: Unveiling the Function of a Novel Gene Associated with Hereditary Myopathy oleh Diego Lopergolo, Gian Nicola Gallus, Giuseppe Pieraccini, Francesca Boscaro, Gianna Berti, Giovanni Serni, Nila Volpi, Patrizia Formichi, Silvia Bianchi, Denise Cassandrini, Vincenzo Sorrentino, Daniela Rossi, Filippo Maria Santorelli, Nicola De Stefano, Alessandro Malandrini

    Diterbitkan 2024-09-01
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  6. 6
    Early Findings in Neonatal Cases of RYR1–Related Congenital Myopathies

    Early Findings in Neonatal Cases of RYR1–Related Congenital Myopathies oleh Eleonora Mauri, Daniela Piga, Alessandra Govoni, Roberta Brusa, Serena Pagliarani, Michela Ripolone, Robertino Dilena, Claudia Cinnante, Monica Sciacco, Denise Cassandrini, Vincenzo Nigro, Nereo Bresolin, Nereo Bresolin, Stefania Corti, Stefania Corti, Giacomo P. Comi, Giacomo P. Comi, Francesca Magri

    Diterbitkan 2021-06-01
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  7. 7
    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 oleh Elena Maria Pennisi, Marcello Arca, Enrico Bertini, Claudio Bruno, Denise Cassandrini, Adele D’amico, Matteo Garibaldi, Francesca Gragnani, Lorenzo Maggi, Roberto Massa, Sara Missaglia, Lucia Morandi, Olimpia Musumeci, Elena Pegoraro, Emanuele Rastelli, Filippo Maria Santorelli, Elisabetta Tasca, Daniela Tavian, Antonio Toscano, Corrado Angelini, The Italian NLSD Group

    Diterbitkan 2017-05-01
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  8. 8
    A Schematic Approach to Defining the Prevalence of COL VI Variants in Five Years of Next-Generation Sequencing

    A Schematic Approach to Defining the Prevalence of COL VI Variants in Five Years of Next-Generation Sequencing oleh Gemma Marinella, Guja Astrea, Bianca Buchignani, Denise Cassandrini, Stefano Doccini, Massimiliano Filosto, Daniele Galatolo, Salvatore Gallone, Fabio Giannini, Diego Lopergolo, Maria Antonietta Maioli, Francesca Magri, Alessandro Malandrini, Paola Mandich, Francesco Mari, Roberto Massa, Sabrina Mata, Federico Melani, Maurizio Moggio, Tiziana E. Mongini, Rosa Pasquariello, Elena Pegoraro, Federica Ricci, Giulia Ricci, Carmelo Rodolico, Anna Rubegni, Gabriele Siciliano, Martina Sperti, Chiara Ticci, Paola Tonin, Filippo M. Santorelli, Roberta Battini

    Diterbitkan 2022-11-01
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  9. 9
    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 oleh Aurora Fusto, Denise Cassandrini, Chiara Fiorillo, Valentina Codemo, Guja Astrea, Adele D’Amico, Lorenzo Maggi, Francesca Magri, Marika Pane, Giorgio Tasca, Daniele Sabbatini, Luca Bello, Roberta Battini, Pia Bernasconi, Fabiana Fattori, Enrico Silvio Bertini, Giacomo Comi, Sonia Messina, Tiziana Mongini, Isabella Moroni, Chiara Panicucci, Angela Berardinelli, Alice Donati, Vincenzo Nigro, Antonella Pini, Melania Giannotta, Claudia Dosi, Enzo Ricci, Eugenio Mercuri, Giovanni Minervini, Silvio Tosatto, Filippo Santorelli, Claudio Bruno, Elena Pegoraro

    Diterbitkan 2022-04-01
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  10. 10
    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 oleh Guja Astrea, Alessandro Romano, Corrado Angelini, Carlo Giuseppe Antozzi, Rita Barresi, Roberta Battini, Carla Battisti, Enrico Bertini, Claudio Bruno, Denise Cassandrini, Marina Fanin, Fabiana Fattori, Chiara Fiorillo, Renzo Guerrini, Lorenzo Maggi, Eugenio Mercuri, Federica Morani, Marina Mora, Francesca Moro, Ilaria Pezzini, Esther Picillo, Michele Pinelli, Luisa Politano, Anna Rubegni, Walter Sanseverino, Marco Savarese, Pasquale Striano, Annalaura Torella, Carlo Pietro Trevisan, Rosanna Trovato, Irina Zaraieva, Francesco Muntoni, Vincenzo Nigro, Adele D’Amico, Filippo M. Santorelli, the Italian CMD Network

    Diterbitkan 2018-09-01
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