Hasil Pencarian - Roberto Massa

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  1. 1
    Validation of Motor Outcome Measures in Myotonic Dystrophy Type 2

    Validation of Motor Outcome Measures in Myotonic Dystrophy Type 2 oleh Federica Montagnese, Emanuele Rastelli, Nina Khizanishvili, Nina Khizanishvili, Roberto Massa, Kristina Stahl, Benedikt Schoser

    Diterbitkan 2020-04-01
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  2. 2
    Association of HLA-DQB1*05:02 and DRB1*16 Alleles with Late-Onset, Nonthymomatous, AChR-Ab-Positive Myasthenia Gravis

    Association of HLA-DQB1*05:02 and DRB1*16 Alleles with Late-Onset, Nonthymomatous, AChR-Ab-Positive Myasthenia Gravis oleh Manuela Testi, Chiara Terracciano, Annalisa Guagnano, Giuseppe Testa, Girolama A. Marfia, Eugenio Pompeo, Marco Andreani, Roberto Massa

    Diterbitkan 2012-01-01
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  3. 3
    <i>In Cis</i> Effect of <i>DMPK</i> Expanded Alleles in Myotonic Dystrophy Type 1 Patients Carrying Variant Repeats at 5′ and 3′ Ends of the CTG Array

    <i>In Cis</i> Effect of <i>DMPK</i> Expanded Alleles in Myotonic Dystrophy Type 1 Patients Carrying Variant Repeats at 5′ and 3′ Ends of the CTG Array oleh Virginia Veronica Visconti, Elisa Macrì, Maria Rosaria D’Apice, Federica Centofanti, Roberto Massa, Giuseppe Novelli, Annalisa Botta

    Diterbitkan 2023-06-01
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  4. 4
    Generation and Neuronal Differentiation of hiPSCs From Patients With Myotonic Dystrophy Type 2

    Generation and Neuronal Differentiation of hiPSCs From Patients With Myotonic Dystrophy Type 2 oleh Paola Spitalieri, Rosa V. Talarico, Michela Murdocca, Luana Fontana, Marzia Marcaurelio, Elena Campione, Roberto Massa, Giovanni Meola, Annalucia Serafino, Giuseppe Novelli, Giuseppe Novelli, Federica Sangiuolo, Annalisa Botta

    Diterbitkan 2018-07-01
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  5. 5
    Comprehensive Cardiovascular Management of Myotonic Dystrophy Type 1 Patients: A Report from the Italian Neuro-Cardiology Network

    Comprehensive Cardiovascular Management of Myotonic Dystrophy Type 1 Patients: A Report from the Italian Neuro-Cardiology Network oleh Vincenzo Russo, Giovanni Antonini, Roberto Massa, Carlo Casali, Alfredo Mauriello, Anna Maria Martino, Roberto Marconi, Matteo Garibaldi, Pasquale Franciosa, Massimo Zecchin, Carlo Gaudio, Antonello D’Andrea, Stefano Strano

    Diterbitkan 2024-02-01
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  6. 6
    Characterization of full-length CNBP expanded alleles in myotonic dystrophy type 2 patients by Cas9-mediated enrichment and nanopore sequencing

    Characterization of full-length CNBP expanded alleles in myotonic dystrophy type 2 patients by Cas9-mediated enrichment and nanopore sequencing oleh Massimiliano Alfano, Luca De Antoni, Federica Centofanti, Virginia Veronica Visconti, Simone Maestri, Chiara Degli Esposti, Roberto Massa, Maria Rosaria D'Apice, Giuseppe Novelli, Massimo Delledonne, Annalisa Botta, Marzia Rossato

    Diterbitkan 2022-08-01
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  7. 7
    Trimetazidine Improves Mitochondrial Dysfunction in SOD1<sup>G93A</sup> Cellular Models of Amyotrophic Lateral Sclerosis through Autophagy Activation

    Trimetazidine Improves Mitochondrial Dysfunction in SOD1<sup>G93A</sup> Cellular Models of Amyotrophic Lateral Sclerosis through Autophagy Activation oleh Illari Salvatori, Valentina Nesci, Alida Spalloni, Veronica Marabitti, Maurizio Muzzi, Henri Zenuni, Silvia Scaricamazza, Marco Rosina, Gianmarco Fenili, Mariangela Goglia, Laura Boffa, Roberto Massa, Sandra Moreno, Nicola Biagio Mercuri, Francesca Nazio, Patrizia Longone, Alberto Ferri, Cristiana Valle

    Diterbitkan 2024-03-01
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  8. 8
    A 14-Year Italian Experience in DM2 Genetic Testing: Frequency and Distribution of Normal and Premutated CNBP Alleles

    A 14-Year Italian Experience in DM2 Genetic Testing: Frequency and Distribution of Normal and Premutated CNBP Alleles oleh Annalisa Botta, Virginia Veronica Visconti, Luana Fontana, Paola Bisceglia, Paola Bisceglia, Mario Bengala, Roberto Massa, Ilaria Bagni, Rosanna Cardani, Federica Sangiuolo, Federica Sangiuolo, Giovanni Meola, Giovanni Meola, Giovanni Antonini, Antonio Petrucci, Elena Pegoraro, Maria Rosaria D’Apice, Giuseppe Novelli, Giuseppe Novelli

    Diterbitkan 2021-06-01
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  9. 9
    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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  10. 10
    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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