Výsledky vyhledávání - Giuseppina Di Fruscio

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  1. 1
    MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples

    MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples Autor Marco Savarese, Giuseppina Di Fruscio, Margherita Mutarelli, Annalaura Torella, Francesca Magri, Filippo M. Santorelli, Giacomo P. Comi, Claudio Bruno, Vincenzo Nigro

    Vydáno 2014
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  2. 2
    Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway

    Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway Autor Giuseppina Di Fruscio, Angela Schulz, Rossella De Cegli, Marco Savarese, Margherita Mutarelli, Giancarlo Parenti, Sandro Banfi, Thomas Braulke, Vincenzo Nigro, Andrea Ballabio

    Vydáno 2015
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  3. 3
    Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations

    Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations Autor Marco Savarese, Giuseppina Di Fruscio, Giorgio Tasca, Lucia Ruggiero, Sandra Janssens, Jan De Bleecker, Marc Delpech, Olimpia Musumeci, António Toscano, C. Angelini, Sabrina Sacconi, Lucio Santoro, Enzo Ricci, Kathleen Claes, Luisa Politano, Vincenzo Nigro

    Vydáno 2015
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  4. 4
    Interpreting Genetic Variants in Titin in Patients With Muscle Disorders

    Interpreting Genetic Variants in Titin in Patients With Muscle Disorders Autor Marco Savarese, Lorenzo Maggi, Anna Vihola, Per Harald Jonson, Giorgio Tasca, Lucia Ruggiero, Luca Bello, Francesca Magri, Teresa Giugliano, Annalaura Torella, Anni Evilä, Giuseppina Di Fruscio, Olivier Vanakker, Sara Gibertini, Liliana Vercelli, Alessandra Ruggieri, Carlo Antozzi, H. Luque, Sandra Janssens, Maria Barbara Pasanisi, Chiara Fiorillo, Monika Raimondi, Manuela Ergoli, Luisa Politano, Claudio Bruno, Anna Rubegni, Marika Pane, Filippo M. Santorelli, Carlo Minetti, C. Angelini, Jan De Bleecker, Maurizio Moggio, Tiziana Mongini, Giacomo P. Comi, Lucio Santoro, Eugenio Mercuri, Elena Pegoraro, Marina Mora, Peter Hackman, Bjarne Udd, Vincenzo Nigro

    Vydáno 2018
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  5. 5
    The genetic basis of undiagnosed muscular dystrophies and myopathies

    The genetic basis of undiagnosed muscular dystrophies and myopathies Autor Marco Savarese, Giuseppina Di Fruscio, Annalaura Torella, Chiara Fiorillo, Francesca Magri, Francesco Mari, Lucia Ruggiero, Giulia Ricci, Guja Astrea, Luigia Passamano, Alessandra Ruggieri, Dario Ronchi, Giorgio Tasca, Adele D’Amico, Sandra Janssens, Olimpia Farina, Margherita Mutarelli, Veer Singh Marwah, Arcomaria Garofalo, Teresa Giugliano, Simone Sanpaolo, Francesca Del Vecchio Blanco, Gaia Esposito, Giulio Piluso, Paola D’Ambrosio, Roberta Petillo, Olimpia Musumeci, Carmelo Rodolico, Sonia Messina, Anni Evilä, Peter Hackman, Massimiliano Filosto, Giuseppe Di Iorio, Gabriele Siciliano, Marina Mora, Lorenzo Maggi, Carlo Minetti, Sabrina Sacconi, Lucio Santoro, Kathleen Claes, Liliana Vercelli, Tiziana Mongini, Enzo Ricci, Francesca Gualandi, Rossella Tupler, Jan De Bleecker, Bjarne Udd, António Toscano, Maurizio Moggio, Elena Pegoraro, Enrico Bertini, Eugenio Mercuri, C. Angelini, Filippo M. Santorelli, Luisa Politano, Claudio Bruno, Giacomo P. Comi, Vincenzo Nigro

    Vydáno 2016
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