Hasil Pencarian - Gian Maria Fabrizi

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  1. 1
    Aberrant Splicing in <i>GJB1</i> and the Relevance of 5′ UTR in CMTX1 Pathogenesis

    Aberrant Splicing in <i>GJB1</i> and the Relevance of 5′ UTR in CMTX1 Pathogenesis oleh Federica Boso, Federica Taioli, Ilaria Cabrini, Tiziana Cavallaro, Gian Maria Fabrizi

    Diterbitkan 2020-12-01
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  2. 2
    Rare among Rare: Phenotypes of Uncommon CMT Genotypes

    Rare among Rare: Phenotypes of Uncommon CMT Genotypes oleh Luca Gentile, Massimo Russo, Federica Taioli, Moreno Ferrarini, M’Hammed Aguennouz, Carmelo Rodolico, Antonio Toscano, Gian Maria Fabrizi, Anna Mazzeo

    Diterbitkan 2021-12-01
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  3. 3
    Charcot-Marie-Tooth Type 2B: A New Phenotype Associated with a Novel <i>RAB7A</i> Mutation and Inhibited EGFR Degradation

    Charcot-Marie-Tooth Type 2B: A New Phenotype Associated with a Novel <i>RAB7A</i> Mutation and Inhibited EGFR Degradation oleh Paola Saveri, Maria De Luca, Veronica Nisi, Chiara Pisciotta, Roberta Romano, Giuseppe Piscosquito, Mary M. Reilly, James M. Polke, Tiziana Cavallaro, Gian Maria Fabrizi, Paola Fossa, Elena Cichero, Raffaella Lombardi, Giuseppe Lauria, Stefania Magri, Franco Taroni, Davide Pareyson, Cecilia Bucci

    Diterbitkan 2020-04-01
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  4. 4
    hATTR Pathology: Nerve Biopsy Results from Italian Referral Centers

    hATTR Pathology: Nerve Biopsy Results from Italian Referral Centers oleh Marco Luigetti, Marina Romozzi, Giulia Bisogni, Davide Cardellini, Tiziana Cavallaro, Andrea Di Paolantonio, Gian Maria Fabrizi, Silvia Fenu, Luca Gentile, Marina Grandis, Gianluca Marucci, Sara Massucco, Anna Mazzeo, Davide Pareyson, Angela Romano, Massimo Russo, Angelo Schenone, Matteo Tagliapietra, Stefano Tozza, Giuseppe Vita, Mario Sabatelli

    Diterbitkan 2020-10-01
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  5. 5
    Psychosocial burden and professional and social support in patients with hereditary transthyretin amyloidosis (ATTRv) and their relatives in Italy

    Psychosocial burden and professional and social support in patients with hereditary transthyretin amyloidosis (ATTRv) and their relatives in Italy oleh Lorenza Magliano, Laura Obici, Claudia Sforzini, Anna Mazzeo, Massimo Russo, Francesco Cappelli, Silvia Fenu, Marco Luigetti, Matteo Tagliapietra, Chiara Gemelli, Luca Leonardi, Stefano Tozza, Luca Guglielmo Pradotto, Giulia Citarelli, Alessandro Mauro, Fiore Manganelli, Giovanni Antonini, Marina Grandis, Gian Maria Fabrizi, Mario Sabatelli, Davide Pareyson, Federico Perfetto, Giampaolo Merlini, Giuseppe Vita, ATTRv Collaborators

    Diterbitkan 2021-04-01
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