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  1. 1
    A novel PNPLA2 mutation causing total loss of RNA and protein expression in two NLSDM siblings with early onset but slowly progressive severe myopathy

    A novel PNPLA2 mutation causing total loss of RNA and protein expression in two NLSDM siblings with early onset but slowly progressive severe myopathy by Daniela Tavian, Lorenzo Maggi, Marina Mora, Lucia Morandi, Cinzia Bragato, Sara Missaglia

    Published 2021-01-01
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  2. 2
    Clinical expression of facioscapulohumeral muscular dystrophy in carriers of 1–3 D4Z4 reduced alleles: experience of the FSHD Italian National Registry

    Clinical expression of facioscapulohumeral muscular dystrophy in carriers of 1–3 D4Z4 reduced alleles: experience of the FSHD Italian National Registry by Antonio Di Muzio, Corrado Angelini, Tiziana Mongini, Liliana Vercelli, Lucia Morandi, Giovanni Antonini, Gabriele Siciliano, Lucio Santoro, Maurizio Moggio, Giacomo Brisca, Luisa Villa, Giuliano Tomelleri, Francesco Sera, Carmelo Rodolico, Lorenzo Maggi, Giulia Ricci, Angela Berardinelli, Elena Pegoraro, Sabrina Ravaglia, Chiara Fiorillo, Michelangelo Cao, Rossella Tupler, Ana Nikolic, Elisabetta Bucci, Monica Govi, Fabiano Mele, Marta Rossi, Lucia Ruggiero, Maria Chiara D'Amico, Maria Grazia D'Angelo, Claudio Bruno

    Published 2016-01-01
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