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<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 by Virginia Veronica Visconti, Elisa Macrì, Maria Rosaria D’Apice, Federica Centofanti, Roberto Massa, Giuseppe Novelli, Annalisa Botta
Published 2023-06-01
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Clinical and functional characterization of COL2A1 p.Gly444Ser variant: From a fetal phenotype to a previously undisclosed postnatal phenotype by Enrica Marchionni, Maria Rosaria D'Apice, Viviana Lupo, Giovanna Lattanzi, Elisabetta Mattioli, Gina Lisignoli, Elena Gabusi, Gerardo Pepe, Manuela Helmer Citterich, Elena Campione, Anna Maria Nardone, Paola Spitalieri, Noemi Pucci, Dario Cocciadiferro, Eliseo Picchi, Francesco Garaci, Antonio Novelli, Giuseppe Novelli
Published 2023-12-01
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Cytokine Profile in Striated Muscle Laminopathies: New Promising Biomarkers for Disease Prediction by Cristina Cappelletti, Irene Tramacere, Paola Cavalcante, Elisa Schena, Luisa Politano, Nicola Carboni, Alessandra Gambineri, Adele D’Amico, Lucia Ruggiero, Giulia Ricci, Gabriele Siciliano, Giuseppe Boriani, Tiziana Enrica Mongini, Liliana Vercelli, Elena Biagini, Matteo Ziacchi, Maria Rosaria D’Apice, Giovanna Lattanzi, Renato Mantegazza, Lorenzo Maggi, Pia Bernasconi
Published 2020-06-01
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