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Clinical utility of genetic testing in the early diagnosis of Danon disease mimicking hypertrophic cardiomyopathy: a case report by Valeria Novelli, Antonio Bisignani, Gemma Pelargonio, Guido Primiano, Maria Lucia Narducci, Vincenzo Palmieri, Francesco Danilo Tiziano, Paolo Zeppilli, Serenella Servidei, Filippo Crea, Maurizio Genuardi
Published 2020-04-01
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Alternating Hemiplegia of Childhood: Genotype–Phenotype Correlations in a Cohort of 39 Italian Patients by Ramona Cordani, Michela Stagnaro, Livia Pisciotta, Livia Pisciotta, Francesco Danilo Tiziano, Maria Grazia Calevo, Lino Nobili, Lino Nobili, I.B.AHC Consortium, Elisa De Grandis, Elisa De Grandis
Published 2021-04-01
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Type I SMA “new natural history”: long‐term data in nusinersen‐treated patients by Marika Pane, Giorgia Coratti, Valeria A. Sansone, Sonia Messina, Michela Catteruccia, Claudio Bruno, Maria Sframeli, Emilio Albamonte, Marina Pedemonte, Adele D’Amico, Chiara Bravetti, Beatrice Berti, Concetta Palermo, Daniela Leone, Giorgia Brigati, Paola Tacchetti, Francesca Salmin, Roberto De Sanctis, Simona Lucibello, Maria Carmela Pera, Marco Piastra, Orazio Genovese, Enrico Bertini, Gianluca Vita, Francesco Danilo Tiziano, Eugenio Mercuri, the Italian EAP Working Group
Published 2021-03-01
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Distribution of the C9orf72 hexanucleotide repeat expansion in healthy subjects: a multicenter study promoted by the Italian IRCCS network of neuroscience and neurorehabilitation by Emiliano Giardina, Emiliano Giardina, Paola Mandich, Paola Mandich, Roberta Ghidoni, Nicola Ticozzi, Nicola Ticozzi, Giacomina Rossi, Chiara Fenoglio, Chiara Fenoglio, Francesco Danilo Tiziano, Francesco Danilo Tiziano, Federica Esposito, Federica Esposito, Sabina Capellari, Sabina Capellari, Benedetta Nacmias, Benedetta Nacmias, Rossana Mineri, Rosa Campopiano, Luana Di Pilla, Federica Sammarone, Stefania Zampatti, Cristina Peconi, Flavio De Angelis, Flavio De Angelis, Ilaria Palmieri, Caterina Galandra, Eleonora Nicodemo, Paola Origone, Paola Origone, Fabio Gotta, Clarissa Ponti, Clarissa Ponti, Roland Nicsanu, Luisa Benussi, Silvia Peverelli, Antonia Ratti, Antonia Ratti, Martina Ricci, Giuseppe Di Fede, Stefania Magri, Maria Serpente, Serena Lattante, Serena Lattante, Teuta Domi, Paola Carrera, Elisa Saltimbanco, Silvia Bagnoli, Silvia Bagnoli, Assunta Ingannato, Assunta Ingannato, Alberto Albanese, Fabrizio Tagliavini, Raffaele Lodi, Carlo Caltagirone, Stefano Gambardella, Stefano Gambardella, Enza Maria Valente, Enza Maria Valente, Vincenzo Silani, Vincenzo Silani
Published 2024-01-01
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SMA-miRs (miR-181a-5p, -324-5p, and -451a) are overexpressed in spinal muscular atrophy skeletal muscle and serum samples by Emanuela Abiusi, Paola Infante, Cinzia Cagnoli, Ludovica Lospinoso Severini, Marika Pane, Giorgia Coratti, Maria Carmela Pera, Adele D'Amico, Federica Diano, Agnese Novelli, Serena Spartano, Stefania Fiori, Giovanni Baranello, Isabella Moroni, Marina Mora, Maria Barbara Pasanisi, Krizia Pocino, Loredana Le Pera, Davide D'Amico, Lorena Travaglini, Francesco Ria, Claudio Bruno, Denise Locatelli, Enrico Silvio Bertini, Lucia Ovidia Morandi, Eugenio Mercuri, Lucia Di Marcotullio, Francesco Danilo Tiziano
Published 2021-09-01
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