Spinal muscular atrophy
D'Amico, Adele, Mercuri, Eugenio, Tiziano, Francesco D, Bertini, Enrico
Published in Orphanet journal of rare diseases (02.11.2011)
Published in Orphanet journal of rare diseases (02.11.2011)
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Journal Article
Diagnostic journey in Spinal Muscular Atrophy: Is it still an odyssey?
Pera, Maria Carmela, Coratti, Giorgia, Berti, Beatrice, D'Amico, Adele, Sframeli, Maria, Albamonte, Emilio, de Sanctis, Roberto, Messina, Sonia, Catteruccia, Michela, Brigati, Giorgia, Antonaci, Laura, Lucibello, Simona, Bruno, Claudio, Sansone, Valeria A, Bertini, Enrico, Tiziano, Danilo, Pane, Marika, Mercuri, Eugenio
Published in PloS one (23.03.2020)
Published in PloS one (23.03.2020)
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Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53
Brogna, Claudia, Coratti, Giorgia, Pane, Marika, Ricotti, Valeria, Messina, Sonia, D'Amico, Adele, Bruno, Claudio, Vita, Gianluca, Berardinelli, Angela, Mazzone, Elena, Magri, Francesca, Ricci, Federica, Mongini, Tiziana, Battini, Roberta, Bello, Luca, Pegoraro, Elena, Baranello, Giovanni, Previtali, Stefano C, Politano, Luisa, Comi, Giacomo P, Sansone, Valeria A, Donati, Alice, Bertini, Enrico, Muntoni, Francesco, Goemans, Nathalie, Mercuri, Eugenio
Published in PloS one (25.06.2019)
Published in PloS one (25.06.2019)
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Journal Article
Spinal muscular atrophy: state of the art and new therapeutic strategies
Messina, Sonia, Sframeli, Maria, Maggi, Lorenzo, D’Amico, Adele, Bruno, Claudio, Comi, Giacomo, Mercuri, Eugenio
Published in Neurological sciences (01.12.2022)
Published in Neurological sciences (01.12.2022)
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Upper limb function in Duchenne muscular dystrophy: 24 month longitudinal data
Pane, Marika, Coratti, Giorgia, Brogna, Claudia, Mazzone, Elena Stacy, Mayhew, Anna, Fanelli, Lavinia, Messina, Sonia, D'Amico, Adele, Catteruccia, Michela, Scutifero, Marianna, Frosini, Silvia, Lanzillotta, Valentina, Colia, Giulia, Cavallaro, Filippo, Rolle, Enrica, De Sanctis, Roberto, Forcina, Nicola, Petillo, Roberta, Barp, Andrea, Gardani, Alice, Pini, Antonella, Monaco, Giulia, D'Angelo, Maria Grazia, Zanin, Riccardo, Vita, Gian Luca, Bruno, Claudio, Mongini, Tiziana, Ricci, Federica, Pegoraro, Elena, Bello, Luca, Berardinelli, Angela, Battini, Roberta, Sansone, Valeria, Albamonte, Emilio, Baranello, Giovanni, Bertini, Enrico, Politano, Luisa, Sormani, Maria Pia, Mercuri, Eugenio
Published in PloS one (20.06.2018)
Published in PloS one (20.06.2018)
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Journal Article
Implicit learning deficit in children with Duchenne muscular dystrophy: Evidence for a cerebellar cognitive impairment?
Vicari, Stefano, Piccini, Giorgia, Mercuri, Eugenio, Battini, Roberta, Chieffo, Daniela, Bulgheroni, Sara, Pecini, Chiara, Lucibello, Simona, Lenzi, Sara, Moriconi, Federica, Pane, Marika, D'Amico, Adele, Astrea, Guja, Baranello, Giovanni, Riva, Daria, Cioni, Giovanni, Alfieri, Paolo
Published in PloS one (16.01.2018)
Published in PloS one (16.01.2018)
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Journal Article
Communicative development inventory in type 1 and presymptomatic infants with spinal muscular atrophy: a cohort study
Buchignani, Bianca, Cicala, Gianpaolo, Cumbo, Francesca, Ricci, Martina, Capasso, Anna, Ticci, Chiara, Mazzanti, Sara, Brolatti, Noemi, Tosi, Michele, Dosi, Claudia, Antonaci, Laura, Coratti, Giorgia, Pera, Maria Carmela, Leone, Daniela, Palermo, Concetta, Berti, Beatrice, Frongia, Anna Lia, Sacchini, Michele, Bruno, Claudio, Masson, Riccardo, D’Amico, Adele, Battini, Roberta, Pane, Marika, Mercuri, Eugenio
Published in Archives of disease in childhood (01.05.2024)
Published in Archives of disease in childhood (01.05.2024)
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Journal Article
Revised North Star Ambulatory Assessment for Young Boys with Duchenne Muscular Dystrophy
Mercuri, Eugenio, Coratti, Giorgia, Messina, Sonia, Ricotti, Valeria, Baranello, Giovanni, D'Amico, Adele, Pera, Maria Carmela, Albamonte, Emilio, Sivo, Serena, Mazzone, Elena Stacy, Arnoldi, Maria Teresa, Fanelli, Lavinia, De Sanctis, Roberto, Romeo, Domenico M, Vita, Gian Luca, Battini, Roberta, Bertini, Enrico, Muntoni, Francesco, Pane, Marika
Published in PloS one (05.08.2016)
Published in PloS one (05.08.2016)
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Journal Article
24 month longitudinal data in ambulant boys with Duchenne muscular dystrophy
Mazzone, Elena Stacy, Pane, Marika, Sormani, Maria Pia, Scalise, Roberta, Berardinelli, Angela, Messina, Sonia, Torrente, Yvan, D'Amico, Adele, Doglio, Luca, Viggiano, Emanuela, D'Ambrosio, Paola, Cavallaro, Filippo, Frosini, Silvia, Bello, Luca, Bonfiglio, Serena, De Sanctis, Roberto, Rolle, Enrica, Bianco, Flaviana, Magri, Francesca, Rossi, Francesca, Vasco, Gessica, Vita, Gianluca, Motta, Maria Chiara, Donati, Maria Alice, Sacchini, Michele, Mongini, Tiziana, Pini, Antonella, Battini, Roberta, Pegoraro, Elena, Previtali, Stefano, Napolitano, Sara, Bruno, Claudio, Politano, Luisa, Comi, Giacomo Pietro, Bertini, Enrico, Mercuri, Eugenio
Published in PloS one (11.01.2013)
Published in PloS one (11.01.2013)
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Hepatobiliary disease in XLMTM: a common comorbidity with potential impact on treatment strategies
D'Amico, Adele, Longo, Antonella, Fattori, Fabiana, Tosi, Michele, Bosco, Luca, Chiarini Testa, Maria Beatrice, Paglietti, Maria Giovanna, Cherchi, Claudio, Carlesi, Adelina, Mizzoni, Irene, Bertini, Enrico
Published in Orphanet journal of rare diseases (12.10.2021)
Published in Orphanet journal of rare diseases (12.10.2021)
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MRI in sarcoglycanopathies: a large international cohort study
Tasca, Giorgio, Monforte, Mauro, Díaz-Manera, Jordi, Brisca, Giacomo, Semplicini, Claudio, D’Amico, Adele, Fattori, Fabiana, Pichiecchio, Anna, Berardinelli, Angela, Maggi, Lorenzo, Maccagnano, Elio, Løkken, Nicoline, Marini-Bettolo, Chiara, Munell, Francina, Sanchez, Angel, Alshaikh, Nahla, Voermans, Nicol C, Dastgir, Jahannaz, Vlodavets, Dmitry, Haberlová, Jana, Magnano, Gianmichele, Walter, Maggie C, Quijano-Roy, Susana, Carlier, Robert-Yves, van Engelen, Baziel G M, Vissing, John, Straub, Volker, Bönnemann, Carsten G, Mercuri, Eugenio, Muntoni, Francesco, Pegoraro, Elena, Bertini, Enrico, Udd, Bjarne, Ricci, Enzo, Bruno, Claudio
Published in Journal of neurology, neurosurgery and psychiatry (01.01.2018)
Published in Journal of neurology, neurosurgery and psychiatry (01.01.2018)
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Early Neurodevelopmental Findings Predict School Age Cognitive Abilities in Duchenne Muscular Dystrophy: A Longitudinal Study
Chieffo, Daniela, Brogna, Claudia, Berardinelli, Angela, D'Angelo, Grazia, Mallardi, Maria, D'Amico, Adele, Alfieri, Paolo, Mercuri, Eugenio, Pane, Marika
Published in PloS one (14.08.2015)
Published in PloS one (14.08.2015)
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Growth patterns in children with spinal muscular atrophy
De Amicis, Ramona, Baranello, Giovanni, Foppiani, Andrea, Leone, Alessandro, Battezzati, Alberto, Bedogni, Giorgio, Ravella, Simone, Giaquinto, Ester, Mastella, Chiara, Agosto, Caterina, Bertini, Enrico, D'Amico, Adele, Pedemonte, Marina, Bruno, Claudio, Wells, Jonathan C, Fewtrell, Mary, Bertoli, Simona
Published in Orphanet journal of rare diseases (04.09.2021)
Published in Orphanet journal of rare diseases (04.09.2021)
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Duchenne Dilated Cardiomyopathy: Cardiac Management from Prevention to Advanced Cardiovascular Therapies
Adorisio, Rachele, Mencarelli, Erica, Cantarutti, Nicoletta, Calvieri, Camilla, Amato, Liliana, Cicenia, Marianna, Silvetti, Massimo, D’Amico, Adele, Grandinetti, Maria, Drago, Fabrizio, Amodeo, Antonio
Published in Journal of clinical medicine (01.10.2020)
Published in Journal of clinical medicine (01.10.2020)
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Italian recommendations for diagnosis and management of congenital myasthenic syndromes
Maggi, Lorenzo, Bernasconi, Pia, D’Amico, Adele, Brugnoni, Raffaella, Fiorillo, Chiara, Garibaldi, Matteo, Astrea, Guja, Bruno, Claudio, Santorelli, Filippo Maria, Liguori, Rocco, Antonini, Giovanni, Evoli, Amelia, Bertini, Enrico, Rodolico, Carmelo, Mantegazza, Renato
Published in Neurological sciences (01.03.2019)
Published in Neurological sciences (01.03.2019)
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The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes
Travaglini, Lorena, Aiello, Chiara, Stregapede, Fabrizia, D’Amico, Adele, Alesi, Viola, Ciolfi, Andrea, Bruselles, Alessandro, Catteruccia, Michela, Pizzi, Simone, Zanni, Ginevra, Loddo, Sara, Barresi, Sabina, Vasco, Gessica, Tartaglia, Marco, Bertini, Enrico, Nicita, Francesco
Published in Neurogenetics (01.05.2018)
Published in Neurogenetics (01.05.2018)
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Natural history of pulmonary function in collagen VI-related myopathies
FOLEY, A. Reghan, QUIJANO-ROY, Susana, NORTH, Kathryn, RYAN, Monique M, RICHARD, Pascale, ALLAMAND, Valérie, HICKS, Debbie, LAMANDE, Shireen, YING HU, GUALANDI, Francesca, SUNGYOUNG AUH, MUNTONI, Francesco, COLLINS, James, BÖNNEMANN, Carsten G, STRAUB, Volker, MCCALLUM, Michelle, DECONINCK, Nicolas, MERCURI, Eugenio, PANE, Marika, D'AMICO, Adele, BERTINI, Enrico
Published in Brain (London, England : 1878) (01.12.2013)
Published in Brain (London, England : 1878) (01.12.2013)
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De Novo GRID2 Variant as a Cause of Ataxia with Oculomotor Apraxia and Alpha-Fetoprotein Elevation
Sartorelli, Jacopo, Travaglini, Lorena, Colona, Vito Luigi, Casali, Carlo, Cumbo, Francesca, D'Amico, Adele, Longo, Daniela, Novelli, Antonio, Vasco, Gessica, Bertini, Enrico, Nicita, Francesco
Published in Cerebellum (London, England) (23.09.2024)
Published in Cerebellum (London, England) (23.09.2024)
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Proteomics profiling and machine learning in nusinersen-treated patients with spinal muscular atrophy
Panicucci, Chiara, Sahin, Eray, Bartolucci, Martina, Casalini, Sara, Brolatti, Noemi, Pedemonte, Marina, Baratto, Serena, Pintus, Sara, Principi, Elisa, D’Amico, Adele, Pane, Marika, Sframeli, Marina, Messina, Sonia, Albamonte, Emilio, Sansone, Valeria A., Mercuri, Eugenio, Bertini, Enrico, Sezerman, Ugur, Petretto, Andrea, Bruno, Claudio
Published in Cellular and molecular life sciences : CMLS (01.12.2024)
Published in Cellular and molecular life sciences : CMLS (01.12.2024)
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Novel Splicing Mutation in MTM1 Leading to Two Abnormal Transcripts Causes Severe Myotubular Myopathy
Bosco, Luca, Leone, Daniela, Costa Comellas, Laura, Monforte, Mauro, Pane, Marika, Mercuri, Eugenio, Bertini, Enrico, D'Amico, Adele, Fattori, Fabiana
Published in International journal of molecular sciences (07.09.2022)
Published in International journal of molecular sciences (07.09.2022)
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