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The nonsense mutation stop+4 model correlates with motor changes in Duchenne muscular dystrophy.
Brogna, Claudia; Coratti, Giorgia; Rossi, Rachele; Neri, Marcella; Messina, Sonia; Amico, Adele D'; Bruno, Claudio; Lucibello, Simona; Vita, Gianluca; Berardinelli, Angela; Magri, Francesca; Ricci, Federica; Pedemonte, Marina; Mongini, Tiziana; Battini, Roberta; Bello, Luca; Pegoraro, Elena; Baranello, Giovanni; Politano, Luisa; Comi, Giacomo P; Sansone, Valeria A; Albamonte, Emilio; Donati, Alice; Bertini, Enrico; Goemans, Nathalie; Previtali, Stefano; Bovis, Francesca; Pane, Marika; Ferlini, Alessandra; Mercuri, Eugenio.
Afiliação
  • Brogna C; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Largo Agostino Gemelli 8, Rome 00152, Italy.
  • Coratti G; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Largo Agostino Gemelli 8, Rome 00152, Italy.
  • Rossi R; Unit of Medical Genetics, Department of Medical Sciences, University of Ferrara, Ferrara, Italy.
  • Neri M; Unit of Medical Genetics, Department of Medical Sciences, University of Ferrara, Ferrara, Italy.
  • Messina S; Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy; Nemo SUD Clinical Center, University Hospital "G. Martino", Messina, Italy.
  • Amico A; Department of Neurosciences, Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Bruno C; Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
  • Lucibello S; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Largo Agostino Gemelli 8, Rome 00152, Italy.
  • Vita G; Nemo SUD Clinical Center, University Hospital "G. Martino", Messina, Italy.
  • Berardinelli A; Child Neurology and Psychiatry Unit, ''Casimiro Mondino'' Foundation, Pavia, Italy.
  • Magri F; Department of Pathophysiology and Transplantation, Fondazione IRCCS Ca' Grande Ospedale Maggiore Policlinico, Dino Ferrari Center, , University of Milan, Milan, Italy.
  • Ricci F; Neuromuscular Center, AOU Città della Salute e della Scienza, University of Torino, Italy.
  • Pedemonte M; Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
  • Mongini T; Neuromuscular Center, AOU Città della Salute e della Scienza, University of Torino, Italy.
  • Battini R; Department of Developmental Neuroscience, Stella Maris Institute, Pisa, Italy; Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.
  • Bello L; Department of Neurosciences, University of Padua, Padua, Italy.
  • Pegoraro E; Department of Neurosciences, University of Padua, Padua, Italy.
  • Baranello G; Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Politano L; Cardiomiologia e Genetica Medica, Dipartimento di Medicina Sperimentale, Università della Campania Luigi Vanvitelli, Napoli, Italy.
  • Comi GP; Department of Pathophysiology and Transplantation, Fondazione IRCCS Ca' Grande Ospedale Maggiore Policlinico, Dino Ferrari Center, , University of Milan, Milan, Italy.
  • Sansone VA; The NEMO Center in Milan, Neurorehabilitation Unit, University of Milan, ASST Niguarda Hospital, Milan, Italy.
  • Albamonte E; The NEMO Center in Milan, Neurorehabilitation Unit, University of Milan, ASST Niguarda Hospital, Milan, Italy.
  • Donati A; Metabolic Unit, A. Meyer Children's Hospital, Florence, Italy.
  • Bertini E; Department of Neurosciences, Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Goemans N; Department of Child Neurology, University Hospitals Leuven, Leuven, Belgium.
  • Previtali S; Neuromuscular Repair Unit, Inspe and Division of Neuroscience, IRCSS San Raffaele Scientific Institute, Milan, Italy.
  • Bovis F; Department of Health Sciences (DISSAL), University of Genova, Genoa, Italy.
  • Pane M; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Largo Agostino Gemelli 8, Rome 00152, Italy.
  • Ferlini A; Unit of Medical Genetics, Department of Medical Sciences, University of Ferrara, Ferrara, Italy.
  • Mercuri E; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Largo Agostino Gemelli 8, Rome 00152, Italy. Electronic address: eugeniomaria.mercuri@unicatt.it.
Neuromuscul Disord ; 31(6): 479-488, 2021 06.
Article em En | MEDLINE | ID: mdl-33773883
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Códon sem Sentido / Distrofia Muscular de Duchenne / Teste de Caminhada / Mutação Tipo de estudo: Clinical_trials / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Child / Child, preschool / Humans / Male País/Região como assunto: Europa Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Códon sem Sentido / Distrofia Muscular de Duchenne / Teste de Caminhada / Mutação Tipo de estudo: Clinical_trials / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Child / Child, preschool / Humans / Male País/Região como assunto: Europa Idioma: En Ano de publicação: 2021 Tipo de documento: Article