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Frequency and phenotypic spectrum of KMT2B dystonia in childhood: A single-center cohort study.
Carecchio, Miryam; Invernizzi, Federica; Gonzàlez-Latapi, Paulina; Panteghini, Celeste; Zorzi, Giovanna; Romito, Luigi; Leuzzi, Vincenzo; Galosi, Serena; Reale, Chiara; Zibordi, Federica; Joseph, Agnel P; Topf, Maya; Piano, Carla; Bentivoglio, Anna Rita; Girotti, Floriano; Morana, Paolo; Morana, Benedetto; Kurian, Manju A; Garavaglia, Barbara; Mencacci, Niccolò E; Lubbe, Steven J; Nardocci, Nardo.
Afiliação
  • Carecchio M; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Invernizzi F; Molecular Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Gonzàlez-Latapi P; Department of Neuroscience, University of Padua, Padua, Italy.
  • Panteghini C; Molecular Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Zorzi G; Ken and Ruth Davee Department of Neurology, Northwestern University, Feinberg School of Medicine, Chicago, Illinois, USA.
  • Romito L; Molecular Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Leuzzi V; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Galosi S; Department of Neurology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Reale C; Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy.
  • Zibordi F; Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy.
  • Joseph AP; Molecular Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Topf M; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Piano C; Institute of Structural and Molecular Biology, Crystallography/Department of Biological Sciences, Birkbeck College, University of London, London, United Kingdom.
  • Bentivoglio AR; Institute of Structural and Molecular Biology, Crystallography/Department of Biological Sciences, Birkbeck College, University of London, London, United Kingdom.
  • Girotti F; Policlinico Gemelli Foundation, Institute of Neurology, Catholic University, Rome, Italy.
  • Morana P; Policlinico Gemelli Foundation, Institute of Neurology, Catholic University, Rome, Italy.
  • Morana B; Department of Neurology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Kurian MA; Casa di Cura Morana, Marsala, Italy.
  • Garavaglia B; Casa di Cura Morana, Marsala, Italy.
  • Mencacci NE; Molecular Neurosciences, Developmental Neurosciences, UCL Institute of Child Health, London, United Kingdom.
  • Lubbe SJ; Department of Neurology, Great Ormond Street Hospital, London, United Kingdom.
  • Nardocci N; Molecular Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Mov Disord ; 34(10): 1516-1527, 2019 10.
Article em En | MEDLINE | ID: mdl-31216378
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Histona-Lisina N-Metiltransferase / Distúrbios Distônicos Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Aged / Child / Female / Humans / Male / Middle aged Idioma: En Revista: Mov Disord Assunto da revista: NEUROLOGIA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Itália País de publicação: Estados Unidos
Texto completo
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XML
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Histona-Lisina N-Metiltransferase / Distúrbios Distônicos Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Aged / Child / Female / Humans / Male / Middle aged Idioma: En Revista: Mov Disord Assunto da revista: NEUROLOGIA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Itália País de publicação: Estados Unidos