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Co-occurring SYNJ1 and SHANK3 variants in a girl with intellectual disability, early-onset parkinsonism and catatonic episodes.
Galosi, S; Martinelli, S; Pannone, L; Terrinoni, A; Venditti, M; Pizzi, S; Ciolfi, A; Chillemi, G; Gigliotti, F; Cesario, S; Tartaglia, M; Leuzzi, V.
Afiliação
  • Galosi S; Department of Neuroscience, Sapienza University of Rome, Rome, Italy.
  • Martinelli S; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome, Italy.
  • Pannone L; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome, Italy; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.
  • Terrinoni A; Department of Neuroscience, Sapienza University of Rome, Rome, Italy.
  • Venditti M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.
  • Pizzi S; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.
  • Ciolfi A; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.
  • Chillemi G; DIBAF, Università Della Tuscia, Viterbo, Italy.
  • Gigliotti F; Department of Neuroscience, Sapienza University of Rome, Rome, Italy.
  • Cesario S; Department of Neuroscience, Sapienza University of Rome, Rome, Italy.
  • Tartaglia M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.
  • Leuzzi V; Department of Neuroscience, Sapienza University of Rome, Rome, Italy. Electronic address: vincenzo.leuzzi@uniroma1.it.
Parkinsonism Relat Disord ; 84: 5-7, 2021 03.
Article em En | MEDLINE | ID: mdl-33515856

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Catatonia / Monoéster Fosfórico Hidrolases / Transtornos Parkinsonianos / Deficiência Intelectual / Proteínas do Tecido Nervoso Limite: Adult / Female / Humans Idioma: En Revista: Parkinsonism Relat Disord Ano de publicação: 2021 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Catatonia / Monoéster Fosfórico Hidrolases / Transtornos Parkinsonianos / Deficiência Intelectual / Proteínas do Tecido Nervoso Limite: Adult / Female / Humans Idioma: En Revista: Parkinsonism Relat Disord Ano de publicação: 2021 Tipo de documento: Article