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Neurotransmitter trafficking defect in a patient with clathrin (CLTC) variation presenting with intellectual disability and early-onset parkinsonism.
Manti, Filippo; Nardecchia, Francesca; Barresi, Sabina; Venditti, Martina; Pizzi, Simone; Hamdan, Fadi F; Blau, Nenad; Burlina, Alberto; Tartaglia, Marco; Leuzzi, Vincenzo.
Afiliação
  • Manti F; Department of Human Neuroscience - Unit of Child Neurology and Psychiatry, Sapienza University, Rome, Italy.
  • Nardecchia F; Department of Human Neuroscience - Unit of Child Neurology and Psychiatry, Sapienza University, Rome, Italy.
  • Barresi S; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome, Italy.
  • Venditti M; Department of Human Neuroscience - Unit of Child Neurology and Psychiatry, Sapienza University, Rome, Italy; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome, Italy.
  • Pizzi S; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome, Italy.
  • Hamdan FF; Molecular Diagnostic Laboratory and Division of Medical Genetics, Department of Pediatrics, CHU Sainte-Justine, Montreal, Canada.
  • Blau N; Dietmar-Hopp Metabolic Center and Centre for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
  • Burlina A; Division of Inherited Metabolic Diseases, Department of Paediatrics, University Hospital of Padova, Padova, Italy.
  • Tartaglia M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome, Italy.
  • Leuzzi V; Department of Human Neuroscience - Unit of Child Neurology and Psychiatry, Sapienza University, Rome, Italy. Electronic address: vincenzo.leuzzi@uniroma1.it.
Parkinsonism Relat Disord ; 61: 207-210, 2019 04.
Article em En | MEDLINE | ID: mdl-30337205
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Monoaminas Biogênicas / Transdução de Sinais / Transtornos Parkinsonianos / Cadeias Pesadas de Clatrina / Deficiência Intelectual Limite: Adult / Female / Humans Idioma: En Ano de publicação: 2019 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Monoaminas Biogênicas / Transdução de Sinais / Transtornos Parkinsonianos / Cadeias Pesadas de Clatrina / Deficiência Intelectual Limite: Adult / Female / Humans Idioma: En Ano de publicação: 2019 Tipo de documento: Article