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Co-occurring WARS2 and CHRNA6 mutations in a child with a severe form of infantile parkinsonism.
Martinelli, Simone; Cordeddu, Viviana; Galosi, Serena; Lanzo, Ambra; Palma, Eleonora; Pannone, Luca; Ciolfi, Andrea; Di Nottia, Michela; Rizza, Teresa; Bocchinfuso, Gianfranco; Traversa, Alice; Caputo, Viviana; Farrotti, Andrea; Carducci, Claudia; Bernardini, Laura; Cogo, Susanna; Paglione, Maria; Venditti, Martina; Bentivoglio, Annarita; Ng, Joanne; Kurian, Manju A; Civiero, Laura; Greggio, Elisa; Stella, Lorenzo; Trettel, Flavia; Sciaccaluga, Miriam; Roseti, Cristina; Carrozzo, Rosalba; Fucile, Sergio; Limatola, Cristina; Di Schiavi, Elia; Tartaglia, Marco; Leuzzi, Vincenzo.
Afiliação
  • Martinelli S; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome, Italy.
  • Cordeddu V; National Center for Drug Research and Evaluation, Istituto Superiore di Sanità, Rome, Italy.
  • Galosi S; Department of Neuroscience, Sapienza University of Rome, Rome, Italy.
  • Lanzo A; Institute of Bioscience and BioResources, National Research Council, Naples, Italy.
  • Palma E; Department of Physiology and Pharmacology, Sapienza University of Rome, Rome, Italy; IRCCS San Raffaele Pisana, 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.
  • Ciolfi A; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.
  • Di Nottia M; Muscular and Neurodegenerative Disorders Unit, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.
  • Rizza T; Muscular and Neurodegenerative Disorders Unit, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.
  • Bocchinfuso G; Department of Chemical Science and Technologies, Tor Vergata University of Rome, Rome, Italy.
  • Traversa A; Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy.
  • Caputo V; Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy.
  • Farrotti A; Department of Chemical Science and Technologies, Tor Vergata University of Rome, Rome, Italy.
  • Carducci C; Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy.
  • Bernardini L; Cytogenetics Unit, IRCSS Casa Sollievo della Sofferenza Foundation, San Giovanni Rotondo, FG, Italy.
  • Cogo S; Department of Biology, University of Padua, Italy.
  • Paglione M; Institute of Bioscience and BioResources, National Research Council, Naples, Italy.
  • Venditti M; Department of Neuroscience, Sapienza University of Rome, Rome, Italy; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.
  • Bentivoglio A; Centro per i Disturbi del Movimento, Università Cattolica del Sacro Cuore, Rome, Italy.
  • Ng J; Molecular Neurosciences, Developmental Neurosciences, UCL Institute of Child Health, London, UK.
  • Kurian MA; Molecular Neurosciences, Developmental Neurosciences, UCL Institute of Child Health, London, UK.
  • Civiero L; Department of Biology, University of Padua, Italy.
  • Greggio E; Department of Biology, University of Padua, Italy.
  • Stella L; Department of Chemical Science and Technologies, Tor Vergata University of Rome, Rome, Italy.
  • Trettel F; Department of Physiology and Pharmacology, Sapienza University of Rome, Rome, Italy.
  • Sciaccaluga M; IRCCS Neuromed, Pozzilli, IS, Italy.
  • Roseti C; IRCCS San Raffaele Pisana, Rome, Italy.
  • Carrozzo R; Muscular and Neurodegenerative Disorders Unit, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.
  • Fucile S; Department of Physiology and Pharmacology, Sapienza University of Rome, Rome, Italy; IRCCS Neuromed, Pozzilli, IS, Italy.
  • Limatola C; Department of Physiology and Pharmacology, Sapienza University of Rome, Rome, Italy; IRCCS Neuromed, Pozzilli, IS, Italy.
  • Di Schiavi E; Institute of Bioscience and BioResources, National Research Council, Naples, Italy.
  • Tartaglia M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy. Electronic address: marco.tartaglia@opbg.net.
  • Leuzzi V; Department of Neuroscience, Sapienza University of Rome, Rome, Italy. Electronic address: vincenzo.leuzzi@uniroma1.it.
Parkinsonism Relat Disord ; 72: 75-79, 2020 03.
Article em En | MEDLINE | ID: mdl-32120303
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Triptofano-tRNA Ligase / Receptores Nicotínicos / Transtornos Parkinsonianos Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Triptofano-tRNA Ligase / Receptores Nicotínicos / Transtornos Parkinsonianos Idioma: En Ano de publicação: 2020 Tipo de documento: Article