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X-linked Parkinsonism with Intellectual Disability caused by novel mutations and somatic mosaicism in RAB39B gene.
Ciammola, Andrea; Carrera, Paola; Di Fonzo, Alessio; Sassone, Jenny; Villa, Roberta; Poletti, Barbara; Ferrari, Maurizio; Girotti, Floriano; Monfrini, Edoardo; Buongarzone, Gabriele; Silani, Vincenzo; Cinnante, Claudia Maria; Mignogna, Maria Lidia; D'Adamo, Patrizia; Bonati, Maria Teresa.
Afiliação
  • Ciammola A; IRCCS Istituto Auxologico Italiano, Department of Neurology and Laboratory of Neuroscience, Milan, Italy.
  • Carrera P; IRCCS San Raffaele Scientific Institute, Division of Genetics and Cell Biology, Unit of Genomics for Human Disease Diagnosis, Milan, Italy; IRCCS San Raffaele Scientific Institute Laboratory of Clinical Molecular Biology, Milan, Italy.
  • Di Fonzo A; IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy; Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Mila
  • Sassone J; San Raffaele Scientific Institute and Vita-Salute University, Milan, Italy.
  • Villa R; Clinic of Medical Genetics, IRCCS Istituto Auxologico Italiano, Milan, Italy.
  • Poletti B; IRCCS Istituto Auxologico Italiano, Department of Neurology and Laboratory of Neuroscience, Milan, Italy.
  • Ferrari M; IRCCS San Raffaele Scientific Institute Laboratory of Clinical Molecular Biology, Milan, Italy; Vita-Salute San Raffaele University, Chair of Clinical Pathology, Milan, Italy.
  • Girotti F; IRCCS Istituto Auxologico Italiano, Department of Neurology and Laboratory of Neuroscience, Milan, Italy.
  • Monfrini E; IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy; Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Mila
  • Buongarzone G; IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy; Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Mila
  • Silani V; IRCCS Istituto Auxologico Italiano, Department of Neurology and Laboratory of Neuroscience, Milan, Italy; Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.
  • Cinnante CM; Neuroradiology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
  • Mignogna ML; Molecular Genetics of Intellectual Disabilities Unit, Division of Neuroscience at IRCCS San Raffaele Scientific Institute, Milan, Italy.
  • D'Adamo P; Molecular Genetics of Intellectual Disabilities Unit, Division of Neuroscience at IRCCS San Raffaele Scientific Institute, Milan, Italy.
  • Bonati MT; Clinic of Medical Genetics, IRCCS Istituto Auxologico Italiano, Milan, Italy. Electronic address: mt.bonati@auxologico.it.
Parkinsonism Relat Disord ; 44: 142-146, 2017 Nov.
Article em En | MEDLINE | ID: mdl-28851564
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Parkinson / Doenças dos Gânglios da Base / Proteínas rab de Ligação ao GTP / Doenças Genéticas Ligadas ao Cromossomo X / Deficiência Intelectual Tipo de estudo: Prognostic_studies Limite: Aged / Humans / Male / Middle aged Idioma: En Revista: Parkinsonism Relat Disord Assunto da revista: NEUROLOGIA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Itália País de publicação: Reino Unido
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Parkinson / Doenças dos Gânglios da Base / Proteínas rab de Ligação ao GTP / Doenças Genéticas Ligadas ao Cromossomo X / Deficiência Intelectual Tipo de estudo: Prognostic_studies Limite: Aged / Humans / Male / Middle aged Idioma: En Revista: Parkinsonism Relat Disord Assunto da revista: NEUROLOGIA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Itália País de publicação: Reino Unido