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RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy.
Reyes, Aurelio; Melchionda, Laura; Nasca, Alessia; Carrara, Franco; Lamantea, Eleonora; Zanolini, Alice; Lamperti, Costanza; Fang, Mingyan; Zhang, Jianguo; Ronchi, Dario; Bonato, Sara; Fagiolari, Gigliola; Moggio, Maurizio; Ghezzi, Daniele; Zeviani, Massimo.
Afiliação
  • Reyes A; Mitochondrial Biology Unit, Medical Research Council, Cambridge CB2 0XY, UK.
  • Melchionda L; Unit of Molecular Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan 20126, Italy.
  • Nasca A; Unit of Molecular Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan 20126, Italy.
  • Carrara F; Unit of Molecular Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan 20126, Italy.
  • Lamantea E; Unit of Molecular Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan 20126, Italy.
  • Zanolini A; Unit of Molecular Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan 20126, Italy.
  • Lamperti C; Unit of Molecular Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan 20126, Italy.
  • Fang M; Beijing Genomic Institute, Shenzhen 518083, China.
  • Zhang J; Beijing Genomic Institute, Shenzhen 518083, China.
  • Ronchi D; Neurology Unit, Neuroscience Section, Department of Pathophysiology and Transplantation, Dino Ferrari Center, IRCCS Fondazione Ca' Granda Ospedale Maggiore Policlinico, University of Milan, Milan 20122, Italy.
  • Bonato S; Neurology Unit, Neuroscience Section, Department of Pathophysiology and Transplantation, Dino Ferrari Center, IRCCS Fondazione Ca' Granda Ospedale Maggiore Policlinico, University of Milan, Milan 20122, Italy.
  • Fagiolari G; Neuromuscular Unit, Neuroscience Section, Department of Pathophysiology and Transplantation, Dino Ferrari Center, IRCCS Fondazione Ca' Granda Ospedale Maggiore Policlinico, University of Milan, Milan 20122, Italy.
  • Moggio M; Neuromuscular Unit, Neuroscience Section, Department of Pathophysiology and Transplantation, Dino Ferrari Center, IRCCS Fondazione Ca' Granda Ospedale Maggiore Policlinico, University of Milan, Milan 20122, Italy.
  • Ghezzi D; Unit of Molecular Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan 20126, Italy. Electronic address: daniele.ghezzi@istituto-besta.it.
  • Zeviani M; Mitochondrial Biology Unit, Medical Research Council, Cambridge CB2 0XY, UK. Electronic address: mdz21@mrc-mbu.cam.ac.uk.
Am J Hum Genet ; 97(1): 186-93, 2015 Jul 02.
Article em En | MEDLINE | ID: mdl-26094573
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: DNA Mitocondrial / RNA / Oftalmoplegia Externa Progressiva Crônica / Encefalomiopatias Mitocondriais / Ribonuclease H / Replicação do DNA Limite: Adult / Female / Humans / Male / Middle aged Idioma: En Revista: Am J Hum Genet Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Reino Unido
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: DNA Mitocondrial / RNA / Oftalmoplegia Externa Progressiva Crônica / Encefalomiopatias Mitocondriais / Ribonuclease H / Replicação do DNA Limite: Adult / Female / Humans / Male / Middle aged Idioma: En Revista: Am J Hum Genet Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Reino Unido