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Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathy.
Verrigni, Daniela; Di Nottia, Michela; Ardissone, Anna; Baruffini, Enrico; Nasca, Alessia; Legati, Andrea; Bellacchio, Emanuele; Fagiolari, Gigliola; Martinelli, Diego; Fusco, Lucia; Battaglia, Domenica; Trani, Giulia; Versienti, Gianmarco; Marchet, Silvia; Torraco, Alessandra; Rizza, Teresa; Verardo, Margherita; D'Amico, Adele; Diodato, Daria; Moroni, Isabella; Lamperti, Costanza; Petrini, Stefania; Moggio, Maurizio; Goffrini, Paola; Ghezzi, Daniele; Carrozzo, Rosalba; Bertini, Enrico.
Afiliação
  • Verrigni D; Department of Neurosciences, Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Di Nottia M; Department of Neurosciences, Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Ardissone A; Department of Clinical Neurosciences, Child Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Baruffini E; Department of Molecular and Translational Medicine DIMET, University of Milan-Bicocca, Milan, Italy.
  • Nasca A; Department of Chemistry, Life Sciences and Environmental Sustainability, University of Parma, Parma, Italy.
  • Legati A; Department of Molecular Neurogenetics, Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Bellacchio E; Department of Molecular Neurogenetics, Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Fagiolari G; Genetics and Rare Diseases, Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Martinelli D; Dino Ferrari Centre, Unit of Neuromuscular and Rare Disorders, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Università of Milano, Milan, Italy.
  • Fusco L; Division of Metabolism, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Battaglia D; Neurophysiology Unit, Department of Neuroscience, Bambino Gesu' Children's Hospital, Rome, Italy.
  • Trani G; Department of Child Neurology and Psychiatry, Catholic University, Rome, Italy.
  • Versienti G; Department of Neurosciences, Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Marchet S; Department of Molecular Neurogenetics, Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Torraco A; Department of Molecular Neurogenetics, Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Rizza T; Department of Neurosciences, Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Verardo M; Department of Neurosciences, Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • D'Amico A; Department of Neurosciences, Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Diodato D; Department of Neurosciences, Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Moroni I; Department of Neurosciences, Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Lamperti C; Department of Clinical Neurosciences, Child Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Petrini S; Department of Molecular Neurogenetics, Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Moggio M; Scientific Direction, Research Laboratories, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Goffrini P; Dino Ferrari Centre, Unit of Neuromuscular and Rare Disorders, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Università of Milano, Milan, Italy.
  • Ghezzi D; Department of Chemistry, Life Sciences and Environmental Sustainability, University of Parma, Parma, Italy.
  • Carrozzo R; Department of Molecular Neurogenetics, Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Bertini E; Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.
Hum Mutat ; 40(5): 601-618, 2019 05.
Article em En | MEDLINE | ID: mdl-30801875
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Encefalomiopatias Mitocondriais / Predisposição Genética para Doença / Dinaminas / Estudos de Associação Genética / Músculos Tipo de estudo: Prognostic_studies Limite: 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: Encefalomiopatias Mitocondriais / Predisposição Genética para Doença / Dinaminas / Estudos de Associação Genética / Músculos Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2019 Tipo de documento: Article