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A homozygous MRPL24 mutation causes a complex movement disorder and affects the mitoribosome assembly.
Di Nottia, Michela; Marchese, Maria; Verrigni, Daniela; Mutti, Christian Daniel; Torraco, Alessandra; Oliva, Romina; Fernandez-Vizarra, Erika; Morani, Federica; Trani, Giulia; Rizza, Teresa; Ghezzi, Daniele; Ardissone, Anna; Nesti, Claudia; Vasco, Gessica; Zeviani, Massimo; Minczuk, Michal; Bertini, Enrico; Santorelli, Filippo Maria; Carrozzo, Rosalba.
Afiliación
  • Di Nottia M; Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Marchese M; Molecular Medicine & Neurogenetics, IRCCS Fondazione Stella Maris, Pisa, Italy.
  • Verrigni D; Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Mutti CD; MRC Mitochondrial Biology Unit, University of Cambridge, Cambridge, UK.
  • Torraco A; Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Oliva R; Department of Sciences and Technologies, University Parthenope of Naples, Naples, Italy.
  • Fernandez-Vizarra E; MRC Mitochondrial Biology Unit, University of Cambridge, Cambridge, UK.
  • Morani F; Molecular Medicine & Neurogenetics, IRCCS Fondazione Stella Maris, Pisa, Italy.
  • Trani G; Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Rizza T; Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Ghezzi D; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.
  • Ardissone A; Child Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Molecular and Translational Medicine DIMET, University of Milan-Bicocca, Milan, Italy.
  • Nesti C; Molecular Medicine & Neurogenetics, IRCCS Fondazione Stella Maris, Pisa, Italy.
  • Vasco G; Department of Neurosciences, IRCCS Bambino Gesù Children Hospital, Rome, Italy.
  • Zeviani M; MRC Mitochondrial Biology Unit, University of Cambridge, Cambridge, UK.
  • Minczuk M; MRC Mitochondrial Biology Unit, University of Cambridge, Cambridge, UK.
  • Bertini E; Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Santorelli FM; Molecular Medicine & Neurogenetics, IRCCS Fondazione Stella Maris, Pisa, Italy.
  • Carrozzo R; Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy. Electronic address: rosalba.carrozzo@opbg.net.
Neurobiol Dis ; 141: 104880, 2020 07.
Article en En | MEDLINE | ID: mdl-32344152
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Texto completo: 1 Colección: 01-internacional Asunto principal: Proteínas Ribosómicas / Proteínas Mitocondriales / Trastornos del Movimiento Tipo de estudio: Etiology_studies / Prognostic_studies Límite: Animals / Female / Humans / Infant / Male Idioma: En Revista: Neurobiol Dis Asunto de la revista: NEUROLOGIA Año: 2020 Tipo del documento: Article País de afiliación: Italia
Texto completo
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Texto completo: 1 Colección: 01-internacional Asunto principal: Proteínas Ribosómicas / Proteínas Mitocondriales / Trastornos del Movimiento Tipo de estudio: Etiology_studies / Prognostic_studies Límite: Animals / Female / Humans / Infant / Male Idioma: En Revista: Neurobiol Dis Asunto de la revista: NEUROLOGIA Año: 2020 Tipo del documento: Article País de afiliación: Italia