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Novel NDUFA12 variants are associated with isolated complex I defect and variable clinical manifestation.
Torraco, Alessandra; Nasca, Alessia; Verrigni, Daniela; Pennisi, Alessandra; Zaki, Maha S; Olivieri, Giorgia; Assouline, Zahra; Martinelli, Diego; Maroofian, Reza; Rizza, Teresa; Di Nottia, Michela; Invernizzi, Federica; Lamantea, Eleonora; Longo, Daniela; Houlden, Henry; Prokisch, Holger; Rötig, Agnès; Dionisi-Vici, Carlo; Bertini, Enrico; Ghezzi, Daniele; Carrozzo, Rosalba; Diodato, Daria.
Afiliação
  • Torraco A; Department of Neurosciences, Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Nasca A; Diagnostic and Technology Department, Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Verrigni D; Department of Neurosciences, Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Pennisi A; UNITE INSERM U1163 Imagine Institute, Université Paris Descartes, Sorbonne Paris Cité, Paris, France.
  • Zaki MS; Human Genetics and Genome Research Division, Clinical Genetics Department, National Research Centre, Cairo, Egypt.
  • Olivieri G; Department of Pediatric Subspecialties, Division of Metabolism, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Assouline Z; UNITE INSERM U1163 Imagine Institute, Université Paris Descartes, Sorbonne Paris Cité, Paris, France.
  • Martinelli D; Department of Pediatric Subspecialties, Division of Metabolism, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Maroofian R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, London, UK.
  • Rizza T; 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.
  • Invernizzi F; Diagnostic and Technology Department, Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Lamantea E; Diagnostic and Technology Department, Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Longo D; Department of Diagnostic Imaging, Unit of Neuroradiology, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, London, UK.
  • Prokisch H; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany.
  • Rötig A; Institute of Human Genetics, Technische Universität München, Munich, Germany.
  • Dionisi-Vici C; UNITE INSERM U1163 Imagine Institute, Université Paris Descartes, Sorbonne Paris Cité, Paris, France.
  • Bertini E; Department of Pediatric Subspecialties, Division of Metabolism, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Ghezzi D; Department of Neurosciences, Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Carrozzo R; Diagnostic and Technology Department, Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Diodato D; Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.
Hum Mutat ; 42(6): 699-710, 2021 06.
Article em En | MEDLINE | ID: mdl-33715266
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Leigh / Doenças Mitocondriais / NADPH Desidrogenase Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Limite: Adolescent / Child / Child, preschool / Female / Humans / Male País/Região como assunto: Europa Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Itália
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Leigh / Doenças Mitocondriais / NADPH Desidrogenase Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Limite: Adolescent / Child / Child, preschool / Female / Humans / Male País/Região como assunto: Europa Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Itália