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Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber's hereditary optic neuropathy.
Caporali, Leonardo; Iommarini, Luisa; La Morgia, Chiara; Olivieri, Anna; Achilli, Alessandro; Maresca, Alessandra; Valentino, Maria Lucia; Capristo, Mariantonietta; Tagliavini, Francesca; Del Dotto, Valentina; Zanna, Claudia; Liguori, Rocco; Barboni, Piero; Carbonelli, Michele; Cocetta, Veronica; Montopoli, Monica; Martinuzzi, Andrea; Cenacchi, Giovanna; De Michele, Giuseppe; Testa, Francesco; Nesti, Anna; Simonelli, Francesca; Porcelli, Anna Maria; Torroni, Antonio; Carelli, Valerio.
Afiliação
  • Caporali L; Neurology Unit, IRCCS Institute of Neurological Sciences of Bologna, Bologna, Italy.
  • Iommarini L; Department of Pharmacy and Biotechnology (FABIT), University of Bologna, Bologna, Italy.
  • La Morgia C; Neurology Unit, IRCCS Institute of Neurological Sciences of Bologna, Bologna, Italy.
  • Olivieri A; Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Bologna, Italy.
  • Achilli A; Department of Biology and Biotechnology "L. Spallanzani", University of Pavia, Pavia, Italy.
  • Maresca A; Department of Biology and Biotechnology "L. Spallanzani", University of Pavia, Pavia, Italy.
  • Valentino ML; Neurology Unit, IRCCS Institute of Neurological Sciences of Bologna, Bologna, Italy.
  • Capristo M; Neurology Unit, IRCCS Institute of Neurological Sciences of Bologna, Bologna, Italy.
  • Tagliavini F; Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Bologna, Italy.
  • Del Dotto V; Neurology Unit, IRCCS Institute of Neurological Sciences of Bologna, Bologna, Italy.
  • Zanna C; Neurology Unit, IRCCS Institute of Neurological Sciences of Bologna, Bologna, Italy.
  • Liguori R; Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Bologna, Italy.
  • Barboni P; Department of Pharmacy and Biotechnology (FABIT), University of Bologna, Bologna, Italy.
  • Carbonelli M; Neurology Unit, IRCCS Institute of Neurological Sciences of Bologna, Bologna, Italy.
  • Cocetta V; Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Bologna, Italy.
  • Montopoli M; Studio Oculistico D'Azeglio, Bologna, Italy.
  • Martinuzzi A; Neurology Unit, IRCCS Institute of Neurological Sciences of Bologna, Bologna, Italy.
  • Cenacchi G; Studio Oculistico D'Azeglio, Bologna, Italy.
  • De Michele G; Department of Pharmaceutical and Pharmacological Sciences, University of Padova, Padua, Italy.
  • Testa F; Department of Pharmaceutical and Pharmacological Sciences, University of Padova, Padua, Italy.
  • Nesti A; IRCCS "E. Medea" Scientific Institute Conegliano-Pieve di Soligo Research Center, Pieve di Soligo, Italy.
  • Simonelli F; Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Bologna, Italy.
  • Porcelli AM; Department of Neuroscience, Reproductive Sciences and Dentistry, University of Naples "Federico II", Naples, Italy.
  • Torroni A; Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania "Luigi Vanvitelli", Naples, Italy.
  • Carelli V; Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania "Luigi Vanvitelli", Naples, Italy.
PLoS Genet ; 14(2): e1007210, 2018 02.
Article em En | MEDLINE | ID: mdl-29444077
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: DNA Mitocondrial / Penetrância / Mutação de Sentido Incorreto / Herança Multifatorial / Atrofia Óptica Hereditária de Leber Idioma: En Ano de publicação: 2018 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: DNA Mitocondrial / Penetrância / Mutação de Sentido Incorreto / Herança Multifatorial / Atrofia Óptica Hereditária de Leber Idioma: En Ano de publicação: 2018 Tipo de documento: Article