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Open Access
Peer-reviewed
Research Article
Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber’s hereditary optic neuropathy
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Leonardo Caporali ,
Contributed equally to this work with: Leonardo Caporali, Luisa Iommarini
Roles Conceptualization, Formal analysis, Investigation, Visualization, Writing – original draft, Writing – review & editing
Affiliation Neurology Unit, IRCCS Institute of Neurological Sciences of Bologna, Bologna, Italy
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Luisa Iommarini ,
Contributed equally to this work with: Leonardo Caporali, Luisa Iommarini
Roles Conceptualization, Formal analysis, Investigation, Visualization, Writing – original draft, Writing – review & editing
Affiliation Department of Pharmacy and Biotechnology (FABIT), University of Bologna, Bologna, Italy
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Chiara La Morgia,
Roles Formal analysis, Investigation, Writing – original draft
Affiliations Neurology Unit, IRCCS Institute of Neurological Sciences of Bologna, Bologna, Italy, Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Bologna, Italy
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Anna Olivieri,
Roles Funding acquisition, Investigation
Affiliation Department of Biology and Biotechnology "L. Spallanzani", University of Pavia, Pavia, Italy
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Alessandro Achilli,
Roles Funding acquisition, Supervision
Affiliation Department of Biology and Biotechnology "L. Spallanzani", University of Pavia, Pavia, Italy
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Alessandra Maresca,
Roles Investigation
Affiliation Neurology Unit, IRCCS Institute of Neurological Sciences of Bologna, Bologna, Italy
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Maria Lucia Valentino,
Roles Supervision
Affiliations Neurology Unit, IRCCS Institute of Neurological Sciences of Bologna, Bologna, Italy, Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Bologna, Italy
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Mariantonietta Capristo,
Roles Investigation
Affiliation Neurology Unit, IRCCS Institute of Neurological Sciences of Bologna, Bologna, Italy
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Francesca Tagliavini,
Roles Investigation
Affiliation Neurology Unit, IRCCS Institute of Neurological Sciences of Bologna, Bologna, Italy
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Valentina Del Dotto,
Roles Investigation
Affiliation Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Bologna, Italy
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Claudia Zanna,
Roles Investigation
Affiliation Department of Pharmacy and Biotechnology (FABIT), University of Bologna, Bologna, Italy
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Rocco Liguori,
Roles Funding acquisition, Writing – original draft
Affiliations Neurology Unit, IRCCS Institute of Neurological Sciences of Bologna, Bologna, Italy, Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Bologna, Italy
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Piero Barboni,
Roles Supervision, Writing – original draft
Affiliation Studio Oculistico D’Azeglio, Bologna, Italy
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Michele Carbonelli,
Roles Investigation
Affiliations Neurology Unit, IRCCS Institute of Neurological Sciences of Bologna, Bologna, Italy, Studio Oculistico D’Azeglio, Bologna, Italy
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Veronica Cocetta,
Roles Investigation
Affiliation Department of Pharmaceutical and Pharmacological Sciences, University of Padova, Padua, Italy
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Monica Montopoli,
Roles Supervision
Affiliation Department of Pharmaceutical and Pharmacological Sciences, University of Padova, Padua, Italy
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Andrea Martinuzzi,
Roles Funding acquisition, Supervision
Affiliation IRCCS "E. Medea" Scientific Institute Conegliano-Pieve di Soligo Research Center, Pieve di Soligo, Italy
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Giovanna Cenacchi,
Roles Investigation
Affiliation Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Bologna, Italy
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Giuseppe De Michele,
Roles Investigation
Affiliation Department of Neuroscience, Reproductive Sciences and Dentistry, University of Naples “Federico II”, Naples, Italy
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Francesco Testa,
Roles Investigation
Affiliation Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania “Luigi Vanvitelli”, Naples, Italy
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Anna Nesti,
Roles Investigation
Affiliation Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania “Luigi Vanvitelli”, Naples, Italy
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Francesca Simonelli,
Roles Supervision
Affiliation Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania “Luigi Vanvitelli”, Naples, Italy
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Anna Maria Porcelli,
Roles Supervision, Writing – original draft
Affiliations Department of Pharmacy and Biotechnology (FABIT), University of Bologna, Bologna, Italy, Health Sciences & Technologies (HST) CIRI, University of Bologna, Bologna, Italy
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Antonio Torroni,
Roles Conceptualization, Funding acquisition, Supervision, Writing – review & editing
Affiliation Department of Biology and Biotechnology "L. Spallanzani", University of Pavia, Pavia, Italy
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Valerio Carelli
Roles Conceptualization, Funding acquisition, Supervision, Writing – original draft, Writing – review & editing
* E-mail: valerio.carelli@unibo.it
Affiliations Neurology Unit, IRCCS Institute of Neurological Sciences of Bologna, Bologna, Italy, Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Bologna, Italy
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Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber’s hereditary optic neuropathy
- Leonardo Caporali,
- Luisa Iommarini,
- Chiara La Morgia,
- Anna Olivieri,
- Alessandro Achilli,
- Alessandra Maresca,
- Maria Lucia Valentino,
- Mariantonietta Capristo,
- Francesca Tagliavini,
- Valentina Del Dotto
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- Published: February 14, 2018
- https://doi.org/10.1371/journal.pgen.1007210